NP1633.RAAY8dEX32wz0ehCbo524HSAmxb8gZtaSIz3OY56G4q9I
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [N-actyltransferase2 polymorphism in recurrence of colorectal polyps and adenomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11702663
was generated by: ECO_0000203

GAD
imported on: 2017-02-21

DisGeNET evidence - LITERATURE
type: ECO_0000212
comment: Gene-disease associations inferred from text-mining the literature.

disgenetv3.0rdf
version: v5.0.0

NP1634.RAFgSdkRBjdSr2E8-T9OV2OZzVo8guAnN -5nEm2x0XuQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [patients with the NAT2 fast acetylator genotype were more prone to colorectal cancer and reflected the possibility that exposure to heterocyclic amines may contribute to colorectal cancer development in Taiwan, especially in Taiwanese females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17525862
was generated by: ECO_0000203

LHGDN
imported on: 2009-03-31

NP1635.RAqXCJDlIE-EmeJYBC25ewEhTrNOEp ffPuqHOL58OzV0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Risk of colorectal cancer decreased with the NAT2 slow phenotype, and the use of white meat or its drippings.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15671210
was generated by: ECO_0000203

NP1636.RADoNKVbBi5QukI4E9pA-FqZSBZWm8HyXXZRAix0PSWt8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Arylamine N-acetyltransferase type 2 and glutathione S-transferases M1 and T1 polymorphisms in familial adenomatous polyposis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11773864
was generated by: ECO_0000203

NP1637.RAd0bRJF1l7n6vt6JPiFlVlciAyygM NvgGsSGyeD33-8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [N-acetyltransferase 2 gene polymorphism in patients with colorectal carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15617035
was generated by: ECO_0000203

NP1638.RAADdslWy9NPibRLOTP7aT05vC-ZR13rxQcodT7joXYTs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT1 and NAT2 genotypes may contribute jointly to individual susceptibility and that heterocyclic aromatic amines may play an important role in colorectal cancer associated with red meat and possibly also exposure to environmental tobacco smoke]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16434594
was generated by: ECO_0000203

NP1639.RAZ4SAhcr1Cvz-1863eU4xwq-zI3SSGlM-1C95KYHm91Y
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The combination of NAT2 rapid plus other genotypes is associated with susceptibility to colorectal cancer in Japanese never-smokers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18159984
was generated by: ECO_0000203

NP1640.RAT62zN0G3g83HAvtJt4nJJZaezxwomCC2VahbH1uk6XI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We report the novel associations between P450 genotype and CRA risk, and highlight the risk association with GSTM1 genotype, common to our CRA and cancer case-control series. In addition, we report a novel modifying influence of GSTP1 genotype on dietary]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20375710
was generated by: ECO_0000203

NP1641.RAwdZIcOwSb8J-EtCfvi9njdL1UbH3rGaotLTG4VisFS8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Risks for colorectal cancer are significantly associated with the genetic polymorphisms of GSTT1 deletion, NAT2-rapid acetylator phenotype and genotye and NAT2-rapid acetylator phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15637738
was generated by: ECO_0000203

NP1642.RA2q7q7nEAOPGc2roQkAHUkdSnV4yWG1p-I9U4EBGjhXA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Polymorphisms in both N-acetyltransferase genes, NAT1 and NAT2, have been associated with an increased risk of colorectal tumors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8895478
was generated by: ECO_0000203

BEFREE
imported on: 2017-02-19

NP1643.RAyk8 WOLUsyVYAWHLpSfNcz FJIR1NgNQ7-VH-mehWj8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [There is a possible relationship between the NAT2 polymorphisms and colorectal cancer in Hebei Han Chinese.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16015704
was generated by: ECO_0000203

NP1644.RA1lj5YZ5dX04c2-C5CawryAB6YOxAXVgGSNkJdzXsj6E
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These data do not support the hypothesis that the NAT2 acetylatorship acts as a modifying factor on the age of onset in sporadic and familial, microsatellite stable colorectal cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16896994
was generated by: ECO_0000203

NP1645.RAi6uAQ8LSWU44i4GfUyM3PvqRiXHvJperAQFUryT42Ac
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our findings, which require independent confirmation, suggest that the NAT2 genotype constitutes a secondary risk factor to develop sigmoid colon cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11099063
was generated by: ECO_0000203

NP1646.RAfKTyVDZkQOAXueUUQ2qbFSMoRH6gfVauIABdb xNBIU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Only NAT2*14A fast type was associated with increased risk in patients with colorectal carcinoma (OR = 3.03; 95% CI, 1.56-5.86), when a high protein diet was considered, NAT2*7A/B fast genotype was also found to be associated with an increased risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15617035
was generated by: ECO_0000203

NP1647.RAH9h6MdwG7wzJ8hRDIYBVMzfjLYBPCsjfrvAMiTsKwG0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [This study did not demonstrate an association between NAT2 polymorphisms and inflammatory bowel diseases or sporadic colorectal cancer]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17537267
was generated by: ECO_0000203

NP1648.RAYreHNPfBSbBk3JDsKU6NXJMw7R-31003Ft8FPFSIq0U
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our interest is in the polymorphisms within the NAT1 and NAT2 genes that influence the tobacco-colorectal tumor relationship by impacting on the metabolic activation and detoxification of tobacco smoke-derived carcinogens.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16981843
was generated by: ECO_0000203

NP1649.RA-Ykd0TZ66w5x7Oqc0FbnXV-JnuPdflgGnoH6kCxgsfY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Gene-smoking interaction on colorectal adenoma and cancer risk: review and meta-analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19589345
was generated by: ECO_0000203

NP1650.RAx88os55X0OzsR5t0VTjXIDBN8lmAaPAO4SMZURE5ZwQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Differences at the genetic level revealed distinct disease functions and operational pathways in African Americans and Caucasians in spontaneous preterm birth.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19527514
was generated by: ECO_0000203

NP1651.RAnx6gJWpusiBMfq9mZeDV7xECzmRfOBscLSK5uyt4hkk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A pilot study investigating the role of NAT1 and NAT2 polymorphisms in gastric adenocarcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10918189
was generated by: ECO_0000203

NP1652.RA8KZVC9v yF8jEztLcK33USaEnjEMCinzCjbpsoxUEKw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Review article]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11981277
was generated by: ECO_0000203

NP1653.RAQ7seNiI7vbr pasZaIRWPKI4RwocT4f12rbXamKbmBI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic polymorphism of N-acetyltransferase-2, glutathione S-transferase-M1, and cytochromes P450IIE1 and P450IID6 in the susceptibility to head and neck cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9659241
was generated by: ECO_0000203

NP1654.RAhIvio j2VGKBMkChymMKZ9vlCjzZymKHOddfq1c rH8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In conclusion, NAT2 polymorphism might be a low-penetrant risk factor for HNC among Asians.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24338712
was generated by: ECO_0000203

NP1655.RAzaS0ulVbLHUOx7w51c2ZrxrTvIqgetmCf6wMqQaRPkw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [CYP1A1, CYP2E1, GSTM1, GSTT1, EPHX1 exons 3 and 4, and NAT2 polymorphisms, smoking, consumption of alcohol and fruit and vegetables and risk of head and neck cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17611777
was generated by: ECO_0000203

NP1656.RAK-mOqX 5kl5QD0-kBNTQfBpx9KljOu4D5jO0snlDJAQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our results suggest that NAT1 and NAT2 gene combinations may influence the risk of developing head and neck cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19898993
was generated by: ECO_0000203

NP1657.RAPW5nEqhcpR5WAClHz4ig1Vv1E2aCi0Ctn-1hBoDQCYg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [CYP1A1, CYP2E1, GSTM1, GSTT1, EPHX1 exons 3 and 4, and NAT2 polymorphisms, smoking, consumption of alcohol and fruit and vegetables and risk of head and neck cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17611777
was generated by: ECO_0000203

NP1658.RAypgKwLZ myyQhMJfAlFJ0x6mdkjHn50oEUtDaxz Mt4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 rs1565684 T>C SNP might play a slight role in ESCC etiology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24586291
was generated by: ECO_0000203

NP1659.RA8nLeohc-53ylLRCGXoH62TrDHCSM8baQjyvgremke4Q
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Association between genetic polymorphisms of glutathione S-transferase P1 and N-acetyltransferase 2 and susceptibility to squamous-cell carcinoma of the esophagus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9761122
was generated by: ECO_0000203

NP1660.RA19u2gkgtzeihR0Zx3MVw9YQ328d0Doy3taX7upEhBkM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic polymorphisms of p53 and GSTP1,but not NAT2,are associated with susceptibility to squamous-cell carcinoma of the esophagus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11008209
was generated by: ECO_0000203

NP1661.RAeiYXAk4f4CYHU VQ--y 5VfRmezDpa7tY5xyo rfc0c
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Collectively, these results indicated that phenotypic differences in NAT2 alone or in combination with CYP1A2 might help explain the higher incidence rates of transitional cell bladder cancer in whites.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18703023
was generated by: ECO_0000203

NP1662.RAZsTqUVI8PJwR5Xs6PGtBS2Nyn2LIyqX4vhzGUXhEHv0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To minimize exposure to this toxic metabolite, this first-in-human study was conducted in patients with advanced refractory solid tumors or lymphomas demonstrated to have a slow NAT2 acetylator genotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23912694
was generated by: ECO_0000203

NP1663.RAsydaqGyiB2wEhsRAhRXxeSI 1vZmq5uUzVjGLp3 pkA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our results suggest that functional polymorphisms in NAT2 and GSTP1 are associated with OOSCC survival.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23523331
was generated by: ECO_0000203

NP1664.RAEWagy6mOvROjgmPL4SjMa5yO68CCt9JEO0vyLT1iaKU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic polymorphism of N-acetyltransferase 2 in the susceptibility to laryngeal squamous cell carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16155914
was generated by: ECO_0000203

NP1665.RAM2IEKrDIy7qSVHgCEderHQm 8GgRhNejJiwUBhAMmaA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The results reported in this study suggest that NAT2 polymorphism is a genetic susceptibility factor involved in the carcinogenesis of cervical cancer, and also that the analysis of the allelic profile of populations in different geographic locations may help to understand the incidence of cervical cancer worldwide.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12474054
was generated by: ECO_0000203

NP1666.RAVaVSj-LW1f8lrB8FsogCy94Gf2dU2M10GKlIeIjnug0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These results suggest that NAT2*5A gene polymorphisms in patients may be associated with genetic susceptibility to cervical cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19823052
was generated by: ECO_0000203

NP1667.RAafE poabcCFDFiPlaiP2vUErOo5VNXVNbxcu s4Jm-o
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The results reported in this study suggest that NAT2 polymorphism is a genetic susceptibility factor involved in the carcinogenesis of cervical cancer, and also that the analysis of the allelic profile of populations in different geographic locations may help to understand the incidence of cervical cancer worldwide.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12474054
was generated by: ECO_0000203

NP1668.RA4TF28uHAkv2auAqw8hU3a0B7lpokNFIMpRaO03XmKVs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Maternal smoking and oral clefts: the role of detoxification pathway genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18449058
was generated by: ECO_0000203

NP1669.RAgZ0Lq5RKJhNnCLEQ4aTudA3y4PxcOTh4zyiIdKNnREM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Crohn's disease in Japanese is associated with a SNP-haplotype of N-acetyltransferase 2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16097053
was generated by: ECO_0000203

NP1670.RAiRtPX5dQg7d0cPQ4hbjkOmWEJf A 3N4pSuz69P5O80
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To investigate the frequency and distribution of N-acetyltransferase 2 (NAT2) and uridine 5'-diphosphate (UDP)-glucuronosyltransferase 1A7 (UGT1A7) genes in patients with ulcerative colitis (UC) and Crohn's disease (CD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16097053
was generated by: ECO_0000203

NP1671.RA6KCqA3KU-pwlWxwktVkvGjH-rvarkKUWLVuwU09b9s0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 gene is one of the determinants for Crohn disease in Japanese patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16097053
was generated by: ECO_0000203

NP1672.RAoLRh24dfPeDyTJrc1cPF3pJHIJkPNjECeelJqmQl7FE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [However, apparent interactions were found for intake of meat and HCAs with AhR, NAT1, and NAT2 genotypes, and the interactions were statistically significant for the group with both adenomatous and hyperplastic polyps.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18268115
was generated by: ECO_0000203

NP1673.RAuHtxFHw0jFzFls1IX988gPE9qn8HozXXZ16R3qmog6c
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Colorectal adenomatous and hyperplastic polyps: smoking and N-acetyltransferase 2 polymorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9950242
was generated by: ECO_0000203

NP1674.RAPcOVFoAYL-Ic7ZPJxOSInjFLTdcDKkxw4VWl41nEczU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We found evidence for interaction between NAT acetylator status and SULT1A1 genotype in risk of hyperplastic polyps: individuals with SULT1A1 638AA genotype and NAT1 and NAT2 intermediate/fast phenotypes had 3.5-fold increased risk (95% CI 1.2-10.3) compared with individuals with SULT1A1 638GG genotype and NAT1 and NAT2 slow phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16926176
was generated by: ECO_0000203

NP1675.RAgK3w6I64vRhKzcR8xWR05CfmYVwC-b8stlF-XDTwDnk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [N-acetyltransferase 2 gene polymorphism and presbycusis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16369173
was generated by: ECO_0000203

NP1676.RALhdZjCsPNFUt5AbwrCeG-8C5pn8rYnj- xMS-Rsxlv4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Antioxidant enzymes, presbycusis, and ethnic variability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20647132
was generated by: ECO_0000203

NP1677.RA qPt9xkVyM27UmbzvdPnDfdfPKVxqea743Kl MNbZx4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We conducted a case-control study, including 209 incident cases with hepatocellular carcinoma (HCC) and two different control groups [275 hospital controls and 381 patients with chronic liver disease (CLD) without HCC], to investigate whether CYP1A1, CYP1A2, CYP2A6, CYP2E1, GSTM1 and NAT2 polymorphisms are related to the risk of HCC with any interaction with cigarette smoking.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19643819
was generated by: ECO_0000203

NP1678.RAa51sdAxY0WQmgQKApACem2abpny7zLQRyaPjpl7RREI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [N-Acetyltransferase 2 gene polymorphism in a group of senile dementia patients in Shanghai suburb.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15339384
was generated by: ECO_0000203

NP1679.RAKpPCHbRNz1Aos5l9CFWKvU9wCu-E45vFmRJBB7mx93M
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Variant genotypes of NAT2 might serve as a hereditary risk factor for AD and VD in Chinese population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15339384
was generated by: ECO_0000203

NP1680.RAsOiJBQWSA 3YJyLK1ikJhKO1nmi0LlTJ r5nPoLdA30
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The smokers with slow acetylation genotype of N-acetyltransferase 2 may be the population with high risk for hepatocellular carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12546735
was generated by: ECO_0000203

NP1681.RAxtXRygNuxA1lySSDlAk68W7jSg 4bO3IAg8MtL125Dw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These results suggest that NAT2 polymorphisms do not exert a strong effect on individual susceptibility to MM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18838334
was generated by: ECO_0000203

NP1682.RA4HBfJnEBpWUDUrRf3GTD4lVuqmDO3RtdW66tc9ENmP8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Combination of NAT2 fast acetylator and GSTM1 null genotype posed a significantly increased risk of MM in the Italian, but not in the Finnish study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16697254
was generated by: ECO_0000203

NP1683.RAcdHoaC365tgP4DhkNaova37eIw8xcjSshDUKw8Nv8Es
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Individuals who lacked the GSTM1 gene and possessed a NAT2 slow-acetylator genotype had a risk of developing malignant and nonmalignant pulmonary disorders that was approximately fivefold greater than that observed for those who had the GSTM1 gene and a NAT2 fast-acetylator genotype (OR = 5.1; 95% CI = 1.6-17.6); these individuals had a fourfold increased risk of developing nonmalignant pulmonary disorders (OR = 4.1; 95% CI = 1.1-17.2) and an eightfold increased risk of developing malignant mesothelioma (OR = 7.8; 95% CI = 1.4-78.7) when compared with the same reference group.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8961976
was generated by: ECO_0000203

NP1684.RA5Sfi2ZWgKQCJIrhFsFC5zNmgP5FXbNey7bCTTzqEDx4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Combination of NAT2 fast acetylator and GSTM1 null genotype posed a significantly increased risk of MM in the Italian, but not in the Finnish study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16697254
was generated by: ECO_0000203

NP1685.RASXfMFrXNBN6CcSOcsf77Ox8LNlA8YFDaAhD9IFNtr08
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Combination of NAT2 fast acetylator and GSTM1 null genotype posed a significantly increased risk of MM in the Italian, but not in the Finnish study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/16697254
was generated by: ECO_0000218

CTD human
imported on: 2017-01-25

DisGeNET evidence - CURATED
type: ECO_0000205
comment: Gene-disease associations manually curated.

NP1686.RAAV-rnPsr-OqY8dnNFYa wmNxl7jYc9AjjqMY3AiexB4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Inherited GSTM1 and NAT2 defects as concurrent risk modifiers in asbestos-related human malignant mesothelioma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/7606714
was generated by: ECO_0000203

NP1687.RAHZpf1Rqo6hYyBiIbhhfEjBDCUhNVOcfbwITFJho-yZc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Polymorphism of NAT2 is associated with the risk of atopic dermatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16224574
was generated by: ECO_0000203

NP1688.RASv5d4Jzb58qRFtCBMC AFzQbG4Q578d-fQbbWTidr8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 polymorphism does not differ between patients suffering from atopic dermatitis and healthy subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/14528063
was generated by: ECO_0000203

NP1689.RAJP76i4ubWxXrShA65ET9fcJc0g70oUj9hmj1yYqezr4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Polymorphism of arylamine-N-acetyltransferase 2 gene is associated with the risk of atopic dermatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16224574
was generated by: ECO_0000203

NP1690.RAHig1f 3gZ8OprAaBDrMSqiEotFbhVaVqIib6K6NT1bM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To test the hypothesis that genetic variations in carcinogen metabolism modify the risk of pancreatic cancer (PC), we investigated the effect of single-nucleotide polymorphisms (SNPs) of the CYP1A2, NAT1, NAT2 and SULT1A1 gene on modification of the risk of PC in a hospital-based study of 755 patients with pancreatic adenocarcinoma and 636 healthy frequency-matched controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18499698
was generated by: ECO_0000203

NP1691.RASPSkbSpOcfpdZMatH0-eiht39X CCs7any4y6HwHuY0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [No significant correlation was found between the level of 8-OH-dG and the MnSOD, GSTM1, and hOGG1 polymorphisms. However, one novel polymorphism/mutation of the hOGG1 gene was found in a pancreatic tumor. Mutation at codon 12 of the K-ras gene was found i]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11719088
was generated by: ECO_0000203

NP1692.RAIksmKIqWnjZYaomyZN75APgFJUt4By-Tof MfI6gfns
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The NAT2*6A/any slow acetylation genotype may be a predisposing factor for pancreatic cancer among diabetics with smoking exposure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18006927
was generated by: ECO_0000203

NP1693.RA hTdwEsxtJEac7rbZnhFnNp JMau9AzY gMFxks8MDU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The presentations focused on the pharmacogenetics of the NAT1 and NAT2 arylamine N-acetyltransferases, including developmental regulation, structure-function relationships, and their possible role in susceptibility to breast, colon, and pancreatic cancers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11095579
was generated by: ECO_0000203

NP1694.RApyXY0 OyBWlCEKFqbjBpNe3e9zaJSerPGqobfLT9jE4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Polymorphisms of cytochrome P4501A2 and N-acetyltransferase genes, smoking, and risk of pancreatic cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15987714
was generated by: ECO_0000203

NP1695.RAJ5jti-yYessTYwgLyZyncDUoqdAy7lfzp8hK8FVJhHI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 slow genotype were associated with increased risk of pancreatic cancer among heavy smokers and among individuals with a history of diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18006927
was generated by: ECO_0000203

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has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We identified a robust association between NAT2 and SF in people with and without diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24934506
was generated by: ECO_0000203

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has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 slow genotype were associated with increased risk of pancreatic cancer among heavy smokers and among individuals with a history of diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18006927
was generated by: ECO_0000203

NP1698.RAnPtcBKNZgEj0ej17cM--9SGL9u8zBqfiTM OaDYDXCY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [However, the NAT2*7A/B gene polymorphism carried no increased risk for developing DM disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16397907
was generated by: ECO_0000203

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has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Gene-environment interactions in renal cell carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11323315
was generated by: ECO_0000203

NP1700.RAQvKEzyCR4dEgdwAG2t2xEi-5xIP75vN84bnlGFaSatg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2*6A slow acetylator was found to be a significant risk factor for diabetes mellitus (OR = 6.09; 95%CI: 1.99-18.6, p = 0.02)/slow acetylator genotypes may be an important genetic determinant for DM in the Turkish population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16397907
was generated by: ECO_0000203

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has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We identified a robust association between NAT2 and SF in people with and without diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24934506
was generated by: ECO_0000203

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has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Polymorphic arylamine N-acetyltransferase (NAT2) genes in children with insulin-dependent diabetes mellitus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/7995004
was generated by: ECO_0000203

NP1703.RA7Q0kehqz4N-i-3ZNylmnGxOQxIcnt2OAfNV7PufMlgo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Polymorphic arylamine N-acetyltransferase (NAT2) genes in children with insulin-dependent diabetes mellitus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/7995004
was generated by: ECO_0000203

NP1704.RA39YY9Tden-FD-1g-4uYyHhCzxkmbLTcXr1FbMoNQYcI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Polymorphic liver arylamine N-acetyltransferase (NAT2; EC 2.3.1.5) has been suggested as a susceptibility factor for both insulin-dependent diabetes mellitus (IDDM) and non-insulin-dependent diabetes mellitus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/7995004
was generated by: ECO_0000203

NP1705.RAdMyvWeVAQ1K27mREHvMzAj0vfPMG1nmykeLLDNhq5HY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [All the proteins we studied represent the primary hepatic or extrahepatic enzymes, and their polymorphic expression may be implicated in disease risk and the disposition of drugs or endogenous substances. As such, dose requirements of certain drugs may no]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15931768
was generated by: ECO_0000203

NP1706.RAwVraQI4OmwtA0AtPnHyONAUmmgm5oWbjp8gdkfF2jPA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Mutations at the genes CYP2D6 and NAT2 were analysed by allele-specific polymerase chain reaction and restriction mapping in DNA from 94 subjects with prostate cancer and 160 male healthy control subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9823980
was generated by: ECO_0000203

NP1707.RA1EMWp91px39JlTtmVyFB735iyTxkK4oFd6w0lOPZ6Tc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The present study demonstrates the association of PCA and MnSOD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19368118
was generated by: ECO_0000203

NP1708.RAkvVp8iQRrAOIJ1QsnYmEVbSUkzOzoyJshdLDc3e0mhI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 and NER genetic variants and sporadic prostate cancer susceptibility in African Americans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18026184
was generated by: ECO_0000203

NP1709.RARTrxUGvX0e3QOWI7zYPUt4NF4h31TRjkI4dHE 5pgpo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Well-done meat consumption, NAT1 and NAT2 acetylator genotypes and prostate cancer risk: the multiethnic cohort study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20570911
was generated by: ECO_0000203

NP1710.RAnPcr3Uu1C2s9R84EDnFw2yAgavavYsvoGPBMQzYI-88
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [There was no association between PCa and either 2-amino-3,8-dimethylimidazo[4,5-f]quinoxaline (MeIQx), 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) intake, or NAT1 and NAT2 genotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15685255
was generated by: ECO_0000203

NP1711.RA6UOgYkeDZpt-yPx 1nJ-mPr5ZGt8yStADyIZ1u5NpEg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Xenobiotic metabolizing gene variants, dietary heterocyclic amine intake, and risk of prostate cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19223546
was generated by: ECO_0000203

NP1712.RAXwjdoV4Q18u9vyKMBBzW9wyK4DdFNQ58zjBu46WErcA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our results indicate a role of NAT2 polymorphisms in the carcinogenic pathway of prostate cancer, specifically in a population of Southern Europe.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15717312
was generated by: ECO_0000203

NP1713.RArRq6yGmhXwR9L7GfTiQVoyvBzUF3WoaCi5rV59pu79M
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These data demonstrate that the NAT2 slow acetylator genotype plays an important role in determining the risk of developing prostate cancer in Japanese men and is also associated with more clinically advanced and pathologically aggressive disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12622714
was generated by: ECO_0000203

NP1714.RAq2V-sC PfssjaI3q0AQTGU6hvhTgWUmLLlUvl2H1dmY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [N-acetyltransferase 2 polymorphisms, tobacco smoking, and breast cancer risk in the breast and prostate cancer cohort consortium.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22074863
was generated by: ECO_0000203

NP1715.RA L3LqUDVn0nK0sz8jLTPt90wVpeodr4Jog-XLfC2X6w
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Rapid NAT2 genotype correlated significantly with the development of double prostate-bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12552951
was generated by: ECO_0000203

NP1716.RAMjAlLTOvn5b3zl0xGniTeaNGVPVTux cyjW74ghponY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Epidemiological studies suggest that the NAT1 and NAT2 acetylation polymorphisms modify risk of developing urinary bladder, colorectal, breast, head and neck, lung, and possibly prostate cancers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10667461
was generated by: ECO_0000203

NP1717.RALoVKcMEI6CsteEf5NAzRimK3tDobtH83wLrrKkvw2X4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
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authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The data suggests that the NAT2 rapid acetylator genotypes may play an important role in determining the risk of developing prostate cancer particularly in the tobacco users of north Indian population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16083506
was generated by: ECO_0000203

NP1718.RArJHPnlGOts844G 4wEoTlalEE0-riu7MiAfcHZAffD4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Well-done meat consumption, NAT1 and NAT2 acetylator genotypes and prostate cancer risk: the multiethnic cohort study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20570911
was generated by: ECO_0000203

NP1719.RA2gnZdVmW7V3uztpOH0nVdT7sKLA96SSx6ZAeVHhVg9U
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 and NER genetic variants and sporadic prostate cancer susceptibility in African Americans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18026184
was generated by: ECO_0000203

NP1720.RAWLHX9gwj byPNX8dJalp7g mP-QFOTbK7O6sS1A0IE0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our results indicate a role of NAT2 polymorphisms in the carcinogenic pathway of prostate cancer, specifically in a population of Southern Europe.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15717312
was generated by: ECO_0000203

NP1721.RASfwHwzC1IPL0zILTcrAWAlvOvcOOjzlcYead9qHyiQI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The results of this small pilot study suggest increased susceptibility to prostate cancer for subjects with combinations of NAT1*10 and slow (particularly very slow) NAT2 acetylator genotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12355549
was generated by: ECO_0000203

NP1722.RAwYZDoMy7ldiQk3vcVrOQsho9X6anTLb6H4Xm0kroYZE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Association of prostate cancer with rapid N-acetyltransferase 1 (NAT1*10) in combination with slow N-acetyltransferase 2 acetylator genotypes in a pilot case-control study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12355549
was generated by: ECO_0000203

NP1723.RAKO5U4eQWgb 84zDiBU8bIVoSdHM94UeLW2aUifRWNiw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We examined the correlation between chronic alcoholic pancreatitis and variants of the phase II detoxification enzymes such as Glutathione S-transferase M1 (GSTM1), glutathione S-transferase theta 1 (GSTT1), NADPH-quinone oxidoreductase 1 (NQO1), and N-acetyl transferase (NAT2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18986377
was generated by: ECO_0000203

NP1724.RAuWKb53Ao1FqCApYvWejPuP y6AZ2iAwe0esp-FHpACI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our study was designed to elucidate whether the NAT2 gene polymorphism would be a marker for diabetic nephropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/7851073
was generated by: ECO_0000203

NP1725.RAIUh2J ULoKUsX5VZ mWpJGC0t9y-QX6ZjqH0w0k3U2I
has assertion: assertion
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has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Relationship between acetylation polymorphism and risk of atopic diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10340922
was generated by: ECO_0000203

NP1726.RAchnhYLvum9ic56l0 4k1bndrvJxloh4BjbaKgp38lFc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Associations among genetic susceptibility, DNA damage, and pregnancy outcomes of expectant mothers exposed to environmental tobacco smoke.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17610937
was generated by: ECO_0000203

NP1727.RAd7ejW1C mLgFk5k0795xkGYFllIuGJHkSa4xF7QgKEU
has assertion: assertion
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has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Chromosomal aberrations in railroad transit workers: effect of genetic polymorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19177501
was generated by: ECO_0000203

NP1728.RAmo-g75ZHSHD6QBhV5HR2bzhju6e2wM0pUyTIFPi0xqw
has assertion: assertion
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has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Synergistic effects of NAT2 slow and GSTM1 null genotypes on carcinogen DNA damage in the lung.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20501762
was generated by: ECO_0000203

NP1729.RAP5APIBdIjiZGdOTJcaHLFo10UAwzqwa43RJjNkXVX-Q
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To determine whether polymorphisms in the sulfonamide detoxification genes, CYB5A (encoding cytochrome b(5)), CYB5R3 (encoding cytochrome b(5) reductase), or NAT2 (encoding N-acetyltransferase 2) were over-represented in patients with delayed sulfonamide drug hypersensitivity, compared with control patients who tolerated a therapeutic course of trimethoprim-sulfamethoxazole without adverse event.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22850190
was generated by: ECO_0000203

NP1730.RAOVXqrGSUkY4n3MPQ48tHRz4VwVwEMjlCXejIau2bnqI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Slow acetylator phenotype and genotype in HIV-positive patients with sulphamethoxazole hypersensitivity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12580987
was generated by: ECO_0000203

NP1731.RAbRkJP9-3B7M53VbhE8aB5nIb6yL YOCs0IL6GAWZzd0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic and ethnic risk factors associated with drug hypersensitivity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/20485159
was generated by: ECO_0000218

NP1732.RAYjLgS9v0An74KRbJYe77RZtKpe0C8bUs1y4ZHxZYNH4
has assertion: assertion
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has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A genome-wide association study of metabolic traits in human urine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/21572414
was generated by: ECO_0000218

NP1733.RALhXVLoET3KP5an3EmSMGf4f7t5qRDS0YmDVVCXmCJ0o
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Association analysis of N-acetyl transferase-2 polymorphisms with aspirin intolerance among asthmatics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/20602614
was generated by: ECO_0000218

NP1734.RAGDjXqnC G2FEPOqBKgvc8bieG0GL00oCn3I-DPyL1qI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The analysis of NAT2 polymorphism does not seem to be useful in predicting the risk of PD with dementia or AD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18033638
was generated by: ECO_0000203

NP1735.RAyjLc7O8Z9EzgiJ9rBheH9 4HgsUZWjMyrze5iZh1zlQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The role of NAT2 gene polymorphism in aetiology of the most frequent neurodegenerative diseases with dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18033638
was generated by: ECO_0000203

NP1736.RAMLYMaUATpcTgE-nF4CUtTepuv 0LDxylsjLM vLCRdI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [N-Acetyltransferase 2 gene polymorphism in a group of senile dementia patients in Shanghai suburb.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15339384
was generated by: ECO_0000203

NP1737.RAL9RJ-9pme4Sp8jqRslfzgacozWoUo4x93sVp0TOvn9o
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type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
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authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Variations at these loci may contribute to an understanding of the way in which different genotypes may affect the activities of human N-acetyltransferases, especially as regards the therapeutic efficacy of certain drugs and antibiotics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11393533
was generated by: ECO_0000203

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has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The role of NAT2 gene polymorphism in aetiology of the most frequent neurodegenerative diseases with dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18033638
was generated by: ECO_0000203

NP1739.RA7aKP8eCfJxETQ9pV0PT1VcuiK5GlXppub9hgZg5mJE8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our results suggest that NAT2 activity may be particularly critical in smoking related hepatocarcinogenesis among chronic HBV carriers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11034589
was generated by: ECO_0000203

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has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Allele frequencies for glutathione S-transferase and N-acetyltransferase 2 differ in African population groups and may be associated with oesophageal cancer or tuberculosis incidence.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12747608
was generated by: ECO_0000203

NP1741.RAYj- aO3-STGbudxr3 -u40iUuZmoUjXPxxf9xKKtVmU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [N-acetyltransferase 2 polymorphisms and risk of esophageal cancer in a Chinese population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24586291
was generated by: ECO_0000203

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has assertion: assertion
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has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our results suggest that the ADH1C allele modifies the carcinogenic dose response for alcohol in the upper aerodigestive tract, giving rise to a gene-environment interaction. The role of genes as possible modifiers of life-style risks seems the most relia]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20437850
was generated by: ECO_0000203

NP1743.RAo2Cd3gt89MESuO4cB7Oufoa48YOydyFAqVlwpA4-qYY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The overall effects of these genetic polymorphisms were moderate in terms of relative risk, with ORs ranging from 2-10. There was also some evidence that genetic polymorphisms in certain carcinogen-metabolizing enzymes such as CYP2E1, CYP1A1, CYP2A6, GSTM]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12883749
was generated by: ECO_0000203

NP1744.RAfZ9YOH3sUuiGxXh5t9c6-RnMfWODWwH mhS5XeH9gx0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These results suggest that NAT2 acetylator genotypes did not influence the susceptibility to esophageal cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17661210
was generated by: ECO_0000203

NP1745.RA9T4QICtgLgiguX6Y-7JXJ6SNTJxaalXbqTGjr1X nr0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We hypothesized that NAT1 and NAT2 genetic polymorphisms may influence the risk of oesophageal cancer upon exposure to environmental carcinogens.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25886288
was generated by: ECO_0000203

NP1746.RAGaNore3bXU4zB 9YotR94yVxQkuoW-NK04fG9T82LOw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These variants could therefore be associated with high cancer susceptibility. In addition, the high proportion of NAT2 fast alleles may partially explain the high tuberculosis prevalence in South Africans, due to reduced isoniazid efficacy in the presen]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12747608
was generated by: ECO_0000203

NP1747.RAEmPBJHG4ZZ5naB-R9ZZVCFVyQus6cy0 ATZRUU2SWkE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These results suggest that N-acetylation polymorphism may be implicated as a genetic trait affecting an individual's susceptibility and biological behavior of esophageal squamous cell cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11774959
was generated by: ECO_0000203

NP1748.RAdrVHPM5NJTeeeP2IEQz8l-aBcY2Kz- 347B6VJNM uc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic polymorphism of N-acetyltransferase 2 in patients with esophageal cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11774959
was generated by: ECO_0000203

NP1749.RAzIfdIkjrTX4nJ93pXOayKYsc99vodRH0k ZjsiA7rP4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Role of the N-acetyltransferase 2 detoxification system in thyroid cancer susceptibility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19118072
was generated by: ECO_0000203

NP1750.RAHodi3JWZzBVTdp96qLggG4By4igO8z6jzYYOrbmTNVQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Kaplan-Meier analyses showed N-acteyltransferase-2 (NAT2) fast acetylators experienced a 19.7% higher 5-year survival rate than slow acetylators (P=0.03) and this association was similar in oropharyngeal and oral cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23523331
was generated by: ECO_0000203

NP1751.RAKbXLCGx9VJ64FV58FztY76R5qRAkHrli88Adz1a11N0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Possible association of NAT2 polymorphism with laryngeal cancer risk: an evidence-based meta-analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21877196
was generated by: ECO_0000203

NP1752.RA TqjozmSmibcU48VugKIjR84HEnZYDI25HpAB03U7Do
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These findings suggest that NAT2 genotype may be an important factor in tumorigenesis of CRC and cancers related to hereditary nonpolyposis CRC among individuals with mismatch repair defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11245417
was generated by: ECO_0000203

NP1753.RAHYRJMibFyupgo1rCuwM0f88Pt3eq0NAkaXbOk9dTIIE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [However, because almost all BZ-related metabolites measured in the urine of exposed workers were acetylated among slow, as well as rapid, acetylators (mean +/- SD 95 +/- 1.9% vs. 97 +/- 1.6%, respectively) and NAT2 activity did not affect the levels of any DNA adduct measured, it is unlikely that interindividual variation in NAT2 function is relevant for BZ-associated bladder carcinogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8643532
was generated by: ECO_0000203

NP1754.RAAVrOYwY3whBuxvquPHSWuFmJMMmOYTQd4cMPBzeTqYk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Acetylation catalyzed by NAT2 is an important process in metabolic activation of arylamines to electrophilic intermediates that initiate carcinogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21321790
was generated by: ECO_0000203

NP1755.RAIJLdf3zvYdzr-rQk8NnA0ghSKCt-3QDVqVnu8AYKJ38
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Molecular genetics and function of NAT1 and NAT2: role in aromatic amine metabolism and carcinogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12351146
was generated by: ECO_0000203

NP1756.RA95Dvk8Fz9yo0MVSg XvRZ1X17YgoMq355QOwHjU8Kc4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [As NAT2 activity is known to modify risk of arylamine-induced carcinogenesis, our results suggest that exposure to arylamines in the environment may play a role in risk of lung cancer among non-smokers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10469638
was generated by: ECO_0000203

NP1757.RATJrLqm7QhWycBmZH cr3vM25JE9i8 2Nwr3yvlzJ42c
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The influence of NAT2 genotype on this association supports a role for heterocyclic amines in mediating the effect of red meat on colorectal carcinogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15700302
was generated by: ECO_0000203

NP1758.RAVJ13UxzLjdHCeaE7f2-Ufz9O-bxCPidbN53LuVLc6qg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Since individuals with modified ability to metabolize these carcinogens could have a different risk for breast cancer, we investigated the role of cytochromes P-450 (CYP1A1, CYP2D6), glutathione-S-transferases (GSTM1, GSTT1, GSTP1) and N-acetyltransferases (NAT1, NAT2) gene variants in breast carcinogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11291049
was generated by: ECO_0000203

NP1759.RAspKlD5PNyDRD8Ky0 XJzZ1AeoETsB5tX22MVC9j7aa8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Joint effects of the N-acetyltransferase 1 and 2 (NAT1 and NAT2) genes and smoking on bladder carcinogenesis: a literature-based systematic HuGE review and evidence synthesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17675654
was generated by: ECO_0000203

NP1760.RAmZm 0BEvlXkXFXMpNZhsJ81otdnwGYm8OwkSzczwMNc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Large, multiethnic populations and analysis of combinations of genes for carcinogen metabolism may be needed to further assess the role of NAT2 in colorectal tumorigenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/7743494
was generated by: ECO_0000203

NP1761.RAb3uvECQzT-EurzYpWQwMSy19tgHnuPly24g7D55bH6o
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The results reported in this study suggest that NAT2 polymorphism is a genetic susceptibility factor involved in the carcinogenesis of cervical cancer, and also that the analysis of the allelic profile of populations in different geographic locations may help to understand the incidence of cervical cancer worldwide.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12474054
was generated by: ECO_0000203

NP1762.RAtddkdWh3BlUIk2QB0zGycbO6bsYl-vkrPYUm35UCLAo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To determine which of the N-acetyltransferase (NAT) alleles [monomorphic (NAT1) or polymorphic (NAT2)] are expressed in the target cells for arylamine carcinogenesis, namely normal human uroepithelial cells, cDNA was prepared from cellular RNA and amplified by polymerase chain reaction (PCR), using upstream primer 1 comprising the 5' end (nt 47-68) and either downstream primers 2 (nt 908-889) or 3 (nt 953-931) corresponding with the 3' end.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8001235
was generated by: ECO_0000203

NP1763.RAHXq7DsSASV9T16qaoCwpNMHnIxy99pmnLegTNZnSMsk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To investigate the role of NAT1 and NAT2 variants as risk-modifying factors in leukemogenesis, we conducted a case-control study on 176 ALL patients and 306 healthy controls of French-Canadian origin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10868688
was generated by: ECO_0000203

NP1764.RAyxhcHilaQvGjwDXceP YHnclimPTFId7ArkCFV88mJQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Mutations at the genes CYP2D6 and NAT2 were analysed by allele-specific polymerase chain reaction and restriction mapping in DNA from 94 subjects with prostate cancer and 160 male healthy control subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9823980
was generated by: ECO_0000203

NP1765.RAz4gxFW-4zusggJ-4ABvLRKM0JvjAwjvUb2zH5FlVwCQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Well-done meat consumption, NAT1 and NAT2 acetylator genotypes and prostate cancer risk: the multiethnic cohort study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20570911
was generated by: ECO_0000203

NP1766.RAz6cI3QnMungnoEdvFfrHp Cn70FCwH7plAUpSEeYvlY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [N-acetyltransferase 2 polymorphisms, tobacco smoking, and breast cancer risk in the breast and prostate cancer cohort consortium.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22074863
was generated by: ECO_0000203

NP1767.RAEdUv TrZ2rvR6y9ESVSrIjjOVPWrNSzOVXD9BMkXghs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [There was no association between PCa and either 2-amino-3,8-dimethylimidazo[4,5-f]quinoxaline (MeIQx), 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) intake, or NAT1 and NAT2 genotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15685255
was generated by: ECO_0000203

NP1768.RAiTeJ3gxsVaTz337-I1AVF0nM7jgNo 5f1l e4KjqkGE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 and NER genetic variants and sporadic prostate cancer susceptibility in African Americans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18026184
was generated by: ECO_0000203

NP1769.RA2YTej24-o bIPrWq3ZO4ouA j7Z0QMNsyusVy7v69fc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our results indicate a role of NAT2 polymorphisms in the carcinogenic pathway of prostate cancer, specifically in a population of Southern Europe.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15717312
was generated by: ECO_0000203

NP1770.RAemiClI n-LmQ0D6c4o3bXVyLjedSh493ZfY-amcIqEA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Association of prostate cancer with rapid N-acetyltransferase 1 (NAT1*10) in combination with slow N-acetyltransferase 2 acetylator genotypes in a pilot case-control study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12355549
was generated by: ECO_0000203

NP1771.RAa1vZ2DVVKIYQhj90yCZD1e-g0UrsIDrPm Wn0on8QWo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These data suggest that altered NAT 2 enzyme activity may be a predisposition factor in endometriosis, or that NAT 2 alleles may be in linkage disequilibrium with a susceptibility allele in the same chromosomal region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11675475
was generated by: ECO_0000203

NP1772.RAMtSBbhfZuMQKCy-c JN DzlaJKqVDyJPA4q0yd2fQSI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Although a relation of risk may be definitely discarded for systemic lupus erythematosus (SLE), inflammatory bowel disease and endometriosis, more research is needed for rheumatoid arthritis, Parkinson's, Alzheimer's, Beh�et's and periodontal diseases , as current results are inconclusive but suggest a possible relation with NAT2 polymorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18680473
was generated by: ECO_0000203

NP1773.RA6G-5b25lnG-rc5FpWPWLDr5-Qq-k3AiRHjmgva1Vj1Q
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These data suggest that altered NAT 2 enzyme activity may be a predisposition factor in endometriosis, or that NAT 2 alleles may be in linkage disequilibrium with a susceptibility allele in the same chromosomal region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11675475
was generated by: ECO_0000203

NP1774.RADI16EoxstPt5wLeyfirmnyYS1bWk2ITOO6Lm9beDLjU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [It is suggested that typing of the NAT2, GSTM1, and GSTT1 genes can be useful for the assessment of the predisposition to endometriosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12760253
was generated by: ECO_0000203

NP1775.RAt2Hj2znxj6 svQJQm2cQO24YFIuZzY1b8K2H2yTCIIU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A polymorphic homologue of human NAT2 was characterized in the rhesus macaque, to facilitate investigations of the postulated involvement of this isoenzyme in the toxicogenetics of endometriosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17460546
was generated by: ECO_0000203

NP1776.RAQj7MDTW7ZG6Boj FA495pEnWjjBpqfjdrK 7b4EJE34
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Possible involvement of arylamine N-acetyltransferase 2, glutathione S-transferases M1 and T1 genes in the development of endometriosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10381818
was generated by: ECO_0000203

NP1777.RAtlBEYL2f9V8FcSyXevnHEcMoBWB6uZfvIzZJPYsXS28
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The case-control data from this study suggest there is no association between endometriosis and NAT2 in South Indian women; however, two new variant genotypes and seven SNP combinations were also identified in cases only, which suggests that the gene may still have some as yet undetermined role in the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15588473
was generated by: ECO_0000203

NP1778.RAcj0a2Wzk-Dpo7SrO4bp0q6GlIP3 PS6uTHFfQkk1W-c
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Talc use, variants of the GSTM1, GSTT1, and NAT2 genes, and risk of epithelial ovarian cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18768514
was generated by: ECO_0000203

NP1779.RAb-HxXnB6e-l8lr1kF6cUkpU5BdI 7IAt4pYZEaPNl1Q
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Cases with invasive epithelial ovarian cancer (N?=?1571 including 956 of serous sub-type) and controls (N?=?2046) from three studies were genotyped at 11 SNPs in EPHX1, ADH4, ADH1A, NQO2, NAT2, GSTP1, CYP1A1, and NQO1, following an initial SNP screen in a subset of participants.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21480392
was generated by: ECO_0000203

NP1780.RA2gRl39SmxfEzcWsvOGyxbZD4oiJIbBCz02uCySkZC9c
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Implication of Xenobiotic Metabolizing Enzyme gene (CYP2E1, CYP2C19, CYP2D6, mEH and NAT2) polymorphisms in breast carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18423013
was generated by: ECO_0000203

NP1781.RAiuVuf0ufxvfJks5Nl FEdA-p6jIXUQ0ELBFcnTPH4ws
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [N-acetyltransferase 2 genotype modification of active cigarette smoking on breast cancer risk among hispanic and non-hispanic white women.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19692670
was generated by: ECO_0000203

NP1782.RA2mGBDFsjFjnzOoq7NYY-HzDftfB3Co3e0LQb-gJQobY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [This study examined the possible effect of cytochrome P450 (CYP1A1), glutathione S-transferase (GSTM1 and T1) and N-acetyltransferases 2 (NAT2) polymorphisms on DNA-protein crosslinks (DPC) formation in the white blood cells of breast cancer patients, and assessed the levels of DPC detected.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11934439
was generated by: ECO_0000203

NP1783.RApwxVcuS2QpbVwPraL2RV xj4w-RPLm UQkkDdvXCD8s
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Breast cancer and active and passive smoking: the role of the N-acetyltransferase 2 genotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10933269
was generated by: ECO_0000203

NP1784.RAmjlDCc-GfyH5cB462PbUKmCAVM3vuaKw4Peni3jOjRI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [N-acetyltransferase (NAT1, NAT2) and glutathione S-transferase (GSTM1, GSTT1) polymorphisms in breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12860276
was generated by: ECO_0000203

NP1785.RAh5Iczdj7VvIATKlsX-xrewCFOWy3wnDHYbKNWXDnvNA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Active cigarette smoking and the risk of breast cancer at the level of N-acetyltransferase 2 (NAT2) gene polymorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/26700672
was generated by: ECO_0000203

NP1786.RAGEh63EM7HaiGufXKxR7GjGjjuBAJ1LOzzgovBE5dQVw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These data suggest that CYP1A1*4, NAT1 and NAT2 variants are involved in the susceptibility to breast carcinoma by modifying the impact of exogenous and/or endogenous exposures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11291049
was generated by: ECO_0000203

NP1787.RAUGyvOoUeb 3UBsvl9C6KF0nEjfrN4TOB1xI4sGfeGfg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These findings do not support a role for HAAs from meat or NAT2 in the etiology of breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10753193
was generated by: ECO_0000203

NP1788.RAbdtxhtQf3ZxouGxZonNRo96bgEaVkZZT 4S7Kux8BJc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic polymorphisms of NAT1 and NAT2 may be also a breast-cancer susceptibility factor among postmenopausal women with a high intake of well-done meat.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17010218
was generated by: ECO_0000203

NP1789.RAoaoH0pFTFokmExhkPR70q6qgNM61SYrIdILqZpzSEhw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our results suggest that the CYP1B1 polymorphism may be an important modifier of breast cancer risk in Finnish Caucasian women who have been exposed to tobacco smoke and/or carry the NAT2 slow acetylator genotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17063266
was generated by: ECO_0000203

NP1790.RAVeiZMbBPaiIhawtzgfsRtfe lmtetKIsr0 nz8Ld iU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A stratified analysis by menopausal status indicated the association between the NAT2 SNP (rs1799930) and breast cancer was mainly evident in premenopausal women (OR 2.70, 95% CI 1.20-6.07), while the MTRR SNP (rs162049) was significant in postmenopausal women (OR 1.61, 95% CI 1.07-2.44).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20180013
was generated by: ECO_0000203

NP1791.RAm6zc4A-1-mAts2 -vIfLXXkOT9UQt78rpHEZ0LdFU-0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A meta-analysis of the association of N-acetyltransferase 2 gene (NAT2) variants with breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17535831
was generated by: ECO_0000203

NP1792.RAZanmCY2YVlaAMAxFEcq95nHADZF9 mXVhXNX6EvohUw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Breast cancer risk, meat consumption and N-acetyltransferase (NAT2) genetic polymorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9506525
was generated by: ECO_0000203

NP1793.RAsIB5Wv8HFtua8bmz74eTb-kVoDSZRAVA hvwLpjtcBY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Smoking (active and passive), N-acetyltransferase 2, and risk of breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20197243
was generated by: ECO_0000203

NP1794.RAhJCF87ohNnndnqV6fs8uDuwYn09pN129YshvI5Tn3u8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Neither N-acetyltransferase 1 (NAT1) nor N-acetyltransferase 2 (NAT2) genotype alone was associated with increased breast cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9610785
was generated by: ECO_0000203

NP1795.RAdYSBS6UqH S7mEbLrL1tfxrhEa9N877XbGwYvTszoTE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Cigarette smoking, N-acetyltransferase 2 genotypes, and breast cancer risk: pooled analysis and meta-analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18187392
was generated by: ECO_0000203

NP1796.RAndJhqxM-vuDDkBrBI2RKnWcpiXNFLbqfASsORETHqYM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Aromatic DNA adducts and polymorphisms of CYP1A1, NAT2, and GSTM1 in breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11872636
was generated by: ECO_0000203

NP1797.RAHeQAIDFR-0XqM5-YDA68jZFpO7KavhLYL4pyFgKOhAg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Association between N-acetyltransferase 2 (NAT2) genetic polymorphism and development of breast cancer in post-menopausal Chinese women in Taiwan, an area of great increase in breast cancer incidence.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10389748
was generated by: ECO_0000203

NP1798.RAJqVLsSaG3xmLlf7WQ Xd037mlGJ1PK1yU cQAdd5Vck
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In combination with NAT2 fast acetylator status, however, the SULT1A1*1/*1 genotype might increase breast cancer risk in women exposed to tobacco smoke.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15743503
was generated by: ECO_0000203

NP1799.RAyNdalh70XNztmuF3uhgLTLFyLMmURYkj1tWcup-VTKc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Women with the GSTT1 null genotype were found to have a significant 3.15-fold increased risk of breast cancer (95% CI = 1.7-5.8), while GSTM1 and NAT2 genotypes were not associated with breast cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12430181
was generated by: ECO_0000203

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has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [No effect of the NAT1, NAT2 or GSTM1 genotypes on breast cancer risk was observed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16049806
was generated by: ECO_0000203

NP1801.RAhgxmT0N61E8jrbWM5p9uvLWUMWCREYqOaGOS53Uitco
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Flame-broiled food, NAT2 acetylator phenotype, and breast cancer risk among women with benign breast disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16541303
was generated by: ECO_0000203

NP1802.RA-FsvoDbY5x4zDg1R3m18sXvJRjDlOg4idBEaDf--RSY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 slow acetylator genotype as an important modifier of breast cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15609332
was generated by: ECO_0000203

NP1803.RAKCaHtbHa5i4TIp swaX5kCTNRx4 UYrVFGRJD8K02D4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Tobacco smoking, NAT2 acetylation genotype and breast cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16721725
was generated by: ECO_0000203

NP1804.RA-KDH1KeJLjaNRJxc4-pzdCBZX5mpdvcwmYOiSyo9F0c
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Breast cancer-specific mortality was significantly increased in smokers with NAT2 slow acetylating status (HR 1.77, 95% CI 1.13-2.79) but not in those with fast acetylating status (HR 1.09, 95% CI 0.60-1.98; Pheterogeneity=0.19).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24950597
was generated by: ECO_0000203

NP1805.RAzNEiz1RxmcB W3A xDvEgv4LfLsmXeBlcXXAPTz2j2k
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The aim of this study was to determine the existence of association between the genetic polymorphisms of metabolizing genes GSTM-1, GSTT-1, and NAT-2, and the presence of mitochondrial genome instability (mtGI) in breast cancer cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19287511
was generated by: ECO_0000203

NP1806.RAisiwKo8YyV1fIt6qtJ5ab1WyM0LyNnu8fUrAyLf nkg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A case-only analysis of the interaction between N-acetyltransferase 2 haplotypes and tobacco smoke in breast cancer etiology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15987434
was generated by: ECO_0000203

NP1807.RA4F Uqh169JzQAis GuKZMA9Eq0eg20dVsw0KSYT-xfA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Differential effect of NAT2 on the association between active and passive smoke exposure and breast cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12163321
was generated by: ECO_0000203

NP1808.RACh56iTDiU1Y7XxP-T7WasDFlG85OWx5SjmJDIINhlsQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic polymorphisms of CYP2E1, GST, and NAT2 enzymes are not associated with risk of breast cancer in a sample of Lebanese women.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23628324
was generated by: ECO_0000203

NP1809.RAe-fc41XTRpGsm6XW6cWWDevDU85jKPBYLEhMMNVJJHk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Common polymorphisms in the N-acetyltransferase 2 gene (NAT2) modify the association between cigarette smoking and bladder cancer and have been hypothesized to determine whether active cigarette smoking increases breast cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22074863
was generated by: ECO_0000203

NP1810.RAPRyhiUQ 7TkE01WvffhWVYraR9btUrnGh8Ax4su4Hmk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 polymorphisms combining with smoking associated with breast cancer susceptibility: a meta-analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20180012
was generated by: ECO_0000203

NP1811.RAXDC-1VfnBImhcexxkB4SBIXZW2GUG0vrti-jjlSC8Nc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [N-Acetyltransferase-2 genetic polymorphism, well-done meat intake, and breast cancer risk among postmenopausal women.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11008907
was generated by: ECO_0000203

NP1812.RAGyjnG0a5QEePZCf3e-FOOr5Zny74IARkeConw83-KxA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Three meta-analyses report 35% to 50% increases in breast cancer risk for long-term smokers with N-acetyltransferase 2 gene (NAT2) slow acetylation genotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21148114
was generated by: ECO_0000203

NP1813.RAm5sgBIGr9i9LXkiBoZZIeXM2ijyXCZUDtSqBBhyKtp8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Cigarette smoking, N-acetyltransferase 2 genetic polymorphisms, and breast cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8903261
was generated by: ECO_0000203

NP1814.RA0n4VlqoQmepcQTJMg-AVXXap1A2TuB RS2QMS4d1sx4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A prospective study of NAT2 acetylation genotype, cigarette smoking, and risk of breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9395212
was generated by: ECO_0000203

NP1815.RAxEL9EGLL86KmmdUGWawxMd26U9atpTAU1V7Z2 GnTRI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: ['Comparison of extremes' approach provides evidence against the modifying role of NAT2 polymorphism in lung cancer susceptibility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15808403
was generated by: ECO_0000203

NP1816.RAlEgBTAwimcFB7CHabbJfOtgtO8zJHezDeUBJ1Bi0VtE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic polymorphisms in CYP1B1, GSTA1, NQO1 and NAT2 and the risk of lung cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15808404
was generated by: ECO_0000203

NP1817.RANn3C3Md-CsSOa q39PPI n1Gn7Uk1UAqXRwvGmz6pu0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The NAT2 slow genotype, in particular when combined with the GSTM1 null genotype, may confer increased susceptibility to adduct formation, gene mutation, and lung cancer when the smoking dose is low.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11219770
was generated by: ECO_0000203

NP1818.RA2TLeNe1T xCeVKH VteqsokDyn-Ogvb9Auft6AUhUT0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Glutathione S-transferase mu1 and N-acetyltransferase 2 genetic polymorphisms and exposure to tobacco smoke in nonsmoking and smoking lung cancer patients and population controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9796632
was generated by: ECO_0000203

NP1819.RAKRfJqlRKv5IVwkfwsJHtXVS51M j 9TSRdSiK NxXY8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 slow acetylator genotype is associated with increased risk of lung cancer among non-smoking Chinese women in Singapore.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10469638
was generated by: ECO_0000203

NP1820.RA-nOCaMIUJ-gX9fp3rChvvos64HRZzWKOBleeW2PJk20
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In conclusion, NAT2 rapid acetylator genotypes are protective against lung cancer in nonsmokers but are risk factors in heavy smokers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11815396
was generated by: ECO_0000203

NP1821.RAr17CEK0ImTH2XeRScyETMck2xC1UnzixCZlRq1hCH4E
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We investigated the independent and combined effects of the metabolic gene polymorphisms of NAT2 and GSTs on DNA adduct formation in different tissues (lung and blood) in lung cancer patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20501762
was generated by: ECO_0000203

NP1822.RA7 jEGRgXJs8xOqwZ3QIPyaopC9iiuF9I-3w YHthndk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 fast acetylator genotypes are associated with an increased risk for lung cancer with wildtype epidermal growth factor receptors in Taiwan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18706736
was generated by: ECO_0000203

NP1823.RABHUxwshu3UYkFehqGw9SlVwoGETdPdu8e-N-L1riQeE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 polymorphism and lung cancer risk: a meta-analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21292342
was generated by: ECO_0000203

NP1824.RAyOXrfrxzf1aY0zq2WM8xal4qMIvrnxWPjhpDbAnJMQY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 fast acetylator genotype is associated with an increased risk of lung cancer among never-smoking women in Taiwan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15890241
was generated by: ECO_0000203

NP1825.RA-Ddx4eVh-U8Lr-K0X5gjTEnw94E yscY85ess6tEYh0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Homozygous rapid arylamine N-acetyltransferase (NAT2) genotype as a susceptibility factor for lung cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8752164
was generated by: ECO_0000203

NP1826.RAir6A19UZulcDRDy6mc4DeLFlKSsGiWXzHrMV3w6PWbo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The aim of this study was to evaluate the contribution of CYP1A1*2A, CYP1A1*2C, CYP2D6*4, GSTP1, GSTM1, GSTT1 and NAT2 polymorphisms for the susceptibility to LC in a Portuguese population considering their demographic and clinical characteristics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25388590
was generated by: ECO_0000203

NP1827.RA8b9DOimWGOcFc6mKsx5fME7mdrqA6hnQExcqIuCiZpo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Impact of interaction of polymorphic forms of p53 codon 72 and N-acetylation gene (NAT2) on the risk of lung cancer in the North Indian population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19558213
was generated by: ECO_0000203

NP1828.RAH-hyUKMB8kdTFS-5Q0ldhJ1YSK5x0wg6cG7Ta6OyNd0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Individuals with the GSTM1-null and/or NAT2-slow genotypes may constitute susceptible groups with increased risk to contract non-operable lung cancer at younger age and lower smoking dose.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10607733
was generated by: ECO_0000203

NP1829.RAHkcyk28-z8QU5hWVmtq9v9I57lh8av9MuWlx5cziQLs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [However, a marked difference in NAT2*4/NAT2*4 genotype frequency associated with the patients gender was observed pointing to a male-specific effect of this genotype as a risk factor in colon cancer.The arylamine-N-acetyltransferase (E.C.2.3.1.5.) NAT2, a phase II detoxification enzyme, has been implicated in procarcinogen activation, namely from food contained arylamines, cigarette smoking, as well as environmental amines of various types.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9472690
was generated by: ECO_0000203

NP1830.RAr7ySlVEKbzBTc2qHfiLiSXPc53Cq-GzmdPiFKf-cK44
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We analyzed two such loci, the cytochrome P-450 gene CYP2D6 and the N-acetyltransferase 2 (NAT2) genes, in patients with bladder and colon cancer, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/7497646
was generated by: ECO_0000203

NP1831.RAzhoQQvp4cOqTjldDNZLIZqyZGZcHVD03aTeLePYz2vI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Individuals with NAT2 fast acetylator genotypes may have higher colon cancer risks due to faster conversion of certain carcinogens to mutagens.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/7743494
was generated by: ECO_0000203

NP1832.RAhcywLUpt33N47wpk ZC-MA70j0aYh10u5vjF3Q3Sqm8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [This study provides little support for an association between meat consumption and colon cancer risk but does provide some, albeit not strong, evidence for a modifying effect of molecular variants of the NAT2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9950235
was generated by: ECO_0000203

NP1833.RA4TVXUuTmpYZpb-bvTiDjzUCTm03TFuZHUOhJ90N6IY8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 genotype did not vary with other clinical features of colon cancer, which included Dukes's stage, site of tumour, and sex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9301503
was generated by: ECO_0000203

NP1834.RACe-bPdpvoyA4 zDcaMeKYfg0MWe3EwErbIW9xsxHoi4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We examined whether our previously reported associations between meat-derived heterocyclic amine (HCA) intake and colon cancer were modified by N-acetyltransferase 1 (NAT1) or 2 (NAT2) genotypes and whether there were differences by race.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18022202
was generated by: ECO_0000203

NP1835.RAyr9HVoX2xaTS0rZJEI6nGHgheKHmt P-7msFx7dlNRg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Western diet, family history of colorectal cancer, NAT2, GSTM-1 and risk of colon cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10680724
was generated by: ECO_0000203

NP1836.RABgzpPHpr4N85g-OwdsQBOWm2KjcIMYjk51XmNeE1YfE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Participants with one or more first-degree relatives with colon cancer showed a slightly higher prevalence of at-risk genotypes for each locus, but results were statistically significant only for NAT2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12568823
was generated by: ECO_0000203

NP1837.RAkftXCi skagwnyHnAe7M-CBkSsUIoqhnnamhliI0cJ8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Having GSTM1 present, a CYP1A1 variant allele, and the rapid-acetylator NAT2 imputed phenotype was associated with increased risk of colon cancer (odds ratio = 1.7, 95% confidence interval: 1.2, 2.3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15496536
was generated by: ECO_0000203

NP1838.RADnelyb54-Wd6qEbI2qbNZCfUEP2U7WFvdIKsGF cGSU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Neither NAT2 nor GSTM-1 polymorphisms were significantly associated with colon cancer, except among older women, in whom the intermediate/rapid imputed phenotype was associated with increased risk of colon cancer [odds ratio (OR) = 1.4, 95% confidence interval (CI) = 1.0-1.81.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9865425
was generated by: ECO_0000203

NP1839.RAnGjAFV8cGl105 eNCWW-WBW2BJp35KujD5u5o 7tcwY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To determine if genetic differences in NAT1 and NAT2 could alter risk of gastric cancer, we tested for the presence of polymorphic N-acetyltransferase alleles (both NAT1 and NAT2) in a preliminary study of 94 gastric adenocarcinoma patients and 112 control subjects from North Staffordshire, England.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10918189
was generated by: ECO_0000203

NP1840.RA3RQvph4oyixTAlIgTwdwS1Qw7S09RzDfvo1t28U0jqs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:11+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Effects of dietary factors and the NAT2 acetylator status on gastric cancer in Koreans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19350634
was generated by: ECO_0000203

NP1841.RAQQ1IJyoM2ToWUtyqj81kQPTS68eANcSAO55 YO0oam0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [GSTT1, SULT1A1 and NAT2 polymorphisms appear to modulate individual's susceptibility to gastric cancer in this Italian population, particularly when more than one unfavourable genotype is present, or when combined with cigarette smoke.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17996038
was generated by: ECO_0000203

NP1842.RAB5qgsNVf7FryUnS9KH22355jNAemMjsd8Ql5yrs6Yxc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [N-acetyltransferase 2 status and gastric cancer risk: a meta-analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25051916
was generated by: ECO_0000203

NP1843.RACwQqalqYaYfhzwUT65mm-WxKEuY7Gakm zPAf14kW4k
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 polymorphism in Omani gastric cancer patients-risk predisposition and clinicopathological associations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17569138
was generated by: ECO_0000203

NP1844.RAy4NuFRo-bwJE-8QKvaS42Svw8qV-8aWePwo6N8dkZ2Y
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [N-acetyltransferase 2 single-nucleotide polymorphisms and risk of gastric carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12012143
was generated by: ECO_0000203

NP1845.RAuGhZ9B5TBdHx8dQI3tT2Chz5tROlyI8vadiYvK-ba2k
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Relationship between genetic polymorphisms of drug-metabolizing enzymes (CYP1A1, CYP2E1, GSTM1, and NAT2), drinking habits, histological subtypes, and p53 gene point mutations in Japanese patients with gastric cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15064998
was generated by: ECO_0000203

NP1846.RAx4UaYgS7MBhVssmTUhNTYHpkNX4-IQCcRIB56zy5fT4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Polymorphisms in genes involved in the metabolism of environmental toxins (e.g., NAT2) clearly modify individual susceptibility to bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18562223
was generated by: ECO_0000203

NP1847.RAM3kSRVAoZN2E8f5rmJFgQunIm x4hy0wmfhieWmZ-8c
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Aromatic amines (AAs) and polycyclic aromatic hydrocarbons (PAHs) are carcinogens present in tobacco smoke and functional polymorphisms in NAT2 and GSTM1 metabolizing genes are associated with increased bladder cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18632753
was generated by: ECO_0000203

NP1848.RAJDzdOzWz-ZJc39t19waUpxTAWu8Qx57iPptRarlZN M
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genotypes of N-acetyltransferase-2 and risk of bladder cancer: a case-control study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10210437
was generated by: ECO_0000203

NP1849.RARU2eaxI1nlY6pmhHqgBm8VJPSOiFYL5xaTg6Y 4vEmc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Subjects possessing the NAT2 slow acetylation phenotype and the highest tertile of CYP1A2 scores showed the highest risk for bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21480221
was generated by: ECO_0000203

NP1850.RAwxFXu9QkdjTI7z-ky2WCMsNPi3Tn1MSnFu9y8TOgi k
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In conclusion, molecular genetic analysis of a large sample specified the increased bladder cancer risk of those who are deficient in NAT2 and GSTM1; the other traits proved to be of minor impact.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8752158
was generated by: ECO_0000203

NP1851.RAf32AAljNE5AQQ1 IVDN0FBofXK10K8r4d7Lt7OT3wHw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Polymorphisms in GSTT1, GSTM1, NAT1 and NAT2 genes and bladder cancer risk in men and women.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17026750
was generated by: ECO_0000203

NP1852.RABFHHye2EkGgkXHw2n1IhaL97coOYBfi7TXGMyBe4E 4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Dietary isothiocyanates, GSTM1, GSTT1, NAT2 polymorphisms and bladder cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17290402
was generated by: ECO_0000203

NP1853.RAKAWNVydLmwC4CbDHf2-5WWISlB Oplx0FiQVt4YoCt0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Gender-specific effects of NAT2 and GSTM1 in bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10845567
was generated by: ECO_0000203

NP1854.RAJulCx6HYoyqbfohB160Qjbb-NIFbi9s2xwXME9CcfTc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The enhanced bladder cancer susceptibility of NAT2 slow acetylators towards aromatic amines: a review considering ethnic differences.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11869833
was generated by: ECO_0000203

NP1855.RA iVcAmpX2MDqZk94VIqsHm1elq Czz6kS-Kf3vGy0E
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [GSTM1 null and NAT2 slow acetylation genotypes, smoking intensity and bladder cancer risk: results from the New England bladder cancer study and NAT2 meta-analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21037224
was generated by: ECO_0000203

NP1856.RA8nrog3MI0uCgia0YMuLhi9OenIWxa4crj2YV6IwBZxQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Dietary intake of vegetables and fruits and the modification effects of GSTM1 and NAT2 genotypes on bladder cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19549811
was generated by: ECO_0000203

NP1857.RAtTdzpY242LWUTszw9SqLqs2dHvn-IhXGU2R7Gt5nImo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Bladder cancer risk from smoking exposure is particularly high in those who inherit NAT2 slow alleles in combination with one or two copies of the NAT1*10 allele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9721868
was generated by: ECO_0000203

NP1858.RAPS-1LxDoD0wK2UkW72mXmpXL5xqv9HII3 D1Qp85kSI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Low activity of arylamine N-acetyltransferase 2 (slow NAT2) was consistently associated with urinary bladder cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10022251
was generated by: ECO_0000203

NP1859.RAbcc9tMyiNWxDTchDg4zyPCnc8ka6C8V1VCUHZjt h94
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In the pathogenesis of human bladder cancer due to occupational exposure to 'classical' aromatic amines (benzidine, 4-aminodiphenyl, 1-naphthylamine) acetylation by NAT2 is regarded as a detoxication step.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12872524
was generated by: ECO_0000203

NP1860.RAmMSSz0feCxQB qjv24zpJZ-W5idoLwY 05dDWnjUyI8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These findings confirm established or suspected occupational risk factors but not the anticipated role of NAT2 slow acetylation in bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24092628
was generated by: ECO_0000203

NP1861.RALxW7gmW7XVOejdySQTl8u8J0zD2sL 4ff2211Xy6Vy8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Cigarette smoking, N-acetyltransferase 2 acetylation status, and bladder cancer risk: a case-series meta-analysis of a gene-environment interaction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10815690
was generated by: ECO_0000203

NP1862.RADBLiiNktrVaX1w4YY1ZFee6k2 87i0a aXjv0JVbMHk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16112301
was generated by: ECO_0000203

NP1863.RAmU9VFaBHWnsNfWymdpiruKFddIca0Z 6C1JyD1lzzBc
has assertion: assertion
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has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Arylamine N-acetyltransferase type 2 (NAT2), chromosome 8 aneuploidy, and identification of a novel NAT1 cosmid clone: an investigation in bladder cancer by interphase FISH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10398432
was generated by: ECO_0000203

NP1864.RAQE UF9pFL0X-1mrBJkA7mF3lNsYxW1fsl-gNkePKk5k
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We examined the effects of ETS alone and combined with NAT2/CYP1A2 on bladder cancer risk among lifelong-nonsmokers in a case-control study involving 195 patients and 261 controls in Shanghai, China.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21056942
was generated by: ECO_0000203

NP1865.RAHAuTjKbAD6F6hj7pEOxPNcL9mZqaT4XNIGg-vn22Ux8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our data suggest that having a NAT2 slow acetylator genotype is a significant risk factor for BC, particularly in smokers and older individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15725609
was generated by: ECO_0000203

NP1866.RAzuNnQqtn53oigegJ-jkxNdjA0iNzevLn0-fmNFWMAno
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [N-acetyltransferase 2 and bladder cancer: an overview and consideration of the evidence for gene-environment interaction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10917561
was generated by: ECO_0000203

NP1867.RA-ppOTjylC6JmAJ3wx6MFnQ3V3bggw0tnohuio9hsAEg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We also hypothesized that allelic variants of the NAT1 and NAT2 genes might modify the effect of the XPD codon 751 polymorphism on smoking-associated bladder-cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12376500
was generated by: ECO_0000203

NP1868.RALxBOGM8rw6yVpluu7XkAb12F9CWxVhaN EnxnhzEjLs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [An increased risk of bladder cancer was found in NAT2 slow acetylators (odds ratio = 1.46, 95% credible interval (CI): 1.26, 1.68) but not in NAT1 fast acetylators (odds ratio = 1.01, 95% CI: 0.86, 1.22).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17675654
was generated by: ECO_0000203

NP1869.RA6ZJUgJVIWy9ykSnef9O8dpTj0eK7wC4t2d3e 5VIKts
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [They support the hypothesis that among subjects with the rapid NAT2 acetylation genotype higher levels of HAAs exposure are a bladder cancer risk factor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18264785
was generated by: ECO_0000203

NP1870.RATiCTSlvj6FAeQXeikuMgw fBq3DvmlUHfyJ03KX6hsw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Association of NAT1 and NAT2 polymorphisms to urinary bladder cancer: significantly reduced risk in subjects with NAT1*10.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11431340
was generated by: ECO_0000203

NP1871.RAOLNoD7qB6fGRRF4GfVlf9gxyHLpZxO TX7WrbV5QF7I
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 polymorphisms, which are due to point mutations in the structural gene, have long been associated with higher risk for bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8597119
was generated by: ECO_0000203

NP1872.RA61cbKiK-5tv-cfDgL zbp34t5ECPQtChTJIwP9kfNkU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Impact of misclassification in genotype-exposure interaction studies: example of N-acetyltransferase 2 (NAT2), smoking, and bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15342459
was generated by: ECO_0000203

NP1873.RAK304BXhBL7q7x40MXRDQb92Rsi-z75j4-GmBjGhzh 4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Among these women, we found an increased risk of bladder cancer among exclusive users of permanent hair dyes who had NAT2 slow acetylation phenotype (OR = 7.3, 95% CI: 1.6-32.6) compared to never users of dye with NAT2 rapid/intermediate acetylation phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21678399
was generated by: ECO_0000203

NP1874.RAmxZ6t3ujiQl qty1Nnp0tk JVVVevKXjWJYPZoEZ2Aw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We first use empirical data on the frequency of the N-acetyltransferase (NAT2) slow acetylation genotype and incidence rates of male bladder cancer and female breast cancer in non-Hispanic U.S. Caucasians with ancestries from eight European countries to assess the bias in a hypothetical population-based U.S. study that does not take ethnicity into consideration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10904088
was generated by: ECO_0000203

NP1875.RAfRUpcXbR4FBtJS VjwDgr8jHRAftGmD LWPk9RLR8Uw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Previously, we showed that NAT2 polymorphisms did not influence bladder cancer risk among Chinese workers exposed exclusively to benzidine (BZ), suggesting that NAT2 N-acetylation is not a critical detoxifying pathway for this aromatic amine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8643532
was generated by: ECO_0000203

NP1876.RAKFeeNMBUXNfjy1WZWrvk1CVWmZbtxpvtIRSJib1aYRs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Numerous studies have shown that slow NAT2 haplotypes are associated with increased urinary bladder cancer risk and increased risk of anti-tuberculosis drug-induced hepatotoxicity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24524665
was generated by: ECO_0000203

NP1877.RAASYidAV7jpvQ7gb2lGeoMC51oaipNxu0y1m7tq3Qo38
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Associations between slow NAT2 acetylator genotypes and urinary bladder cancer and between rapid NAT2 acetylator genotypes and colorectal cancer are the most consistently reported.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10667461
was generated by: ECO_0000203

NP1878.RAYof2WihQHGNI wfUUZZX9xK5MEQ0ImdJlvpm5joSvr8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Evidence for an intensity-dependent interaction of NAT2 acetylation genotype and cigarette smoking in the Spanish Bladder Cancer Study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17510079
was generated by: ECO_0000203

NP1879.RAGrdkuvAeDtkHMRKlcqG79ckv5UWk8wMd IXiYDIub9w
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Evidence for a putative association of NAT1 polymorphism and myeloma, lung and bladder cancer, as well as association of NAT2 polymorphisms with non-Hodgkin lymphoma, liver, colorectal and bladder cancer have been reported.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18680472
was generated by: ECO_0000203

NP1880.RAHgjk0ZcXTWb6sx8 M3-lSuxR9gNbwz SFuN-CPk0qkA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Polymorphisms in NAT2 have long been recognized to modulate toxicity produced by the anti-tubercular drug isoniazid, with molecular epidemiologic studies suggesting a link between acetylator phenotype and increased risk for bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20183529
was generated by: ECO_0000203

NP1881.RA8YonB7ZQfKkYTcOExuhIWWtZWtt594MwCo9Ld23YlJI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We finally apply the scheme to the interaction between NAT2 polymorphism and tobacco smoking in determining bladder cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22596931
was generated by: ECO_0000203

NP1882.RA9tqKQZvR8lduEF3DZ84Qo7PtdtO1mo4xOEdVjxy4PXw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Association Between N-acetyltransferase 2 Polymorphism and Bladder Cancer Risk: Results From Studies of the Past Decade and a Meta-Analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/26585839
was generated by: ECO_0000203

NP1883.RAldocE2pgcC9wEqR7ouro4NPJbr8qw7XhGHaaixshld4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Multiple studies have shown that the urinary bladder cancer risk is particularly high in the slowest NAT2 acetylator phenotype or genotype (NAT2(*)5).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12351146
was generated by: ECO_0000203

NP1884.RAnnxNWYdIke4EYL9w5uFXIw2eniMttrzA1Oig5DR zPQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [N-acetyltransferase 2 genetic polymorphism: effects of carcinogen and haplotype on urinary bladder cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16550165
was generated by: ECO_0000203

NP1885.RAkR4fs7DA39uKqSiJrUHTLjRAz 7rCKH nqIJPSerkDY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 slow acetylation and bladder cancer in workers exposed to benzidine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16003747
was generated by: ECO_0000203

NP1886.RAS3DECElXrN79upR64H ZPhZkpiZQDWje6-Z9YzCMEcw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Current smoking, occupation, N-acetyltransferase-2 and bladder cancer: a pooled analysis of genotype-based studies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11751441
was generated by: ECO_0000203

NP1887.RAooweaaAUQcGlC8Pf1z1Jsepgiatc9vkj 0FE0hlfcdU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In our analysis of smoking and bladder cancer, the tests for multiplicative interaction seemed to more commonly identify susceptibility loci with associations in never smokers, whereas the additive interaction analysis identified more loci with associations among smokers-including the known smoking and NAT2 acetylation interaction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24662972
was generated by: ECO_0000203

NP1888.RAWI0Jd0YoGjLkLbR8u5Et8wFPa9c-BaGPm231Tim30ro
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 slow acetylator was associated with marginally increased risk of bladder cancer (OR = 1.50, 95% CI = 0.99-2.27), and the OR for the joint effect with occupational exposure of aromatic amines was 3.26 (95% CI = 1.06-9.95).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15122594
was generated by: ECO_0000203

NP1889.RAImxr-yRobw3MOSyeBwn7sSUwPKsQB3H6AssO2yLDKoQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genotyping of the polymorphic N-acetyltransferase (NAT2) and loss of heterozygosity in bladder cancer patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9660060
was generated by: ECO_0000203

NP1890.RA- W-QAw1KaoPy t6F3hyGpqZPJ5NI4qpReDZG3P67MM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Similarly, higher risks of lung or bladder cancer seen at various levels of smoking in association with polymorphism of the glutathione S-transferase gene GSTM1 or NAT1 and NAT2 genes involved in N-acetylation are reviewed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9255556
was generated by: ECO_0000203

NP1891.RA4kpgWAS2PN00wND3v1wh13UkWTkvCSpxnsfaBJL Bno
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The results suggest that NAT2 slow acetylator status is associated with a modest increase in risk of bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11044903
was generated by: ECO_0000203

NP1892.RA5AxpUtixTgCA-WR-huT5fjlqif807h9dM0uQ06B7B5I
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Common polymorphisms in the N-acetyltransferase 2 gene (NAT2) modify the association between cigarette smoking and bladder cancer and have been hypothesized to determine whether active cigarette smoking increases breast cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22074863
was generated by: ECO_0000203

NP1893.RAbJ7YtxXZsWnsilPLjaf2hw1Hn58cfWhfwRqiFQRA--g
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Two established bladder cancer susceptibility genotypes, NAT2 slow-acetylation and GSTM1-null, exhibited similar associations among the subphenotypes, as did VEGF-rs25648, which was previously identified in our study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19692168
was generated by: ECO_0000203

NP1894.RAy6Pz4-RhWgoIXWvLemaP-DsdXgN8wgr5 W ZkeUfgQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Polymorphisms in the NAT2 and the HLA-DPB1(G)(lu69) genes provide classic examples of how genetic susceptibility markers have a clear role in identifying disease risk in bladder cancer and chronic beryllium disease, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18487431
was generated by: ECO_0000203

NP1895.RAwuFNddnjWG0zZswvp6Fs2FiV9nmgP9et7Bciw-063CU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The results are consistent with the hypothesis that NAT1 and NAT2 might modulate the susceptibility to bladder cancer associated with cigarette smoking.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10507782
was generated by: ECO_0000203

NP1896.RAfObjBTI6YZfnELJcJ1lCsCyuKODcHTZn7RULWgQhKtI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our results suggest that smoking coke oven workers with genotypes unfavourable for detoxification of aromatic amines (NAT2-ss) and PAH (GSTM1-null) may have an increased risk of developing bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8761425
was generated by: ECO_0000203

NP1897.RAiE3rvYRr-mnswK-RXS9noY8PIfJrM0LBANVJBvn0Ick
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A recent case-control epidemiology study suggested that human NAT2 slow acetylators exposed to oxidative hair dyes may be at greater risk to develop bladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15350687
was generated by: ECO_0000203

NP1898.RAdsnEqokd5rSJa2FYVeJshd2OQxdd6sljS7zSI10kUvE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [White blood cell DNA adducts, smoking, and NAT2 and GSTM1 genotypes in bladder cancer: a case-control study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9568791
was generated by: ECO_0000203

NP1899.RAHjgI8v5W7rKRoA-o4C6foJWNouOcJ5z24LrnH g9kYM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The OR of bladder cancer for those reporting family history of bladder cancer was 4.76 (95% CI, 1.25-18.09) among NAT2-slow acetylators and 1.17 (95% CI, 0.17-7.86) among NAT2-rapid/intermediate acetylators (P(interaction) = 0.609).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17684133
was generated by: ECO_0000203

NP1900.RAxpSHDXVQpjDZ9Tc9jCNBa8KgcpCNxYMWHMzbI 6Qm2M
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Arylamine N-acetyltransferase 1 (NAT1) and 2 (NAT2) polymorphisms in susceptibility to bladder cancer: the influence of smoking.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9107426
was generated by: ECO_0000203

NP1901.RAQr6dl5I4ii80BmzyunXhDv6DHgJtH96iT7sD3TeYcgk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our findings suggest that the NAT2*5A genetic polymorphisms plays a significant role in the steady-state concentrations of phenytoin and thereby have impact on toxicity in epileptic patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22268821
was generated by: ECO_0000203

NP1902.RAFb5eTYH1h7L7qorO1AuvIGHStNmolopswpEdZJwEH7k
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We conducted a case-control study to investigate the role of NAT2, GSTM1 and GSTT1 in premenopausal breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12430181
was generated by: ECO_0000203

NP1903.RAZ0BE8MbJ-C3vKeO VXUzxIq mvmBdHQeBfi1vJgSl M
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We investigated whether polymorphic variants of fetal acetyl-N-transferases 1 (NAT1) and 2 (NAT2) interact with maternal cigarette smoking during early pregnancy to increase the risk of delivering an infant with an orofacial cleft.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15127906
was generated by: ECO_0000203

NP1904.RAZhm32XEd6HYMS6DDMq-MH8J3WufcJQZIxEr53mlCtDU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The NAT2 acetylator genotype may modify esophageal cancer risk in humans from exposure to barbecued/grilled meat.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12773763
was generated by: ECO_0000203

NP1905.RALSFKEia-TBiGpBO Z3rvtjYdRbdUveqeoMECHXxqg90
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 slow acetylator genotype may increase susceptibility to ESCC, and NAT2 haplotypes (C(481)A(590)G(857) and T(481)A(590)G(857)) may predict susceptibility to EC and GC in the Kashmir Valley.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19766908
was generated by: ECO_0000203

NP1906.RAYAVKWqLIP8NoZ73zgu7zVfpLmBuqP3zPzDdeDcPIInw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our results suggest that the ADH1C allele modifies the carcinogenic dose response for alcohol in the upper aerodigestive tract, giving rise to a gene-environment interaction. The role of genes as possible modifiers of life-style risks seems the most relia]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20437850
was generated by: ECO_0000203

NP1907.RAA39DcdXekgVOS7bks5DeiikzQgIlZ5ifo8oF gOowAo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These results suggest that NAT2 acetylator genotypes did not influence the susceptibility to esophageal cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17661210
was generated by: ECO_0000203

NP1908.RAcE8S5ZpVEeAntGNurtHwwwP2-WQRV8tYxy CqUAY6M4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19339270
was generated by: ECO_0000203

NP1909.RAteHzQSPzqr8pBFT8EwObHQOOpSv3Z7O4y8fCsW26O Q
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic polymorphism of N-acetyltransferase 2 in patients with esophageal cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11774959
was generated by: ECO_0000203

NP1910.RA97dwREJe3JiWGiyDwfLBDVZZUjsIHK5m2aEL7SRkyG4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [N-acetyltransferase 2 polymorphisms and risk of esophageal cancer in a Chinese population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24586291
was generated by: ECO_0000203

NP1911.RA QhOPndz6IdvQYqXSmViCtb76ML0ffKzztr96QCUWWc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19826048
was generated by: ECO_0000203

NP1912.RA0jpWVdB8v w5WdFJW4oYL7J7LHxET37oKEYkTjRurpo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To analyze the distribution of N-acetyltransferase 2 polymorphism in Japanese patients with esophageal squamous cell cancer, a molecular genotyping method using a polymerase chain reaction-based restriction fragment length polymorphism was used.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11774959
was generated by: ECO_0000203

NP1913.RATtoVlQuWWJYIhHHjz 8ODAJQe3LvZuvP9qMspwswWZM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [N-Acetyltransferase 2 polymorphisms, cigarette smoking and alcohol consumption, and oral squamous cell cancer risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11751430
was generated by: ECO_0000203

NP1914.RAAe0eA75DzGDEmWF3VmRuCffdlGTJQBbBhNPTNNyPgOE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Despite careful medical record review and full resequencing of the NAT2 coding region, we found no association of NAT2 coding alleles with sulfonamide hypersensitivity (predominantly cutaneous eruptions) in this adult Caucasian population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22850190
was generated by: ECO_0000203

NP1915.RAYc5tAFxCFvzYgEMQ2y365xrbQUIWvKicQayXhFxnfSE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [There was no association between NAT2-haplotypes and skin rash or eosinophilia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18023090
was generated by: ECO_0000203

NP1916.RAfUsXb89JmzDqrH8ukYya7mO7InOdfxq5jVTsDybzorA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 slow metabolizers are more prone to the side effects of polymorphically acetylated drugs, as is the SLE-like syndrome induced by hydralazine and procainamide, the side effects due to sulphasalazine and the skin rash secondary to many sulphonamides.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18680473
was generated by: ECO_0000203

NP1917.RA pP356FY-cLFdwygHU52Vc 30oRqF0ivToBYtCNHeIA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The presence of synergisms between genotypes, i.e., mEH and NAT2 (LRT for heterogeneity p<0.023), mEH and GSTM1 (LRT p<0.061), and NAT2 and GSTM1 (LRT p<0.049), combined with the interaction observed with exposure to asbestos, suggests the presence of gene-environment and gene-gene interactions in the development of MM, although the size of the study group does not allow to draw clearcut conclusions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15993904
was generated by: ECO_0000203

NP1918.RALNtbxLaiI4mxuLSzowHOl6svBRpN qf9gHtijBWiCz0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [On the other hand, the nucleotidic change 282C>T within NAT2 held the statistical significance (OR=3.54; 95% CI 1.75-7.16; p=0.0002), reinforcing existing evidences that describe genetic polymorphisms of NAT2 possibly involved in the etiology of the MPM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19751749
was generated by: ECO_0000203

NP1919.RAlIIPimJyW S PLvqSPY8AUfcwWJz-bF8RvualKMBvPY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The overview of allele distribution of important xenobiotic-metabolizing enzymes among a Russian population shows similarity to other Caucasians. The data will be useful for clinical pharmacokinetic investigations and for drug dosage recommendations in t]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12879168
was generated by: ECO_0000203

NP1920.RA0KlTH66aFeV-HqPFgX5CHBpXEyFBZx2yS-X6lPpzyK8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Variations at these loci may contribute to an understanding of the way in which different genotypes may affect the activities of human N-acetyltransferases, especially as regards the therapeutic efficacy of certain drugs and antibiotics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11393533
was generated by: ECO_0000203

NP1921.RADhn3KGFR9NvNPm09MEFUVod4hZiLsPaBQ30E87mGLPI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [CYP2E1 genotype and isoniazid-induced hepatotoxicity in patients treated for latent tuberculosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16770646
was generated by: ECO_0000203

NP1922.RABos5xKcHOx5OR I10pog49KClXngxnx4hU5zJUgnhDI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Determining the relation between N-acetyltransferase-2 acetylator phenotype and antituberculosis drug induced hepatitis by molecular biologic tests.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18330759
was generated by: ECO_0000203

NP1923.RAjkubF57xFvhpCcWArsBB6tMqG5xdSQv4 C7nno aVQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic variations of NAT2 and CYP2E1 and isoniazid hepatotoxicity in a diverse population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19761367
was generated by: ECO_0000203

NP1924.RAXgK81mjs5DnXwObt9WET2RBaMHiZE25V7bFu7rNDXV0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic polymorphisms of drug-metabolizing enzymes and anti-TB drug-induced hepatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19891553
was generated by: ECO_0000203

NP1925.RA2jrcdc7QA quv7ZGcGP3oCRG7sfR1e9GzJIa9HO9gyE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Increased risk of antituberculosis drug-induced hepatotoxicity in individuals with glutathione S-transferase M1 'null' mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11595069
was generated by: ECO_0000203

NP1926.RAysPsXvXQuehc70 55Rt3E7Gg782cqb5SgPe47s24kZ8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [For genes relevant to drug metabolism, the best replicated association is between isoniazid DILI and NAT2 slow acetylation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20415545
was generated by: ECO_0000203

NP1927.RARRWK0kKKgaC9-tW-WLBGT1TSmAaRkvH-JBfD0pM25DQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic polymorphisms of NAT2 and CYP2E1 associated with antituberculosis drug-induced hepatotoxicity in Korean patients with pulmonary tuberculosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17950035
was generated by: ECO_0000203

NP1928.RA Rb4epXXJtCWb Ln03NimY4DxYuiRwYeGhQXo4veRIQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Susceptibility of N-acetyltransferase 2 slow acetylators to antituberculosis drug-induced liver injury: a meta-analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/26616266
was generated by: ECO_0000203

NP1929.RA775 vLq gpPcvbXeEuSxBQRA - qReni5DLqraBfgyg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Cytochrome P450 2E1 genotype and the susceptibility to antituberculosis drug-induced hepatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12668988
was generated by: ECO_0000203

NP1930.RANKwNsb46J5wWnksX0XC3D3FKeaQflSdNnFg8RtvLcLU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Drug-metabolising enzyme polymorphisms and predisposition to anti-tuberculosis drug-induced liver injury: a meta-analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18713495
was generated by: ECO_0000203

NP1931.RAgVdWJoD6lIke3sJ8O0poNBCnFGBUtTDqKH P2113bEg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [DNA microarray genotyping of N-acetyltransferase 2 polymorphism using carbodiimide as the linker for assessment of isoniazid hepatotoxicity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16246623
was generated by: ECO_0000203

NP1932.RAhSk-TBS-dIzR3ZEXp-gk6hwrR6J1t76zecGZDW0AlaQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A recent clinical trial used N-acetyltransferase 2 genotyping to determine the appropriate dose of isoniazid in an anti-tuberculosis therapeutic regimen and demonstrated that pharmacogenetic-based clinical algorithms have the potential to improve efficacy of a drug and to reduce DILI.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25809692
was generated by: ECO_0000203

NP1933.RAjLJ02SenFfCWLzdT-jsLf2 TTIcMQZLVdzfxAmMbD5A
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [NAT2 6A, a haplotype of the N-acetyltransferase 2 gene, is an important biomarker for risk of anti-tuberculosis drug-induced hepatotoxicity in Japanese patients with tuberculosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18023090
was generated by: ECO_0000203

NP1934.RAQsQvQU01JIN9fq8yEqbIg50QMK4CZ99FhxK-rWEnKIo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Though the associations with non-HLA genes have been less well replicated than the HLA associations, there is increasing evidence that drug metabolism genes such as NAT2 and UGT2B7 contribute to some forms of DILI.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24879978
was generated by: ECO_0000203

NP1935.RAS8yZKnxXrlX0hGDY26 oIni1ETzhJhZfGmKu5P9wvDk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Conclusive evidence for association with DILI risk has been obtained for non-mutated CYP2E1, slow NAT2 and slow GSTM1 genotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20214588
was generated by: ECO_0000203

NP1936.RAu7XLBhqKCcJlcbh3EmV1EVIsktaaYoRTL QIWiVudA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Among the patient-specific determinants of susceptibility to INH-associated DILI, the importance of HLA genetic variants has been increasingly recognized, whereas the role of polymorphisms of drug-metabolizing enzymes (NAT2 and CYP2E1) has become less important and remains controversial.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24783247
was generated by: ECO_0000203

NP1937.RAuFEYayt3pmRbFZzzDZ61IleTker ylXHcPIcP6CeUe0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The slow acetylator status of NAT2 is a significant susceptibility risk factor for ATDH. CYP2E1 is associated with the severity of ATDH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20392357
was generated by: ECO_0000203

NP1938.RA97yDJsOViSFlDSS6oFOCeXThoxtXB 9D58fdwe6WqLk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [N-acetyltransferase 2 (NAT2) genotype as a risk factor for development of drug-induced liver injury relating to antituberculosis drug treatment in a mixed-ethnicity patient group.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24888881
was generated by: ECO_0000203

NP1939.RAGS0VCQuZ69G1LAcNiGOl7cLrwbGRd4ezusvCsXspbJc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Differences at the genetic level revealed distinct disease functions and operational pathways in African Americans and Caucasians in spontaneous preterm birth.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19527514
was generated by: ECO_0000203

NP1940.RAzOheX7RSP--azZIFywOO7vbgVhKM KIOh60fkaOfAq8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Despite causing similar proteostatic damages, the adPEO- but not the cardiomyopathy/myopathy-type Aac2 proteins form large aggregates.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25833713
was generated by: ECO_0000203

NP1941.RAbjFJ1N-Fsu7Fbyg9mmqu FhbAEigVtLN3nD5208bgNk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [More interestingly, the aac2(A137D) allele mimicking ant1(A123D) in mitochondrial myopathy and cardiomyopathy exhibits similar dominant phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18809618
was generated by: ECO_0000203

NP1942.RAj53vm9y2-vLm-fxHN07hrxcZh04xffgI7Mw6ZuFJfBU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Interaction of the cytochrome P4501A2, SULT1A1 and NAT gene polymorphisms with smoking and dietary mutagen intake in modification of the risk of pancreatic cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18499698
was generated by: ECO_0000203

NP1943.RAaJFQAHX28pSB7bIR2n34Qq-lljkmaIE2gne-uIrdaTE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Risk of malignant pleural mesothelioma and polymorphisms in genes involved in the genome stability and xenobiotics metabolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19751749
was generated by: ECO_0000203

NP1944.RAycgDlholDOxN14xFfDdODRGAwxWtEqAEnoSj8Qz3VAM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18992263
was generated by: ECO_0000203

NP1945.RAQVy-3pCuV0ZFQIQw0ZKRrttbCb1QFQPs2WKzXY XdRI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Somatic alterations, metabolizing genes and smoking in rectal cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19358278
was generated by: ECO_0000203

NP1946.RAcb98RTd9A-8Z5vdsonMEauaBPviC6 T4HweQOzHPBFM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Flame-broiled food, NAT2 acetylator phenotype, and breast cancer risk among women with benign breast disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16541303
was generated by: ECO_0000203

NP1947.RABFpPYTd9IDqcal0HpGBgyKQh3VX9ZobMNE9BrcuX12U
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Using data from the Tennessee Colorectal Polyp Study, a large colonoscopy-based study, including 1,002 polyp cases (557 adenoma only, 250 hyperplastic polyp only, 195 both polyps) and 1,493 polyp-free patients, we evaluated the association of colorectal polyp risk with carcinogen exposure from meat and genetic polymorphisms in enzymes involved in heterocyclic amine (HCA) metabolism, including N-acetyltransferase 1 (NAT1) and N-acetyltransferase 2 (NAT2), cytochrome P450 1A2 (CYP1A2), and aryl hydrocarbon receptor (AhR).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18268115
was generated by: ECO_0000203

NP1948.RA7hegazdSWwMBM8W0YI7 i1jqI1jnS9PpgCWaIY3QiXE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We analyzed interactions between talc use and genes in detoxification pathways [glutathione S-transferase M1 (GSTM1), glutathione S-transferase T1 (GSTT1), and N-acetyltransferase 2 (NAT2)] to assess whether the talc/ovarian cancer association is modified by variants of genes potentially involved in the response to talc.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18768514
was generated by: ECO_0000203

NP1949.RAHRUvDJMLFV4zhOWbF HvmYpI73IrAPd5cvsfGrOFKuo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We analyzed interactions between talc use and genes in detoxification pathways glutathione S-transferase M1 (GSTM1), glutathione S-transferase T1 (GSTT1), and N-acetyltransferase 2 (NAT2) to assess whether the talc/ovarian cancer association is modified by variants of genes potentially involved in the response to talc.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18768514
was generated by: ECO_0000203

NP1950.RAqSwRXdb4tGVd2PtSyvoHhxxD4ISmAPsDxyY 96EdkDs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The odds ratios for ovarian cancer risk were 2.02 (95% confidence interval CI = 1.14-3.56) in the NAT2 intermediate acetylators and 4.07 (95% CI = 1.30-12.70) in the slow acetylators.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19031960
was generated by: ECO_0000203

NP1951.RAJXYrX3vp7QSPZzgjaJRvRUytsRmN4aa20IG3T3mak4o
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genotype of N-acetyltransferase 2 (NAT2) polymorphism in children with immunoglobulin E-mediated food allergy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11372006
was generated by: ECO_0000203

NP1952.RAISkxHMBjlhHfj iabd8xCj paWZ-yfOSYLT1dsZinCk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Most prior genetic studies on antituberculus drug-induced hepatitis have focused on a few drug-metabolizing enzymes such as cytochrome P450 and N-acetyltransferase 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20485159
was generated by: ECO_0000203

NP1953.RAdp3hRsHy1agSSWnxYYRqi9YgTQeerd1 Majd-U1KL1o
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Polymorphism of the N-acetyltransferase 2 gene as a susceptibility risk factor for antituberculosis drug-induced hepatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11915035
was generated by: ECO_0000203

NP1954.RAyeHoKT3TG50DhLOirjeQ-BB5d4xhCvy-nXTAzQOTzmI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These findings suggest that genetic variants in the promoter and exons of NAT2 increase the risk of anti-TB drug-induced hepatitis by modifying acetylation phenotypes and/or gene expression of NAT2, and there is no essential role for genetic mutation of the other metabolizing enzymes in the development of this adverse reaction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19891553
was generated by: ECO_0000203

NP1955.RALWXOe4Ul3zL zo6S8HvOM2z-z-gtqD7L5neBGPMHOLo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We investigated the association of Parkinson's disease (PD) with two genes encoding liver-detoxifying enzymes, debrisoquine 4-hydroxylase (CYP2D6) and N-acetyltransferase 2 (NAT2), and with one gene related to Alzheimer's disease, apolipoprotein E (APOE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10928584
was generated by: ECO_0000203

NP1956.RAmbU4mIDDAhoqNEsEWSy8FwwqQiE4G-MAg97f8Q7Rkdw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The NAT2*5/NAT2*5 genotype was more frequent in PD patients with dementia; the NAT2*4/NAT2*5 genotype was more frequent and the NAT2*4/NAT2*6 genotype was less frequent in AD patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18033638
was generated by: ECO_0000203

NP1957.RAIrxTjmPrctS2nVma-tmBkTJCtqA8Eqac9iP- frCjls
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [N-Acetyltransferase 2 gene polymorphism in a group of senile dementia patients in Shanghai suburb.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15339384
was generated by: ECO_0000203

NP1958.RANDimZ0aK9zxXliZlMx3S-eUWbOoO959ILWno42tKzJo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [There were no substantial differences between the industrial and control groups with respect to the frequencies of rapid and slow acetylator genotypes revealed at the analysis of the NAT2 gene polymorphism. However, considering the concomitant diseases, i]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/14582397
was generated by: ECO_0000203

NP1959.RAWgVnNGh9A F68D4vY2iixCQ4Gzcy-n-rZz0U-pk2BWg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These results suggest that NAT2 slow acetylator phenotype influences the susceptibility of gallbladder cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17224641
was generated by: ECO_0000203

NP1960.RAw6Sdkin CHzzwM5o6EcP9DaMDvdijfG9DBrObzMkq9c
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Expression of ?1-ACT is down-regulated in human hepatocellular carcinoma (HCC) tissues and cells; we examined its roles in liver regeneration and HCC proliferation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23295442
was generated by: ECO_0000203

NP1961.RATVFgJRbFfJ7ww-cxUzSnv9Y7qQ DqL85IKYbkRaCspE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In addition to being produced in the liver and released into the serum, alpha 1-antichymotrypsin is expressed in Alzheimer brain, particularly in areas that develop amyloid lesions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/3257719
was generated by: ECO_0000203

NP1962.RA1ZdI2RqQCfegkOpXFz2z6ThU0vrzJzou-5f1Z-sF8D8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The development of compounds able to interfere with the ACT biological activity (protease inhibition and/or promotion of amyloid deposition) might have therapeutic relevance for the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18991685
was generated by: ECO_0000203

NP1963.RA5hTwVwcQZoiCNQVYY-0ZY1BmuZBTpZ24xip7HLJxZJc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [This effect is probably mediated by a higher binding affinity of the transcription initiation complex to the higher expressing allele and overexpression of ACT by astrocytes could thus contribute to increased beta-amyloid fibril formation in AD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15530656
was generated by: ECO_0000203

NP1964.RAUOfDddNmjHdffZiPwuJgi ayqDjj fpB1sef220I8uU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Immunohistochemistry for ApoE, ApoJ, serum amyloid P (SAP), alpha-1-antichymotrypsin, cystatin C, heparan sulphate proteoglycans, such as agrin, perlecan, syndecans, glypican-1 and for heparan sulphate glycosaminoglycan (HS GAG) side chains was carried out together with immunohistochemical preparations specific to the amyloid subunits.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16972883
was generated by: ECO_0000203

NP1965.RAE DnWjzX-mMLUyc9q zcjSfVG GXKGH7yp4b3 jDjY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Recently, we found the amyloid associated proteins (AAPs) ?1-antichymotrypsin (ACT), apolipoprotein J and E (ApoJ and ApoE) and a mixture of serum amyloid P (SAP) and C1q (SAP-C1q) to modify A?-uptake by human astrocytes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22101005
was generated by: ECO_0000203

NP1966.RAsoVJh-VdatQaKwMI9QRtrXYRg3kA6dnfKeKfG9SUIxY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Immunocytochemistry of aged cynomolgus brain showed A beta P deposited in blood vessels and diffuse and compacted plaques closely resembling those of humans, and the presence of beta-amyloid-associated proteins (alpha 1-antichymotrypsin; complements C1q and C3c) characteristic of A beta P deposits in Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/1905108
was generated by: ECO_0000203

NP1967.RAPy8XVIsJwhRwdHHZiK2q9Vglwe5eATfMbEcPq5g27gs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our data demonstrate that ACT promotes amyloid deposition and provide a specific mechanism by which inflammation and the subsequent upregulation of astrocytic ACT expression in AD brain contributes to AD pathogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11222634
was generated by: ECO_0000203

NP1968.RAfBoOpPgJE17a0TxcT3Zm6RIRMq0R xwXXmC30VzTLqs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [They contain amyloid-ss (Ass) peptides in tight association with the serine protease inhibitor alpha(1)-antichymotrypsin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11106573
was generated by: ECO_0000203

NP1969.RAWWXB8v7q6tIh6f5-Vu9kkVXM9TXnWFCo6U5Swe0-8wA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The physiological result would be an enhanced ability of the A-encoded alpha(1)-antichymotrypsin protein to become secreted and promote extracellular amyloid formation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11578771
was generated by: ECO_0000203

NP1970.RAFFAPvg359bAMJOD7E5j60nCwdUnDn gwHrxRUcvkfsM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Differential expression of Cathepsin B and D, GFAP and SERPINA3 was repeatedly found to be significant in both the mouse model and ALS patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23286751
was generated by: ECO_0000203

NP1971.RA-Wx3WUOcxzZfUCX4JXLjeeOeyXHFhzAcDA6F2UHjFOo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [MiR-137 directly targeted ACT, thereby indicating that ACT and miR-137 play a role in the pathophysiology of HF and reverse remodeling during mechanical support.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23640964
was generated by: ECO_0000203

NP1972.RAhJDqcy1CBSML8WmsG4J2nL1Y-pPlSw54sSs1KJxeYco
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Among these genes, many were observed to be involved in mitochondrial dysfunction and oxidative phosphorylation and 3 extracellular molecules, including periostin, pleiotrophin, and SERPINA3, which might become novel diagnostic and therapeutic targets for HF.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19638707
was generated by: ECO_0000203

NP1973.RAxA6KUMqJJ6VoEmCuGDPY3kAh7HZIcqynKMEk8rnZRgI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Among these genes, many were observed to be involved in mitochondrial dysfunction and oxidative phosphorylation and 3 extracellular molecules, including periostin, pleiotrophin, and SERPINA3, which might become novel diagnostic and therapeutic targets for HF.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19638707
was generated by: ECO_0000203

NP1974.RA bmnfn2hyeJc23wLAXDH7L2d2MMSEOAyb3hiUB9BlNY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [MiR-137 directly targeted ACT, thereby indicating that ACT and miR-137 play a role in the pathophysiology of HF and reverse remodeling during mechanical support.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23640964
was generated by: ECO_0000203

NP1975.RAUfsJqzSEtpH17I3J zKgBEq-ATayhdTX7CT60PU8XAc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [SERPINA1 and SERPINA3 mRNA expression correlated with chondrogenic differentiation of MSCs and dedifferentiation of chondrocytes, and SERPINA1 protein levels in culture supernatants could be correlated alike.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17604188
was generated by: ECO_0000203

NP1976.RAQm0HKXJFhK4fiDojRbZmA6holV6F0OX81R1SSK7T3G0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Haplotype analysis showed that IL28B (rs12980275, rs11881222, rs12979860 and rs8099917) haplotype AACT had a protective effect for HCV infection (OR = 0.52, 95% CI = 0.33-0.83, P = 0.00551).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24144988
was generated by: ECO_0000203

NP1977.RA3Lwdk46WCmkFKZ6w508ocikLzh08Kg obBVOaNwhHc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha-1 antichymotrypsin gene signal peptide a/t polymorphism and primary intracerebral hemorrhage.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18408372
was generated by: ECO_0000203

NP1978.RAQ DLtTzJJDK-A2zdWUNZqOlSKdOjwgUqdItyNk87z9Q
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Analyses of associations with asthma in four asthma population samples from Canada and Australia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19247692
was generated by: ECO_0000203

NP1979.RAiby-0eraPnGaFeKwi gQeLA6z-ogHRDOKvHNUF9HMHw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We investigated the associations between hypertension status and the genotypes of four single nucleotide polymorphism (SNP) sites in four hypertension-related genes (Angiotensinogen AGT, Angiotensin I Converting Enzyme ACE, Angiotensinogen II receptor, subtype 1 AGTR1, and Alpha 1-Antichymotrypsin ACT or SERPINA3), in an African American sample.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19341158
was generated by: ECO_0000203

NP1980.RANtS5nDCyl6P-dyX5h-Wux0Vqob-itIKOcR8A3eUFlyM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The ACT-TT genotype was obtained in 33% of HS who lacked arterial hypertension (P<0.05).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11692021
was generated by: ECO_0000203

NP1981.RAwUmbYt y8E8D9GzMWajXGs9I40lc2nky4wWwlEjHqyo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha-1 antichymotrypsin gene signal peptide a/t polymorphism and primary intracerebral hemorrhage.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18408372
was generated by: ECO_0000203

NP1982.RA-Rjtu1GPe-KwIPIr3gORS0ZpHbGfp92wwv Jfb5eUSo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A logistic regression model showed that the presence of genotype with T allele (AT+TT; odds ratio [OR], 2.01; 95% CI, 1.19 to 3.38; P=0.009) or AA genotype (OR, 0.49; 95% CI, 0.30 to 0.84; P=0.009) of the SERPINA3 influences the risk for aneurysmal SAH independently from smoking, excessive alcohol consumption, and hypertension.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15718509
was generated by: ECO_0000203

NP1983.RAnXzr81N8DNnYygBf5eqmCq1fZ1cTxB21Y7ysPOobOpo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Anti-inflammatory and antioxidant effects of SERPINA3K in the retina.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: http://identifiers.org/pubmed/19324842
was generated by: ECO_0000218

CTD mouse
imported on: 2017-01-25

DisGeNET evidence - PREDICTED
type: ECO_0000266
comment: Gene-disease associations inferred from animal model manually asserted gene-disease associations.

NP1984.RARK- JnDVwRbEev3HmuFgk58TIWlipaKuP7B3vJRz29s
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19578796
was generated by: ECO_0000203

NP1985.RAHZZxHY4BSDqP1KCL-sBZTqAkzGQOq8Fqsego5lMgBR8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Differential expression of inflammation- and apoptosis-related genes in spinal cords of a mutant SOD1 transgenic mouse model of familial amyotrophic lateral sclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: http://identifiers.org/pubmed/11796754
was generated by: ECO_0000218

NP1986.RA3pwXteN 0CCpe3HBhlKXplNrr4uCfSGP8fb282zHSO8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In picomolar concentrations, TNF mediated reversible, dose- and time-dependent increases in biosynthesis of complement proteins factor B and C3, alpha 1 antichymotrypsin, and decreases in biosynthesis of albumin and transferrin in human hepatoma cell lines (Hep G2, Hep 3B).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/2429991
was generated by: ECO_0000203

NP1987.RAFniX3Qr9bkvSJTXf-JuvfPyup90Cr9eFz2ugjcXGRjI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Nuclear ?1-antichymotrypsin promotes chromatin condensation and inhibits proliferation of human hepatocellular carcinoma cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23295442
was generated by: ECO_0000203

NP1988.RAZAwP0 AViUrZ5z4vqYlrNhXUJbcpN4jQXbfjvK0h 9c
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In our previous work, we dissected the interactome of 14-3-3? formed during the DNA damage response in a hepatocellular carcinoma (HCC) cell using an AACT/SILAC-based quantitative proteomic approach.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24363202
was generated by: ECO_0000203

NP1989.RA2DiWbEiQkwHUCElcTgbzHYJabVhME7jKP sr2UMBDfc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A biological consequence of enhanced secretion of IFN-beta 2/IL-6 was the ability of media from infected FS-4 cell cultures to enhance by 8-15-fold the synthesis and secretion of a typical acute phase plasma protein (alpha 1-antichymotrypsin) by human hepatoma Hep3B2 cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/3133443
was generated by: ECO_0000203

NP1990.RARneFMlQol04ShYwVFVdqognuirLT Vt4OySwM0lQ3Ao
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A toxicogenomic approach to drug-induced phospholipidosis: analysis of its induction mechanism and establishment of a novel in vitro screening system.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/15342952
was generated by: ECO_0000218

NP1991.RAjqSwuDDRNbQI7ootfYxG2QBRqciz2JcOkp2JxJzdEC4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Determination of phospholipidosis potential based on gene expression analysis in HepG2 cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/17175557
was generated by: ECO_0000218

NP1992.RAyM1CJg46DmI2RRcw69UbgTU55 W1PD1BFoVR7Ot0uSo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Improved toxicogenomic screening for drug-induced phospholipidosis using a multiplexed quantitative gene expression ArrayPlate assay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/16919414
was generated by: ECO_0000218

NP1993.RAW09FxWwf-lJ TgwrpPAyr6DNy-fmNv497-XbVnfPaKs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Identification of fibrosis-relevant proteins using DIGE (difference in gel electrophoresis) in different models of hepatic fibrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: http://identifiers.org/pubmed/15650968
was generated by: ECO_0000218

NP1994.RAhplSTOdufP8b-dLXawBtcHaWDcL2akRD42cNDev43s8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Systems level analysis and identification of pathways and networks associated with liver fibrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: http://identifiers.org/pubmed/25380136
was generated by: ECO_0000218

NP1995.RAQS2Ra9rgpP7tEa8gboQ2oJZgAR0iuwOGoLH Tr g TE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Plasma alpha 1-antichymotrypsin in liver disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/3877579
was generated by: ECO_0000203

NP1996.RAUNN28Jgs6X7l2lSRW-xvlAQPKyZnUj1qJ8itgM09AJs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A biological consequence of enhanced secretion of IFN-beta 2/IL-6 was the ability of media from infected FS-4 cell cultures to enhance by 8-15-fold the synthesis and secretion of a typical acute phase plasma protein (alpha 1-antichymotrypsin) by human hepatoma Hep3B2 cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/3133443
was generated by: ECO_0000203

NP1997.RAkiE4Xn38OeAPhAlI4RFiuIS-tGnIcfXEyxn292VBycY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In picomolar concentrations, TNF mediated reversible, dose- and time-dependent increases in biosynthesis of complement proteins factor B and C3, alpha 1 antichymotrypsin, and decreases in biosynthesis of albumin and transferrin in human hepatoma cell lines (Hep G2, Hep 3B).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/2429991
was generated by: ECO_0000203

NP1998.RAv FbqkW3hxjDfA2LHvUkFQg8gWpRCTU7ZVWqAZD8DoI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These data indicate that deficiency of alpha(1)-antichymotrypsin is associated with less severe pulmonary disease in patients with CF, and support our previous observations that mild genetic deficiency of a proteinase inhibitor is associated with an improved outcome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11120905
was generated by: ECO_0000203

NP1999.RAmzWuv3-1thfoKwezoyDPpb1XAJQ048IFEyakp7sd0uw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The most widely recognized candidate gene in COPD is SERPINA1, although it has been suggested that SERPINA3 may also play a role.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16278826
was generated by: ECO_0000203

NP2000.RA766dxNuJhHaunn6L2lUbu7HnXuTnkXRCDdHjyBBTKl4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Review article]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12149538
was generated by: ECO_0000203

NP2001.RA djsBey-dzDsoaopAkvnf3KQgFaMO2WvQi9yZSCD4wI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Association between alpha-1-antichymotrypsin polymorphism and susceptibility to chronic obstructive pulmonary disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10849024
was generated by: ECO_0000203

NP2002.RAW 5XszF6yVJRYtkiMVuoqcRDvuQ8xQQ9BgnpysCwsMg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To identify modifier genes, we performed family-based association analyses for 10 genes previously associated with asthma and/or COPD, including IL10, TNF, GSTP1, NOS1, NOS3, SERPINA3, SERPINE2, SFTPB, TGFB1, and EPHX1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17690329
was generated by: ECO_0000203

NP2003.RAual Dc5yXpcB2ShxDf0iJvIjMPhCr0DXh96MFAyHj10
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We conclude that alpha 1-antitrypsin Taq I polymorphism and alpha 1-antichymotrypsin Thr-15Ala mutation are not major genetic risk factors for the development of obstructive lung disease in Italian patients. The alpha 1-antichymotrypsin rare variants wer]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10542979
was generated by: ECO_0000203

NP2004.RAZKGfkfzOrI3wlU0apv8jo8CZ-6noUw-9uKAUJH3nPTg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These mutations were not detected among 100 healthy control subjects, suggesting a possible pathogenetic role of ACT gene defects in a subset of patients with COPD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8244391
was generated by: ECO_0000203

NP2005.RAe0q9BpGYiGW4FGvhyEcexCGSLiHSte1XtsGvCvb7df4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Based on the protease-antiprotease hypothesis in the pathogenesis of chronic lung diseases, we investigated the influence of Z and S mutations and TaqI-polymorphism of alpha1-antitrypsin gene (PI) and Ala - 15Thr polymorphism in signal peptide of alpha1-antichymotrypsin gene (AACT) in patients with COPD (n = 239), nonobstructive chronic bronchitis (n = 34), brochiectases (n = 33), chronic infant lung disease (n = 151) and cystic fibrosis (n = 57).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15612581
was generated by: ECO_0000203

NP2006.RAYHVrxSVEml-itTdMM8g5AMz3gPJ5lAc-XnfUjPRpziE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha(1)-antichymotrypsin is another important serine proteinase inhibitor that protects the lung against proteolytic attack, and point mutations in the alpha(1)-antichymotrypsin gene that result in plasma deficiency are associated with chronic obstructive pulmonary disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11120905
was generated by: ECO_0000203

NP2007.RAmNMQ-rN8fPBkkZWlLu5qDYOVS3S5YUql0KVNcCx7KWM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Mis-sense mutation of alpha 1-antichymotrypsin gene associated with chronic lung disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/1351206
was generated by: ECO_0000203

NP2008.RAcVTCvHzHqndhKfMsvsDX3gCMI9QEjdAYAO jq8BBAHo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The COPD genetic association compendium: a comprehensive online database of COPD genetic associations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19933216
was generated by: ECO_0000203

NP2009.RAK0s4LprIG4nCF0UbhwQKHyiqzrf1WfDDWVGtz78mFJo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Association between alpha-1-antichymotrypsin polymorphism and susceptibility to chronic obstructive pulmonary disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10849024
was generated by: ECO_0000203

NP2010.RAVTsb2QIf1MC8clKto1K5E8B2C7-6Y4YePvEdEQAyjn4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In particular, this intermediate, along with the latent and polymerized conformations, explains the loss of activity of plasma alpha(1)-antichymotrypsin associated with chronic obstructive pulmonary disease in patients with the Leu-55-Pro mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10618372
was generated by: ECO_0000203

NP2011.RAWvMO0oBOaVP0Hy9rYJoKhBufd-lwlVKIQyL4CLQ4K0A
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The most widely recognized candidate gene in COPD is SERPINA1, although it has been suggested that SERPINA3 may also play a role.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16278826
was generated by: ECO_0000203

NP2012.RAu2hIFUgR5pGjSF7sPUYNI63lD8y7kT2PmWZKrCcef Q
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [IL10 polymorphisms are associated with airflow obstruction in severe alpha1-antitrypsin deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17690329
was generated by: ECO_0000203

NP2013.RAQ6Qrbuh9Msd2xCGdC3VHmkB1IL836HcA8yIwMYkqiQ0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Lack of association of alpha-1 antichymotrypsin gene polymorphism with PR3-ANCA and MPO-ANCA associated vasculitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12685871
was generated by: ECO_0000203

NP2014.RA4Olfc3xf4rq5QNFz47dFs8oosm8r80p6WIOhaNYckj8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We provide evidence that MJD in five pedigrees of Azorean descent is also linked to chromosome 14q in an 18-cM region between the markers D14S67 and AACT (multipoint lod score +7.00 near D14S81).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8023841
was generated by: ECO_0000203

NP2015.RANv6MIUFSvsK8QO67NXjQJQXYLsM1hbQTYsRcbCNZFhc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Samples were taken to assess haemoglobin (Hb) concentration, iron status (ferritin, zinc protoporphyrin, transferrin saturation, and soluble transferrin receptor concentration), haptoglobin concentration, alpha-1-antichymotrypsin (a measure of inflammation), and malaria parasites on blood film.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16637741
was generated by: ECO_0000203

NP2016.RAG4oOJo579m0hPCmly7XhwWydng8D3Dix7svEiBmUIuc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha-1-antichymotrypsin promotes beta-sheet amyloid plaque deposition in a transgenic mouse model of Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11222634
was generated by: ECO_0000203

NP2017.RAhLxM8bzMHHBclix6KDOU4-ceK1r55A Aa1KgSd3Kcug
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Hypotheses are presented regarding the possible causes and significance of amyloid deposits in sporadic inclusion-body myositis and the roles of abnormally accumulated ubiquitin, beta-amyloid protein, beta-amyloid precursor protein, alpha 1-antichymotrypsin, hyperphosphorylated tau, and prion protein in the vacuolated muscle fibers in both sporadic inclusion-body myositis and hereditary inclusion-body myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8117535
was generated by: ECO_0000203

NP2018.RAfEtx3KskfwefyK9uxyJZLKbHig1VRExGgitddF3kjkA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Immunochemical identification of the serine protease inhibitor alpha 1-antichymotrypsin in the brain amyloid deposits of Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/3257719
was generated by: ECO_0000203

NP2019.RA1Mi65tPyer07vD9nm1uaAp swdd39aivdgGP0IClVrU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Proinflammatory cytokines and acute phase proteins, such as alpha(1)-antichymotrypsin, are over expressed in microglia and astrocytes in brain regions with abundant mature amyloid plaques, suggesting a glial cell-led brain acute phase response in the Alzheimer neuropathology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11578771
was generated by: ECO_0000203

NP2020.RAL8bIBixfSWPPnrkKWXew9KUHJ5povWZkWDxEzjHb5Lw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Serine protease inhibitors (serpins) such as alpha 1-antitrypsin and alpha 1-antichymotrypsin have been found to be associated with beta-amyloid deposits; interest in their role in the pathogenesis of AD has therefore recently increased.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8931713
was generated by: ECO_0000203

NP2021.RA f-N -OSFjKnwBdQjjlytySIFiigQWVsKKhDNQflcLY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [ACT gene polymorphism and primary hypertension are both independent risk factors of cerebral hemorrhage. The ACT AT and TT genotypes show a significant gene-environment interaction, however, of different types, with both primary hypertension and diabetes]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12126519
was generated by: ECO_0000203

NP2022.RAbmcKshC7rSFx91N-BAinYTzQV2c67rkeROqVgM6sJvI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [SERPINA3 polymorphism does not have a role in primary intracerebral hemorrhage in a Polish population]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16424370
was generated by: ECO_0000203

NP2023.RAHMvnwF vIfNNMFRj1htsTkK-IIygodIF5RQwOP8b9Ec
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha-1 antichymotrypsin gene signal peptide a/t polymorphism and primary intracerebral hemorrhage.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18408372
was generated by: ECO_0000203

NP2024.RADIff15mHhMjS-0NNFlKXgOyJN9-Q3SLarDWO6vc7Dk8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our study did not show an association between alpha-1 antichymotrypsin signal peptide A/T polymorphism and primary intracerebral hemorrhage.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18408372
was generated by: ECO_0000203

NP2025.RA5eUq97RTTfRJnYCxN-XdBN rpp-nkogFLo9MHVk4yVw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Carriers of the ACT G allele are at risk of developing PCa and genotyping healthy subjects could be a new approach for early prevention.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18383875
was generated by: ECO_0000203

NP2026.RAcV9ixeJYFTuQqjIekDpEF2KOoJb5oo2PnN2-gv0ccNk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Ninety-nine patients with HS, 182 patients with IS (symptomatic control subjects), and 80 asymptomatic control subjects were genotyped for the ACT polymorphism using polymerase chain reaction amplification.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11692021
was generated by: ECO_0000203

NP2027.RAFhqgW74sCJBj8r58BuzQYdtlSzcx9fIQcioO6V7Xxs8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The ACT-TT genotype was more frequent in patients with primary intracerebral hemorrhage than in patients with ischemic stroke (31.6% versus 16.4%, P:<0.05) or in control subjects (21.4%, P:=0.1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10978037
was generated by: ECO_0000203

NP2028.RA3GbkG220HYCQRtiZYrfsasmXXYek7lusfUxWfaMn8E8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A linkage disequilibrium between genes at the serine protease inhibitor gene cluster on chromosome 14q32.1 is associated with Wegener's granulomatosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11161981
was generated by: ECO_0000203

NP2029.RALLexD3kZIQBKFLzaHRO2v9Ht5bKA6SNvTB4nDzktn0s
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We also used the alpha 1-antichymotrypsin/alpha 1-antitrypsin ratio as a tool to identify PiZ carriers (intermediate alpha 1-antitrypsin-deficiency, PiZ).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/3877579
was generated by: ECO_0000203

NP2030.RA6CBa1VVU7boubJhJvt8oDufyNQnrptWU-AqYAmA8b4w
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Cloning of the human alpha 1 antichymotrypsin gene and genetic analysis of the gene in relation to alpha 1 antitrypsin deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/3260956
was generated by: ECO_0000203

NP2031.RALMc-IBN5PHQOXsdq9yGVVGLs5nNgoWe2IDfEcaOPA2w
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Heterozygous alpha 1-antichymotrypsin and PiZ alpha 1-antitrypsin deficiency. Prevalence and clinical spectrum in asthmatic children.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/2327559
was generated by: ECO_0000203

NP2032.RAekCaZNCMQFwSon cWKr5SktdENrPaVXwZgSp4pAR0WY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: ['A subset of AMI in middle age' had numerous proinflammatory alleles (IL6, TNF, SERPINA3, IFNG, HMGCR).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18056971
was generated by: ECO_0000203

NP2033.RAbc0WBOscDr1EYJryZBbhXG9xiIKxnj93wJutao3 k0g
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [acute myocardial infarction from information on functional gene variants that favor inflammation or modulate cholesterol metabolism: IL6 -174 G/C, TNF -308 G/A, IL10 -1082 G/A, SERPINA3 -51 G/T, IFNG +874 T/A, HMGCR -911 C/A, and APOE epsilon2/3/4]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18056971
was generated by: ECO_0000203

NP2034.RAGuIF5b4Qugr5GhjjgVcjsawHra-TsWRgdd8q-0MfaUI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Multivariate analysis showed that ACT mRNA level, but not STC2 mRNA level, in HR-positive patients, was a significant prognostic factor (P = 0.042), which was independent of tumor size and lymph node metastases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15546506
was generated by: ECO_0000203

NP2035.RAK4ukiyZX ZJtLwVLIMmdaerCAU h5wmpvQyXgEnVVVY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The multifactorial genetic dysfunction in AD includes mutational loci (APP, PS1, PS2) and diverse susceptibility loci (APOE, A2M, AACT, LRP1, IL1A, TNF, ACE, BACE, BCHE, CST3, MTHFR, GSK3B, NOS3) distributed across the human genome, probably converging in common pathogenic mechanisms that lead to premature neuronal death.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12452480
was generated by: ECO_0000203

NP2036.RA7QgqTTcyq20ZKjeA4QvUWweGUZuSP7Z3mNWvcPdMSP0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Among these genes, many were observed to be involved in mitochondrial dysfunction and oxidative phosphorylation and 3 extracellular molecules, including periostin, pleiotrophin, and SERPINA3, which might become novel diagnostic and therapeutic targets for HF.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19638707
was generated by: ECO_0000203

NP2037.RA85oGwdSPVU D2WIXlMWE2JC -bpnhdnseDAPzJpMMSw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A 20-year-old woman, admitted to a neurological ward with a diagnosis of benign intracranial hypertension, was found on specific protein electroimmunoassay to have a consistently decreased concentration of alpha 1-antichymotrypsin in her plasma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/3840062
was generated by: ECO_0000203

NP2038.RAU9EgS297XBm5zTdwFDpdZ5G5X7tPGtYXTlxtP-HirKk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Association of osteoarthritis with homozygosity for a 5.8 kb Taq I fragment of the alpha 1-antichymotrypsin gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/1974162
was generated by: ECO_0000203

NP2039.RA0sJ0Cj2-SvbOD3QcFbOyLM9qfYcrRovA NMjqh26aNs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We found that genes previously identified by their association with subclinical features of knee OA or progression were also associated with clinical knee OA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16453284
was generated by: ECO_0000203

NP2040.RA6iu R4VLcj3p-SjFTAblYRYXd0vrY9S7YrA9lxEMkts
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [This study shows that ACT-AA may confer a modest protection against developing early-onset PD in women.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15542006
was generated by: ECO_0000203

NP2041.RAeZ8FZudPoAw zwdikbbbYKDoUPgXs6 3cVD1lnKz4u0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic study of apolipoprotein E gene, alpha-1 antichymotrypsin gene in sporadic Parkinson disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11992569
was generated by: ECO_0000203

NP2042.RAtWfHOG32lrwA3Gs6NF-dj3k7cALybKFphsONn61evXQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We suggest that the ACT polymorphism might play some role in the pathogenesis of PD, especially in the onset.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11385264
was generated by: ECO_0000203

NP2043.RALnDJYh2q87dlSvF3vJPhKScQf14ark966TFYu3C5 xs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha1-antichymotrypsin-AA may confer a modest protection against developing early-onset Parkinson disease in women]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15542006
was generated by: ECO_0000203

NP2044.RA7hqb0YZCjVcEwCsEfxYbxBDsbcYCRbVxKAj7QQdgm18
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The AACT-AA genotype and AACT-AT genotype with ApoE epsilon 4 might be susceptible factors for PD in Shanghai Hans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11769703
was generated by: ECO_0000203

NP2045.RAsFZBATA6qdbUo6R7cP-088ilu-8o5otVteUwLGx50Q4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To evaluate the diagnostic utility of free PSA (fPSA) and complexed PSA forms for identification of men with PCa in the low PSA range of <4 microg/l, total PSA (tPSA), alpha(1)-antichymotrypsin complexed PSA (PSA-ACT) and fPSA (Roche Elecsys [ES] system) as well as tPSA and complexed PSA (cPSA) (Bayer Immuno 1 system) were measured in archival serum samples from 31 untreated patients with PCa, 66 patients with BPH, and 90 men without prostatic disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11477592
was generated by: ECO_0000203

NP2046.RAAVlCnel-4eXP-3573 JDmvEsNbOr14XTdBuGOhnwmC0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha 1 antichymotrypsin genotype is associated with increased risk of prostate carcinoma and PSA levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/18383875
was generated by: ECO_0000218

NP2047.RAr3aySQIBBDaVZxgf327LG5zdFBbPVzxumlzBR9XKIgo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Carriers of the ACT G allele are at risk of developing PCa and genotyping healthy subjects could be a new approach for early prevention.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18383875
was generated by: ECO_0000203

NP2048.RA5QsesCPPA qsH3PmPvxb4iTQFr-aEbAbUveiU9xe-BI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A 20-year-old woman, admitted to a neurological ward with a diagnosis of benign intracranial hypertension, was found on specific protein electroimmunoassay to have a consistently decreased concentration of alpha 1-antichymotrypsin in her plasma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/3840062
was generated by: ECO_0000203

NP2049.RA83hehGX4BCJyRh8gnhh9cdti4SnlLn6qA9fguYkNN-k
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Apolipoprotein E and alpha-1-antichymotrypsin genotypes do not predict time to psychosis in Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11936240
was generated by: ECO_0000203

NP2050.RAT I k1-7iuZ61hYMcnIOjGE SLMok9VeLhKNxefUaFE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Apolipoprotein E and alpha-1-antichymotrypsin genotypes do not predict time to psychosis in Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11936240
was generated by: ECO_0000203

PSYGENET
imported on: 2017-02-19
imported on: 2017-02-21

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has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Loop-sheet polymerization is now recognized to underlie deficiency variants of other members of the serine proteinase inhibitor (serpin) superfamily, i.e. antithrombin, C1 esterase inhibitor and alpha(1)-antichymotrypsin, which are associated with thrombosis, angio-oedema and emphysema respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12023831
was generated by: ECO_0000203

NP2052.RAr7Ha8fEc3J67xwrBQLH6YQvhDWT9ZV16GB5tHIzTEws
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Point mutations of antithrombin, C1 inhibitor, alpha(1)-antichymotrypsin, and heparin cofactor II cause a similar conformational transition, resulting in a plasma deficiency that is associated with thrombosis, angioedema, and emphysema.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19245336
was generated by: ECO_0000203

NP2053.RAUxRntWSLgC3FjdO1Wmgyhlk0ydSQAQKRrNFDCTLVJPw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The consequent lack of plasma antithrombin, C1-inhibitor and alpha(1)-antichymotrypsin results in thrombosis, angio-oedema and emphysema, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/14694355
was generated by: ECO_0000203

NP2054.RA6POCTmMvYSK aFhA3FE5wj6Dcqy4c9jY7WmLTplFsYA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Analyses of associations with asthma in four asthma population samples from Canada and Australia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19247692
was generated by: ECO_0000203

NP2055.RAiicjRCZcY6xWZNQNgmG1IhlI95nLDu3if5Shc8lfXGk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Chromosome 14 screening and transmission disequilibrium testing on the gene encoding ACT suggest that it or a closely located gene may be involved in susceptibility to allergic asthma in the Italian population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11295654
was generated by: ECO_0000203

NP2056.RA7oxc8RIWATOOi2dl8i3f5rCzyLdA3n3UP0lCoSNWh18
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Among heterozygotes, the prevalence of asthma in first and second degree relatives with low plasma alpha 1-antichymotrypsin concentration was higher than in relatives with normal plasma ACT concentration, but the difference in prevalence did not reach statistical significance [prevalence ratio 3.1 (0.96-9.83), P = 0.059].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/2299303
was generated by: ECO_0000203

NP2057.RA4sp5jD6D3062Rx4RHknuY3psRWzOZK6id3ACUMDT6yo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Heterozygous alpha 1-antichymotrypsin and PiZ alpha 1-antitrypsin deficiency. Prevalence and clinical spectrum in asthmatic children.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/2327559
was generated by: ECO_0000203

NP2058.RAu9LCLkbbS3wUmBpi8TpvEp WpvUDOsCJgt7fRmn WuE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Modest evidence for association with asthma was observed for 2 CNVs near NOS1 and SERPINA3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23517041
was generated by: ECO_0000203

NP2059.RAF-diUtO9f1VljmYj3i7zG d42jtPyflRrDgkcYYRg3Y
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Anti-inflammatory and antioxidant effects of SERPINA3K in the retina.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: http://identifiers.org/pubmed/19324842
was generated by: ECO_0000218

NP2060.RASKpCCZePtAVywhqjFk43Bu LMiDfCPLZWNq8aAxZpCs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19165527
was generated by: ECO_0000203

NP2061.RA7X1iNJr4aANAP1JPn-DZWMyuit--cvFSjFyR1jAQM M
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Gene expression disturbances in the brain of subjects with schizophrenia show complex, region-specific changes with consistently replicated and potentially interdependent induction of serpin peptidase inhibitor, clade A member 3 (SERPINA3) and interferon inducible transmembrane protein (IFITM) family transcripts in the prefrontal cortex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23890736
was generated by: ECO_0000203

NP2062.RAfmCjhHTkNr ufcDbzC715OuF3RAPAme6cFTbY2ArhE8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha-1-antichymotrypsin gene polymorphism and susceptibility to multiple system atrophy (MSA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15907346
was generated by: ECO_0000203

NP2063.RA4jKPgU0Cp3YG2P7uGasDKt0fjRIpUGImczbUyhIZf6I
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [alpha(1)-antichymotrypsin polymorphism: a risk factor for hemorrhagic stroke in normotensive subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11692021
was generated by: ECO_0000203

NP2064.RAmnFdVHhBa1pVwV oWpIy8omIoN0rK6-ADdazPFLcUa0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha(1)-antichymotrypsin gene polymorphism in patients with stroke.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10978037
was generated by: ECO_0000203

NP2065.RATHdz2BV-Wc1klDQRshnjUJPKLbAXgphfczzjIr pBUo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Post-stroke dementia is associated with alpha(1)-antichymotrypsin polymorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15935385
was generated by: ECO_0000203

NP2066.RAkaI9EDSviRVrI7NMDPEIbG6vNu-30UjPhY6DkJmiIXQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our data suggests a genetic contribution to some types of haemorrhagic stroke, with no overall responsible single gene but rather supporting a polygenic aetiology .]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19008959
was generated by: ECO_0000203

NP2067.RAtmA1GzXKcCgHIlJmOwyPbkP8KjA7NF8eo7nQs 3Ay8c
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [alpha (1) -antichymotrypsin polymorphism: a risk factor for hemorrhagic stroke in normotensive subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11692021
was generated by: ECO_0000203

NP2068.RAjGVmYlRWMZCLMm315ckcvx-OmLGbaUZdmBPWVJzPjq0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our data suggests a genetic contribution to some types of haemorrhagic stroke, with no overall responsible single gene but rather supporting a polygenic aetiology .]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19008959
was generated by: ECO_0000203

NP2069.RA441PNFQTbuFD1wD9-6m1GoDrLsz056Yq7N58X16vWrQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha1-antichymotrypsin gene (SERPINA3) A/T polymorphism as a risk factor for aneurysmal subarachnoid hemorrhage.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15718509
was generated by: ECO_0000203

NP2070.RAEpTLPMbwrqGIDhdslK01JDWQLiBaAteYL9GOfd3h0D8
has assertion: assertion
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has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Serine protease inhibitor member 3 of clade A (SERPINA3) has been shown as a risk factor for aneurysmal subarachnoid hemorrhage in a Polish population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19907165
was generated by: ECO_0000203

NP2071.RAGSKYmlHQnu5ye8Khy68dZ9PMv4B1QJEFU9YDBTIejdI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In the Japanese population the A15T polymorphism of the SERPINA3 gene is not associated with aneurysmal SAH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16968986
was generated by: ECO_0000203

NP2072.RAferGlw0VuXuKnFM34fKJxsZLXPL N26wm2FjBMWQEvo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha1-antichymotrypsin gene (SERPINA3) A/T polymorphism as a risk factor for aneurysmal subarachnoid hemorrhage.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15718509
was generated by: ECO_0000203

NP2073.RAk9PjLJnnndLrFWmHr7bJm2T5rQ1HU5ZYuRkL0zIf5YM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [the A/T polymorphism of SERPINA3 gene is associated with the risk factor for aneurysmal subarachnoid hemorrhage]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15718509
was generated by: ECO_0000203

NP2074.RAH2vr461X2yhDBWI CbBslQoM yC7LQd-eiBnBqjN0n8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Immunocytochemical staining with antiserum raised against the synthetic APP, beta-A4 and alpha 1-antichymotrypsin revealed numerous densely stained cells within hippocampal grafts of Trisomy 16 mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/1899372
was generated by: ECO_0000203

NP2075.RA7bs7wu2SDlH-mLmJQw81z9IjlC0wNkF4TM4kUwZiGUc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Pathological studies will be required to establish whether the ACT-TT genotype facilitates proteolytic rupture of vessels that harbor amyloidotic changes or another form of nonhypertensive cerebral angiopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11692021
was generated by: ECO_0000203

NP2076.RAiC2IqlNpzp7FzRj-IibYHouLGu4LHz9RBtfHGHXHVDU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To analyse, if an AACT gene polymorphism within the signal peptide sequence is associatedwith antineutrophil cytoplasm autoantibodies (ANCA) vasculitis allelic frequencies of AACT polymorphism were analysed in 128 control persons, 79 PR3-ANCA, and 30 MPO-ANCA patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12685871
was generated by: ECO_0000203

NP2077.RAwiT0W1IP6jHSU5yMWbLDZcJApHtc2f3ob5P3Mft3Cqw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Analyses of associations with asthma in four asthma population samples from Canada and Australia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19247692
was generated by: ECO_0000203

NP2078.RAIjj3AehEYNTIXRfu5mHST0MkvTQENI1q-CP4ofeIQ0Q
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Increased frequency of the alpha-1-antichymotrypsin T allele in cerebral amyloid angiopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11132933
was generated by: ECO_0000203

NP2079.RAYOf6d6g4C-iEiR0ierRpm YChe4nzWer5z0xtSe6LUs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Serine protease inhibitor member 3 of clade A (SERPINA3), also known as alpha-1-antichymotrypsin, inhibits the activity of cathepsin G. The release of neutrophil cathepsin G (proteolytic enzyme) can destroy the vascular matrix through degradation, platelet aggregation and coagulation disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16968986
was generated by: ECO_0000203

NP2080.RAU98QeGwZ Jj--dLk flmRMy-vnOA9pAZziZODNqXS A
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The novel biomarker panel obtained by combining ?-1-antichymotrypsin (AACT), Thrombospondin-1 (THBS1) and this variant peptide showed an excellent diagnostic performance in discriminating pancreatic cancer from healthy controls (AUC = 0.98) and chronic pancreatitis (AUC = 0.90).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25393578
was generated by: ECO_0000203

NP2081.RAyISQzGvYfgNzlt6Fib8suQGYKcdSB9ZiCVm6EXkfJ0U
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha-1 antichymotrypsin gene signal peptide a/t polymorphism and primary intracerebral hemorrhage.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18408372
was generated by: ECO_0000203

NP2082.RAhjKZEUj1QaNkk 88b9XsAApTCrTVPM rVWCRZXmBpkc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Patients with cholinergic urticaria also showed a reduction of alpha 1 antichymotrypsin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/6968579
was generated by: ECO_0000203

NP2083.RAXYh11JLTKdmlXtvTL7HGMLCyf2c7nRFz3gIidSjwciM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [mRNA expression level of estrogen-inducible gene, alpha 1-antichymotrypsin, is a predictor of early tumor recurrence in patients with invasive breast cancers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15546506
was generated by: ECO_0000203

NP2084.RAXYhMER9fzK9k6Ar7aoNJ79CKQi6yjFU3SEDNnn3lx3Y
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We identified four genetic risk sets for acute myocardial infarction (AMI) from information on functional gene variants that favor inflammation or modulate cholesterol metabolism: IL6 -174 G/C, TNF -308 G/A, IL10 -1082 G/A, SERPINA3 -51 G/T, IFNG +874 T/A, HMGCR -911 C/A, and APOE epsilon2/3/4; 316 patients and 461 healthy subjects, all Italian.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18056971
was generated by: ECO_0000203

NP2085.RAP6Y1ArgymelqarN9wTg xKz- 56s6LXoNZ6pmomeO6w
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Chromosome 14 screening and transmission disequilibrium testing on the gene encoding ACT suggest that it or a closely located gene may be involved in susceptibility to allergic asthma in the Italian population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11295654
was generated by: ECO_0000203

NP2086.RAQ4uvWc2cmORZWKbg8017JEWSVid0SmaC 3udTOiih o
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Therefore measurement of urinary alpha(1)-ACT levels may be useful for monitoring the efficacy of therapeutic regimens for prion disease, and possibly also for deferring blood and organ donors that may be at risk of transmitting prion infections.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19057641
was generated by: ECO_0000203

NP2087.RAH1GqAgiSGFhOKEWU PslE3wabISWiMw-72WbtdiHses
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our data suggests a genetic contribution to some types of haemorrhagic stroke, with no overall responsible single gene but rather supporting a polygenic aetiology .]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19008959
was generated by: ECO_0000203

NP2088.RAV1zhV81THS-hcSu yRfK4-T5kJObWb2GUJEJUdd9yHs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In cold urticaria there was a significant lowering of alpha 1 antichymotrypsin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/6968579
was generated by: ECO_0000203

NP2089.RAgx9wrxJMX5iTuRArs2c4rSok6fhuDO zpNzqPf9MCec
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We also used the alpha 1-antichymotrypsin/alpha 1-antitrypsin ratio as a tool to identify PiZ carriers (intermediate alpha 1-antitrypsin-deficiency, PiZ).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/3877579
was generated by: ECO_0000203

NP2090.RA-4yHEweHsgGT22jT-y7lw2GnBao4jMh8on8tJtx0bPs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Heterozygous alpha 1-antichymotrypsin and PiZ alpha 1-antitrypsin deficiency. Prevalence and clinical spectrum in asthmatic children.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/2327559
was generated by: ECO_0000203

NP2091.RAwkKI1ZBl hBspzzNDpUU3XATSKdpSyASfLXiq6QKJhs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [IL10 polymorphisms are associated with airflow obstruction in severe alpha1-antitrypsin deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17690329
was generated by: ECO_0000203

NP2092.RAZwkN1E5rKnJc575H6PiV3ba7dIXJYzaAU4FGIxNVbLs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Cloning of the human alpha 1 antichymotrypsin gene and genetic analysis of the gene in relation to alpha 1 antitrypsin deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/3260956
was generated by: ECO_0000203

NP2093.RAB 7AYSQO4UUHxTvm6xmM046QuogvEsfQLEzRANNlrRw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A linkage disequilibrium between genes at the serine protease inhibitor gene cluster on chromosome 14q32.1 is associated with Wegener's granulomatosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11161981
was generated by: ECO_0000203

NP2094.RA tewO3F-ospXBW9g1pan8EedjaCGxYcDZITMtJHh01Y
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The novel biomarker panel obtained by combining ?-1-antichymotrypsin (AACT), Thrombospondin-1 (THBS1) and this variant peptide showed an excellent diagnostic performance in discriminating pancreatic cancer from healthy controls (AUC = 0.98) and chronic pancreatitis (AUC = 0.90).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25393578
was generated by: ECO_0000203

NP2095.RA8ZQmFCKWA7LKurFXMqVXEcteeCC3dowf0nu8E6IqHJI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our data suggests a genetic contribution to some types of haemorrhagic stroke, with no overall responsible single gene but rather supporting a polygenic aetiology .]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19008959
was generated by: ECO_0000203

NP2096.RA3i8u5n01xxAY2i1yvTvTG086vfQiQWXWCEOYCjidtLo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Polymorphism rs4934 of SERPINA3 and sporadic intracranial aneurysms in the Chinese population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19907165
was generated by: ECO_0000203

NP2097.RA1HdCwrOnboCrqcv-f67WlEfW Y9l3-Z5aRgQzG8G0yc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The alanine/threonine polymorphism of the alpha-1-antichymotrypsin (SERPINA3) gene and ruptured intracranial aneurysms in the Japanese population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16968986
was generated by: ECO_0000203

NP2098.RA7L7qg9 5wosE9qKJqO70aAs3dt0FHIqp8Vzv18MF6k8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Detection of a new mutant alpha-1-antichymotrypsin in patients with occlusive-cerebrovascular disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/1618300
was generated by: ECO_0000203

NP2099.RAFVEts9941M2A2EAaJmioSE7vLOLEjdMMLJaY1N-0naA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These results suggest that ACT lsehara-1 is a new genetic risk factor for ischemic CVD, especially lacunar-type infarction, in Japan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11289720
was generated by: ECO_0000203

NP2100.RArSuu-1u2 pTMxF4fJBmvUVcuC8ya9frGsbtJnEoWTbk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Two hundred twenty patients with acute ischemic stroke (n=182) and primary intracerebral hemorrhage (n=38) and 70 control subjects without clinical cerebrovascular disease were genotyped for the ACT polymorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10978037
was generated by: ECO_0000203

NP2101.RAWt3VEBW6eMpyaFty7TiQuNmWA2H WDjPtXMxE5Uu4OE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Lung cancer susceptibility model based on age, family history and genetic variants.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19390575
was generated by: ECO_0000203

NP2102.RAaCyEa5BXTXiOWUcUyu7II-IiJupLV5f1WOdoVHon2aI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18842294
was generated by: ECO_0000203

NP2103.RA4NgLKUBrxwZqhuK45SOWbd8qy4ooSZFKonRuNb4WD0g
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The expression pattern of CD55 and SERPINA3 in cholera toxin (CT)-stimulated Caco-2 cells was the same as the pattern found in the intestinal mucosa during acute cholera, indicating that the activation of the CD55 and SERPINA3 genes in intestinal epithelium was induced by CT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17307946
was generated by: ECO_0000203

NP2104.RAJ5gJRHSItXy1AL7a6MgnzqaIwuS6m6cZ0rb1e1dVOWw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Also, the AACT haplotype bearing the -160A allele was significantly associated with PCA in European Americans (P = 0.04).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16372334
was generated by: ECO_0000203

NP2105.RA-c7C97D8ZwpMFKk1kxb35sBo17prhHTQA5Gx Xtvnvo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [No association between alpha 1-antichymotrypsin and familial Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8993482
was generated by: ECO_0000203

NP2106.RAHf8ZHK08MDpBOWw0shhqSivAWdFap3OSMiKjP4RxIbc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Elevated expression of SerpinA1 and SerpinA3 in HLA-positive cervical carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18438953
was generated by: ECO_0000203

NP2107.RATPLmm1K8YvI1i260EPlFUIy1qfRyFz-4fMO4BvVF8EA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha1-antichymotrypsin (ACT: new identification SERPINA3) is a member of the serine proteinase inhibitor (serpin) gene family and biochemically has been shown to be a constituent of the senile plaques of Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11702211
was generated by: ECO_0000203

NP2108.RAu6fGZb1G83SFAPwK7JaPVIsRtSSTyzPUwJi-yoqKuRM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Proinflammatory cytokines and acute phase proteins, such as alpha(1)-antichymotrypsin, are over expressed in microglia and astrocytes in brain regions with abundant mature amyloid plaques, suggesting a glial cell-led brain acute phase response in the Alzheimer neuropathology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11578771
was generated by: ECO_0000203

NP2109.RAbCZJ-a0LTVUsEuatQso9VQD04NRo vbDP32ZicvQ71Q
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [alpha-1-Antichymotrypsin (ACT) is present in neuritic plaques in which it participates in the inflammatory cascade of Alzheimer's disease (AD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12509851
was generated by: ECO_0000203

NP2110.RAsFmTB0kjCMX9lKwjdOYiT3zKzfmkbyDC6Xq2zUyqt-o
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha-1-antichymotrypsin promotes beta-sheet amyloid plaque deposition in a transgenic mouse model of Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11222634
was generated by: ECO_0000203

NP2111.RAQTAbCAZj5qGkTbPApwsaPvPp89VDQPkZiAOZ0dEUGnA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The tumor cells showed immunoreactivity for vimentin and alpha-1-antichymotrypsin, and were positive for acid phosphatase and non-specific esterase, being compatible with MFH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10536176
was generated by: ECO_0000203

NP2112.RAE-DRSm0l9ySNiu5Mo6Zexh3vSWKJkr eQs5PjnCTPn0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These data indicate that deficiency of alpha(1)-antichymotrypsin is associated with less severe pulmonary disease in patients with CF, and support our previous observations that mild genetic deficiency of a proteinase inhibitor is associated with an improved outcome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11120905
was generated by: ECO_0000203

NP2113.RAoYr4Lu6oVCgQmjFw1RCu3eD8WiPXI5G-PFq0TRr3LgA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Recent reports suggest that the T allele of a G/T polymorphism at position -51 of ACT is associated with cognitive decline in AD patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15530656
was generated by: ECO_0000203

NP2114.RAhCZUatLh1lwPCQzhDNPXn1FZ4S 3f0AYyyjMOZQcCf8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [After manifestation of the disease the ACT TT genotype was also associated with faster cognitive decline in patients with the APOE allele epsilon 4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15653173
was generated by: ECO_0000203

NP2115.RAgPR7RUOKx9ZWwzMTnSarOienelALyLd9CmtMO7uF9wo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To assess whether serum levels of the inflammatory proteins alpha(1)-antichymotrypsin (ACT), C-reactive protein (CRP), interleukin-6 (IL-6), and albumin are associated with cognitive decline in older persons.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15851726
was generated by: ECO_0000203

NP2116.RAtKyKsyfiTO oGsNNz1MDK yEgrph6GnqitbR6hha F0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Absence of the A1252G mutation in alpha 1-antichymotrypsin in a North American population suffering from dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9040504
was generated by: ECO_0000203

NP2117.RA4V9Vkn0LbmPpWdTy3fvSY9FOVN7AcK0ExlhL7D4RMN0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [ACT has been shown to promote Abeta polymerization in vitro and in vivo, and levels of ACT protein in plasma and cerebrospinal fluid from Alzheimer's patients have been found to correlate with progression of dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16987932
was generated by: ECO_0000203

NP2118.RApy J723DVkGqvogl8yTl5GXl8e u7CXW7a3kELzUQ9I
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our results demonstrate that peripheral ACT levels are elevated in AD, but not in dementias other than AD, and they increase with progression of AD dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12509851
was generated by: ECO_0000203

NP2119.RAXAmtk1Djt6nAeU8Rv1MWMSsQ4tTrTsm Z9wXX 7mfVg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Plasma ACT might be used as a surrogate marker to monitor the conversion of pre-dementia stages to AD and the progression of the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18991685
was generated by: ECO_0000203

NP2120.RAGk1pbEcEdhAlU1V8laDt pK0bopqX0 4OAjJbmuWjFs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Apolipoprotein E and intronic polymorphism of presenilin 1 and alpha-1-antichymotrypsin in Alzheimer's disease and vascular dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10940674
was generated by: ECO_0000203

NP2121.RAKgQhYliohh0TZD2lUJDN5akXyV ijBx60NKtdDn3lX4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The novel biomarker panel obtained by combining ?-1-antichymotrypsin (AACT), Thrombospondin-1 (THBS1) and this variant peptide showed an excellent diagnostic performance in discriminating pancreatic cancer from healthy controls (AUC = 0.98) and chronic pancreatitis (AUC = 0.90).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25393578
was generated by: ECO_0000203

NP2122.RAFCwVMcAoXdUgFuVgnIBjQs2JVCDBDgpqSLwGIoCsJL0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Apolipoprotein E and alpha-1-antichymotrypsin genotypes do not predict time to psychosis in Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11936240
was generated by: ECO_0000203

NP2123.RAuHc2CcvciRGITl UUWTmxqYeOyXis8ZZNdIJAGppA0w
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Apolipoprotein E and alpha-1-antichymotrypsin genotypes do not predict time to psychosis in Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11936240
was generated by: ECO_0000203

NP2124.RAQW-ZDDqMunOUURD6q9rPflgL3j YGIHaWuiA9B7b7Qo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [An in vitro assay revealed that the human homologue SERPINA3 increased the transendothelial permeability of retinal microvascular endothelial cells, which may be involved in the pathogenesis of diabetes and/or diabetic retinopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23545169
was generated by: ECO_0000203

NP2125.RAjFsujT9G0zoL4PNt95UrtzG5xfte04Kos2IreZ3YA9M
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha-1 antichymotrypsin gene signal peptide a/t polymorphism and primary intracerebral hemorrhage.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18408372
was generated by: ECO_0000203

NP2126.RAabXaFWX9Fyd1E2g1p3LTItMxb77hdzQ8FbcX1oyjz2A
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [An in vitro assay revealed that the human homologue SERPINA3 increased the transendothelial permeability of retinal microvascular endothelial cells, which may be involved in the pathogenesis of diabetes and/or diabetic retinopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23545169
was generated by: ECO_0000203

NP2127.RAWp7mZ2SFluEvmFjGQR0wArcZaUyZ6I0obdituKdRYb4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To evaluate the diagnostic utility of free PSA (fPSA) and complexed PSA forms for identification of men with PCa in the low PSA range of <4 microg/l, total PSA (tPSA), alpha(1)-antichymotrypsin complexed PSA (PSA-ACT) and fPSA (Roche Elecsys [ES] system) as well as tPSA and complexed PSA (cPSA) (Bayer Immuno 1 system) were measured in archival serum samples from 31 untreated patients with PCa, 66 patients with BPH, and 90 men without prostatic disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11477592
was generated by: ECO_0000203

NP2128.RAxCJMGCmRBsMshduNbK-3Rt3PZxqefySRK5d2Kx6C0II
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our objective was to investigate the presence of prostate specific antigen (PSA) and alpha-1-antichymotrypsin (ACT) mRNA and protein in prostate cancer cell lines, and the complexing characteristics of expressed PSA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9568677
was generated by: ECO_0000203

NP2129.RAifx5lACwKnJ5y92wTC6QTgK41bsbCl4j3GpH1YEEHYs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [An in vitro assay revealed that the human homologue SERPINA3 increased the transendothelial permeability of retinal microvascular endothelial cells, which may be involved in the pathogenesis of diabetes and/or diabetic retinopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23545169
was generated by: ECO_0000203

NP2130.RAkoq8t hiJxpv- Nuu00jjVHlGx-hX4M2719rrmZ6NH8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Anti-inflammatory and antioxidant effects of SERPINA3K in the retina.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: http://identifiers.org/pubmed/19324842
was generated by: ECO_0000218

NP2131.RAiTS98zux1xvw4Xmauc-eMbbp9s2eDbmKFQV2KVLThp8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha-1-antichymotrypsin gene polymorphism and susceptibility to multiple system atrophy (MSA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15907346
was generated by: ECO_0000203

NP2132.RA7pfTS-WbuUjK8BbPRTt6h3FUf-v6-VmWxPoHlmU9Oho
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: pubmed
was generated by: ECO_0000218

ORPHANET
imported on: 2017-01-25

NP2133.RAq5QMG7kDyOvBv959vgV2v8L1mFK-vCoy9EhjtdujLZw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [alpha 1-Antichymotrypsin as a risk modifier for late-onset Alzheimer's disease in Japanese apolipoprotein E epsilon 4 allele carriers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9225693
was generated by: ECO_0000203

NP2134.RA5FsnB6P4jr8ljAiVof4NLuHYFaUVNZPU7BGtHbjyoBM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our results demonstrate that peripheral ACT levels are elevated in AD, but not in dementias other than AD, and they increase with progression of AD dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12509851
was generated by: ECO_0000203

NP2135.RAFJ04nW1TiWHNEqX7GTjmXSiV Ts T5buo8be7wKEPQ8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Absence of the A1252G mutation in alpha 1-antichymotrypsin in a North American population suffering from dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9040504
was generated by: ECO_0000203

NP2136.RA8Aar6KocNGM8KLhGW09bge78uMfs3jO Ri1t28UwWaQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Plasma ACT might be used as a surrogate marker to monitor the conversion of pre-dementia stages to AD and the progression of the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18991685
was generated by: ECO_0000203

NP2137.RAs-mB1nzm1BB3l6veYsQoSSNhIksoIKM3YE1Q4D cq2s
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Post-stroke dementia is associated with alpha(1)-antichymotrypsin polymorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15935385
was generated by: ECO_0000203

NP2138.RAE9iXDPytB6EkDuD2GjTXGGXdp Y9ZGB5K3YPADkffmk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [ACT has been shown to promote Abeta polymerization in vitro and in vivo, and levels of ACT protein in plasma and cerebrospinal fluid from Alzheimer's patients have been found to correlate with progression of dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16987932
was generated by: ECO_0000203

NP2139.RALtgM3hUt1XyabLfMBqGFadJC6wc-jxFA47g2tWWo-sU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [This study findings suggest that ACT polymorphism (A/T) is a risk factor for post-stroke dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15935385
was generated by: ECO_0000203

NP2140.RAC0xx0PsYEsObKbfYMV6hAJCAo7V5 w8A9dduXHwBoXo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A small subgroup with low alpha 1-antichymotrypsin/alpha 1-antitrypsin ratio included patients with chronic active hepatitis of unknown etiology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/3877579
was generated by: ECO_0000203

NP2141.RAxnlAwu6G0TvHt82Ji8gTIo pOt X3QAV-RvdpcM3Ook
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [mRNA expression level of estrogen-inducible gene, alpha 1-antichymotrypsin, is a predictor of early tumor recurrence in patients with invasive breast cancers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15546506
was generated by: ECO_0000203

NP2142.RA9oOdDbpHEm1iNInlSnDRJrjzsxqEL3YFvqyLETcsMio
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These findings indicate that inappropriate inflammatory responses are a potential threat to the brain and that intervention directed at inhibiting the expression or function of ACT could be of therapeutic value in neurodegenerative diseases such as Alzheimer's and other tauopathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16987932
was generated by: ECO_0000203

NP2143.RAeafbj70AkJ76bsD9YrVDqpIqJVjqfK5l6LIzhYfFHMg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These findings confirm in a larger series of patients the association between the ACT-TT genotype and HS. This polymorphism is more prevalent in normotensive bleedings. Pathological studies will be required to establish whether the ACT-TT genotype facili]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11692021
was generated by: ECO_0000203

NP2144.RAPyKn2OzxryTvnZ0P1qDP01YD1f1HAzX8Mx3WUUV9bSk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To evaluate the diagnostic utility of free PSA (fPSA) and complexed PSA forms for identification of men with PCa in the low PSA range of <4 microg/l, total PSA (tPSA), alpha(1)-antichymotrypsin complexed PSA (PSA-ACT) and fPSA (Roche Elecsys [ES] system) as well as tPSA and complexed PSA (cPSA) (Bayer Immuno 1 system) were measured in archival serum samples from 31 untreated patients with PCa, 66 patients with BPH, and 90 men without prostatic disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11477592
was generated by: ECO_0000203

NP2145.RAQa6mIgJAGcpMYDGpqL75NvjpTr8uWls6R5OEocSAl80
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our objective was to investigate the presence of prostate specific antigen (PSA) and alpha-1-antichymotrypsin (ACT) mRNA and protein in prostate cancer cell lines, and the complexing characteristics of expressed PSA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9568677
was generated by: ECO_0000203

NP2146.RAXIJkdP3pcsFyVenFFqH-7izoPTt5WDTJf6usbQWcKDo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [alpha 1-antitrypsin TAQ I polymorphism and alpha 1-antichymotrypsin mutations in patients with obstructive pulmonary disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10542979
was generated by: ECO_0000203

NP2147.RAQFRacjT8U-W6SvRCGQ8R3gaNcf44OcNL0scp6NNGM34
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The results showed that the mutant homozygous genotype AA of CHI3L1 SNP rs6691378 and AA of rs10399805, and haplotypes AACC and AACT increased the risk of developing pre-cancerous lesions and invasive cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25203433
was generated by: ECO_0000203

NP2148.RA9FK9TcTycotSox4LNP0aHZJRunZDJrW9VrcQ6uXhepc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Apolipoprotein E and alpha-1-antichymotrypsin polymorphisms in sporadic inclusion body myositis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15159602
was generated by: ECO_0000203

NP2149.RA6bscH1GueeIHTfmMlV7fmGC5z5wlgr2tfAOZ50yCXSI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Hypotheses are presented regarding the possible causes and significance of amyloid deposits in sporadic inclusion-body myositis and the roles of abnormally accumulated ubiquitin, beta-amyloid protein, beta-amyloid precursor protein, alpha 1-antichymotrypsin, hyperphosphorylated tau, and prion protein in the vacuolated muscle fibers in both sporadic inclusion-body myositis and hereditary inclusion-body myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8117535
was generated by: ECO_0000203

NP2150.RAHPAd c y2kNLcaLAnzWnneUrJaBciUyp9mBqTEhTM6s
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Apolipoprotein E and alpha-1 antichymotrypsin polymorphism genotyping in Alzheimer's disease and in dementia with Lewy bodies. Distinctions between diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9484359
was generated by: ECO_0000203

NP2151.RA49e4VKbE eX5SiHhCshqDmZPxIJOkyDQb2dGhez6DAo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Using rocket immunoelectrophoresis, ELISA, and Luminex xMAP technology, we analyzed plasma levels of alpha(1)-antichymotrypsin and alpha(1)-antitrypsin, and CSF levels of alpha(1)-antichymotrypsin, alpha(1)-antitrypsin, and neuroserpin along with three standard biomarkers (total tau, tau phosphorylated at threonine-181, and the A beta(1-42)) in patients with AD (n = 258), patients with dementia with Lewy bodies (DLB; n = 38), and age-matched controls (n = 37).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17761554
was generated by: ECO_0000203

NP2152.RAPkgoPctgMJRQ7hA9Wm5Q1Mh4HlxuSkhUwhuqk96RAGI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [PSA in the ovarian tumor was present as free, M(r) 33,000 protein (> 90%) and as PSA bound to alpha 1-antichymotrypsin (M(r) 100,000; < 10%).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/7536128
was generated by: ECO_0000203

NP2153.RAfjXMNtXEh2xbS3leoVH9s2eqYXKQ16tj960CRJWR1ig
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Ninety-nine patients with HS, 182 patients with IS (symptomatic control subjects), and 80 asymptomatic control subjects were genotyped for the ACT polymorphism using polymerase chain reaction amplification.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11692021
was generated by: ECO_0000203

NP2154.RAoSjVVW1vvOS0u4WqFy8ijC koPZYEqeCow4FXsTmN8k
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The ACT-TT genotype was more frequent in patients with primary intracerebral hemorrhage than in patients with ischemic stroke (31.6% versus 16.4%, P:<0.05) or in control subjects (21.4%, P:=0.1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10978037
was generated by: ECO_0000203

NP2155.RA-aK27 1MGSAD08f5p4W4j Xkop3DPmtKfCDj uqskMo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These findings indicate that inappropriate inflammatory responses are a potential threat to the brain and that intervention directed at inhibiting the expression or function of ACT could be of therapeutic value in neurodegenerative diseases such as Alzheimer's and other tauopathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16987932
was generated by: ECO_0000203

NP2156.RAzq0Ax9P7-cHDJlstHJzfCNWIZsCUJ2jcplu5-fO2KzA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Postural changes in blood pressure associated with interactions between candidate genes for chronic respiratory diseases and exposure to particulate matter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19590686
was generated by: ECO_0000203

NP2157.RAQYiaRFRYR7Xs1T0yeQMPoDjkWiIvULzpo7YCJz-R4A0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Postural changes in blood pressure associated with interactions between candidate genes for chronic respiratory diseases and exposure to particulate matter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19590686
was generated by: ECO_0000203

NP2158.RAcEdNCKnEojexp7NcJMI4oOLbo95-sNupH7TuF7-sWl4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We could not demonstrate an effect of ACT polymorphisms as a independent risk factor for this disease; however, the ACT/AA genotype seems to act as an additional susceptibility factor, duplicating the APOE*epsilon4-associated AD risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15482730
was generated by: ECO_0000203

NP2159.RArQURnTNRvyP9bzq-WgiDvlVDZqSdtNNbeeZF2fedKA8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [An association study of polymorphisms in the alpha-antichymotrypsin gene for Alzheimer disease in Han-Chinese.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10980547
was generated by: ECO_0000203

NP2160.RAfl3Kjw6 awtcJltT2gfzfY0PcIJZ8h9S-5L04y8iEb4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The present results suggest that future association studies should be performed using a battery of polymorphisms in different and new candidate genes, taking into account the linkage disequilibrium in the region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12782964
was generated by: ECO_0000203

NP2161.RAHilqkcAfpHxzcrtPZ2ZawDmRarWBcZENLicUoWzKYnI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our data extend previous reports regarding the inflammatory markers in the plasma and CSF of patients with AD and provide good evidence that levels of ACT, IL-6, MCP-1 and oxLDL in plasma and CSF might be candidates as biomarkers for monitoring the inflammatory process in AD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12826739
was generated by: ECO_0000203

NP2162.RALq7q dRYw6Q7qnCdNm PxVaKckfYoPDzpNrtIZS0T34
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Meta-analysis of genetic variability in the beta-amyloid production, aggregation and degradation metabolic pathways and the risk of Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17854420
was generated by: ECO_0000203

NP2163.RAMTLOsGTtJYVzqTKmqlsDcWBhhMWXIHdrt5NIr0 C12A
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha-1-antichymotrypsin (ACT or SERPINA3) polymorphism may affect age-at-onset and disease duration of Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16137793
was generated by: ECO_0000203

NP2164.RA-aMtfHIe2vANI0qRLYCbloUGo4qYdjFAGXLjvAkPLzg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha-1-antichymotrypsin promotes beta-sheet amyloid plaque deposition in a transgenic mouse model of Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11222634
was generated by: ECO_0000203

NP2165.RArG13MoZfsAqIw1NgZlm SPU7gzA-riARvwpAniaISQc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In addition, polymorphisms in the signal peptide and 5' of the AACT gene have been reported to increase the risk of developing AD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10713585
was generated by: ECO_0000203

NP2166.RAuMuJCT-riaxAc26l5kWxh7f3KW6vDPx3n8hgT-mik84
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In conclusion, ACT-17 variation presents a risk factor for AD in the worldwide population, especially in the Caucasian population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22272609
was generated by: ECO_0000203

NP2167.RABXmqZppmqpWGVsXmP3sMcqn3U2UDFzgKhNMvHXqbEu4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Among male AD patients, the ACT/AA genotype was also associated with shorter disease duration before death as compared to the ACT/AT+TT genotypes (p = 0.012).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16137793
was generated by: ECO_0000203

NP2168.RAxkuIaxRkDJIXd lLt3fgu6TmCp4OjE3sZj80d5YIGqk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Distribution of plasma alpha 1-antichymotrypsin levels in Alzheimer disease patients and controls and their genetic controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11959399
was generated by: ECO_0000203

NP2169.RAwIo6y1LSZ-Oh68XWgt-KNpliT50BGmeO2n9vC5TkjSg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Plasma ACT might be used as a surrogate marker to monitor the conversion of pre-dementia stages to AD and the progression of the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18991685
was generated by: ECO_0000203

NP2170.RAPZrG7iC-sv6 EdmpMpjgDMHdWiSGb5ZVuaCo4I3tZCE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Apolipoprotein E and alpha-1 antichymotrypsin polymorphism genotyping in Alzheimer's disease and in dementia with Lewy bodies. Distinctions between diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9484359
was generated by: ECO_0000203

NP2171.RATSEOltqXDFJjrOns32LPnVT8gLlUwTZ8-9MNStGO NM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Gender-specific nonrandom association between the alpha 1-antichymotrypsin and apolipoprotein E polymorphisms in the general population and its implication for the risk of Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9129962
was generated by: ECO_0000203

NP2172.RAFgFWBv1AakXJk5O2MGSGA6V9CDJeZ Mh7f ROfqqeMc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our results do not support previously reported association of ACT and A2M with LOAD, at least in Korean population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11290389
was generated by: ECO_0000203

NP2173.RAVqMc2yJlyoEVg 3qHgWvhf7NzSkNN3nDnf7gM2iG6cs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [No association between the alpha 1-antichymotrypsin A allele and Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9153464
was generated by: ECO_0000203

NP2174.RAXfRko9SVRjElwbsXqfZrG2jKF6kwpJS8ytHH258yPCU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our results demonstrate that peripheral ACT levels are elevated in AD, but not in dementias other than AD, and they increase with progression of AD dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12509851
was generated by: ECO_0000203

NP2175.RArkwIOZVeleQErHOwe Sz9JwwXU33IRLLr- TsX-i 5k
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Polymeric AACT specifically seeds the polymerization of native protein by a serpin-dependent process that occurs under physiological conditions and may be important in the deposition of AACT in plaques in patients with Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12600202
was generated by: ECO_0000203

NP2176.RA9fUJnAqtv jzEl2DUG68OmximWUXw64PIejBACLvrD4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [APOE is a risk gene for amnestic MCI and that ACT and CHRNA7 may act in these patients as modifier genes for the time of progression to AD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18078695
was generated by: ECO_0000203

NP2177.RALkOVi7e0Y55pR SIrnSQKn1oR1880nERXqrhF3cGzjU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [AACT * A6 allele may be associated with AD negatively in Shanghai area, and this effect only exists in non-ApoE * epsilon 4 AD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11715411
was generated by: ECO_0000203

NP2178.RAqSF ScQbsV64 9Osf9cA87VC6capW90m4luTFllD4S4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [This suggests that alpha 1-antichymotrypsin staining might identify a different facet of the pathology of Alzheimer's disease than does neurofibrillary tangle staining and may provide new information in the study of this condition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/7685570
was generated by: ECO_0000203

NP2179.RALAJ7p34 EyZ7dP2e1RExKuF9cyhkJSy6A3nFJfole2w
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Immunocytochemistry of aged cynomolgus brain showed A beta P deposited in blood vessels and diffuse and compacted plaques closely resembling those of humans, and the presence of beta-amyloid-associated proteins (alpha 1-antichymotrypsin; complements C1q and C3c) characteristic of A beta P deposits in Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/1905108
was generated by: ECO_0000203

NP2180.RA1QXOPZMWjN3H4HH1w0cb5RterXA2XZORP5797OWk9e0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Immunochemical identification of the serine protease inhibitor alpha 1-antichymotrypsin in the brain amyloid deposits of Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/3257719
was generated by: ECO_0000203

NP2181.RAfygy8Mi1D2wPbtmpBG9p3nteKx9vePxJPltTPERR1LU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Increased levels of alpha-1-antichymotrypsin in brains of patients with Alzheimer's disease correlate with activated astrocytes and are affected by APOE 4 genotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9688331
was generated by: ECO_0000203

NP2182.RAnFBMBFG87v9DITCt-LghxRjmFGILvgGFH6HQnn4WR5g
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A new promoter polymorphism in the alpha-1-antichymotrypsin gene is a disease modifier of Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15653173
was generated by: ECO_0000203

NP2183.RA-bFLwjjGRlMe-5U604etZhcaH35OwbrwEgx IRPxXw8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Polymerase chain reaction-denaturing gradient gel electrophoresis (PCR-DGGE) and DNA sequencing were employed to screen the coding region of the alpha-antichymotrypsin (AACT) gene in Han-Chinese population for polymorphism possibly associated with Alzheimer's disease (AD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10980547
was generated by: ECO_0000203

NP2184.RASY9qJnbHJE7tj7f1XP5N20fhxlPDniCuJu0sBUMXDgs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In conclusion, ACT may play an important role in the AD pathogenesis and genetic variation in the ACT gene appears to have some effect on plasma ACT concentrations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11959399
was generated by: ECO_0000203

NP2185.RAys5OQQGeyWVPsS0MKXyep72x3PyYcbi9xXtNY-lsbRE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Main genes involved in AD include mutational loci (APP, PS1, PS2, TAU) and multiple susceptibility loci (APOE, A2M, AACT, LRP1, IL1A, TNF, ACE, BACE, BCHE, CST3, MTHFR, GSK3B, NOS) distributed across the human genome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12369958
was generated by: ECO_0000203

NP2186.RAMp0e0G785KHHUUdJfSGPE4sU Y67v Jqg8P5OhdN0w8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Now there is evidence that the risk of AD is substantially influenced by a total of 10 polymorphisms in the inflammatory agents interleukin 1alpha, interleukin 1beta, interleukin 6, tumor necrosis factor alpha, alpha(2)-macroglobulin, and alpha(1)-antichymotrypsin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11708985
was generated by: ECO_0000203

NP2187.RANfTypgvVTgmxPKj5Ja6v45LVZAUj-FalZXyOqDMfRJU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [This result was further confirmed by the finding that addition of purified ACT induced the same Alzheimer's disease-related tau hyperphosphorylation in cortical neurons cultured in vitro.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16987932
was generated by: ECO_0000203

NP2188.RAyB7jmXBlXXUTLNcVWXm2i0sHcVOREsjzL37Yyg-eKhw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A25G and G39A substitutions in the AACT gene are probably one of the risk factors to Alzheimer's disease (AD) in Han Chinese.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11798857
was generated by: ECO_0000203

NP2189.RAYol4waRp0fDvEazMtIPcBMQxvKv9-AwGLhIAJTZ Ego
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The ACT gene appears to influence the early clinical development of the disease, and the interaction of the ACT and APOE genes affects clinical progression of AD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15653173
was generated by: ECO_0000203

NP2190.RAS5HFhGHLp3G1 DEZqiR8uHn1-Ts9AWh-Gf32Y9zFlO4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic analysis of Alzheimer's disease in the Uppsala Longitudinal Study of Adult Men.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19141999
was generated by: ECO_0000203

NP2191.RAiafZrTPVD2gNPAfI93xOoCjLighJUwZW9wm9eZ8rM1w
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Review article]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12452480
was generated by: ECO_0000203

NP2192.RAE8Uq9R3WbJpU-5RqRe-QsqJxlbciMv2nAs4MuQDOJJg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Polygenic determinants of Alzheimer's disease: modulation of the risk by alpha-1-antichymotrypsin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8993481
was generated by: ECO_0000203

NP2193.RACJI1O6zrIiz2ZEdBX3jtFephiJKq0T-5qszO6evPhjI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Apolipoprotein E and intronic polymorphism of presenilin 1 and alpha-1-antichymotrypsin in Alzheimer's disease and vascular dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10940674
was generated by: ECO_0000203

NP2194.RAYjoIpXFcRvoTyOu-qO9EqKpbcXRH1qCdp--8yyaF2IE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha 1-antichymotrypsin gene polymorphism and risk for Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9013407
was generated by: ECO_0000203

NP2195.RAzNbYtiw7WgGNNCaY E-0odszmBVcSxMYdlodwWxSBpA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic association of two chromosome 14 genes (presenilin 1 and alpha 1-antichymotrypsin) with Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9749607
was generated by: ECO_0000203

NP2196.RAi T984eYTvvH6dpmDQ9eTEmvxie1ccI6cFb5R0gQKqY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Blood levels of alpha-1-antichymotrypsin and risk factors for Alzheimer's disease: effects of gender and apolipoprotein E genotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10629358
was generated by: ECO_0000203

NP2197.RAbnncgQKPkxa8tUT8F7-h1ylHveZvYCkqt18FPPYv2og
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A role for apoE in regulating the levels of alpha-1-antichymotrypsin in the aging mouse brain and in Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10487844
was generated by: ECO_0000203

NP2198.RAn8Yd4Jal1xWP8D9Ajb73Prqcq0LEcu29dbQUr3JEpc0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Testing 147 AD patients and 74 controls, we did not find evidence of an association between alpha 1-antichymotrypsin polymorphism and AD and also failed to detect a modifying effect of this polymorphism in patients carrying at least one epsilon 4 allele of apolipoprotein E.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8960749
was generated by: ECO_0000203

NP2199.RAztM6hmkSgeNuyLrl2AbUGihGT9lzPxwpU6rkp9lPqe8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [(1,2) However, it is unknown whether the increased expression of alpha(1)-antichymotrypsin found in AD brains counteracts or contributes to the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11106573
was generated by: ECO_0000203

NP2200.RAXwjbHsVTjvsZ ccuoQoRSV-3cY0G7U1OLmi5O7W6OUw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha1-antichymotrypsin (ACT: new identification SERPINA3) is a member of the serine proteinase inhibitor (serpin) gene family and biochemically has been shown to be a constituent of the senile plaques of Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11702211
was generated by: ECO_0000203

NP2201.RAvd91nTlX7jTnW1hRYsyRuufoWrF9HR2ofD7tP0DNjWw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Effect of cytokines, dexamethasone and the A/T-signal peptide polymorphism on the expression of alpha(1)-antichymotrypsin in astrocytes: significance for Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11578771
was generated by: ECO_0000203

NP2202.RAOPS-mtzv2Xvxy3ewpMr7XTjVblMaK1u0uRxwZzVE35k
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic variation in alpha(1)-antichymotrypsin and its association with Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11941486
was generated by: ECO_0000203

NP2203.RAlT8Ocx8oOOEitTrnWuKeGcrfLLTRenASqrMjcaWSea0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Microsatellite polymorphism of the alpha 1-antichymotrypsin gene locus associated with sporadic Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9003488
was generated by: ECO_0000203

NP2204.RAkGt5p3mNismEWJ340 Da7iVD8uLfExLv8kmU6T3mTBE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Allele-specific overexpression in astrocytes of an Alzheimer's disease associated alpha-1-antichymotrypsin promoter polymorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15530656
was generated by: ECO_0000203

NP2205.RAa1Kk9W2X8IsUxvqZ0eMvw9dMXJ4Gu2hWokbgoUPFP-4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Higher CSF levels of neuroserpin and alpha(1)-antichymotrypsin were associated with the clinical diagnosis of Alzheimer disease (AD) and facilitated the diagnostic classification of AD vs controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17761554
was generated by: ECO_0000203

NP2206.RAkB vy 91BnGYHJZFm4Yxrou-LABYMLKIbpK SvTMPOI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The expression of alpha(1)-antichymotrypsin (ACT) is significantly enhanced in affected brain regions in Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11027208
was generated by: ECO_0000203

NP2207.RA71a5hO7O-oBYR3iB6pboL NDmUyTFkV7dWXebIuCT9M
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha-1-antichymotrypsin gene polymorphism and risk for sporadic Alzheimer's disease in a German population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10559561
was generated by: ECO_0000203

NP2208.RAnHQWiYrzsZSTmQDa2K7UbeNf3-Le6mS8lOe-BZisUzs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Serine protease inhibitors (serpins) such as alpha 1-antitrypsin and alpha 1-antichymotrypsin have been found to be associated with beta-amyloid deposits; interest in their role in the pathogenesis of AD has therefore recently increased.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8931713
was generated by: ECO_0000203

NP2209.RAH42T-h9gQ22xu2iu838B4Qwgdaqrs53-ZmluFx2CjV4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [There are striking similarities between the pathology of inclusion-body myositis muscle and brains affected by Alzheimer's disease in regard to accumulation of ubiquitin, beta-amyloid protein and its precursor protein, alpha 1-antichymotrypsin, and hyperphosphorylated tau.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8117535
was generated by: ECO_0000203

NP2210.RA5UERqvCcCbHN8YmPv9NfePyeOe6wu4bAq2hEulANLGo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [APOE*4-associated Alzheimer's disease risk is modified by alpha 1-antichymotrypsin polymorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/7670501
was generated by: ECO_0000203

NP2211.RAVYTtBflmRQa4WXKNLFRET2-2OwN4u0 Rv2ZicB45xvg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [overexpression of ACT by astrocytes could thus contribute to increased beta-amyloid fibril formation in Alzheimer's disease]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15530656
was generated by: ECO_0000203

NP2212.RAG2LK1EL3TWkX9aI2VuUDBx5 Kdd6dmIIUvo7P ofHLg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Kamboh et al reported an association between Alzheimer's disease and the A allele of alpha1-antichymotrypsin (Aact) gene, which was not confirmed in a larger series more recently analysed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9221977
was generated by: ECO_0000203

NP2213.RAca-VkMgy6gxV1a08dw-oNW0WNHpyvenTi46Au2uoMSw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Lack of genetic associations of alpha-1-antichymotrypsin polymorphism with alzheimer-type neuropathological changes or sporadic Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10325450
was generated by: ECO_0000203

NP2214.RAZEXWElUZFAY0nBR pw5rWrhgJqdi4ByekrS meaTWZw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Microsatellite polymorphism of the alpha 1-antichymotrypsin gene locus associated with sporadic Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9003488
was generated by: ECO_0000203

NP2215.RAzA4hpfzFtIb4Wo03aZ2YWqXmrVfYGPrVUbfgbv9GNZM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Transfection of precursor miR-34b or miR-34c into CRC cells induced dramatic changes in the gene expression profile, and there was significant overlap between the genes down-regulated by miR-34b/c and those down-regulated by DAC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18519671
was generated by: ECO_0000203

NP2216.RAgs3XBcV-qRccAm6f7S-XQigy3YtJECZP6r wwibODUM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Low-dose demethylating agents such as 5-aza-2'-deoxycytidine (decitabine, DAC) and 5-azacytidine (azacitidine, Vidaza) have been explored for the treatment of myelodysplasia, acute myeloid leukemia, and hemoglobinopathies since the early 1980s, aiming to revert a methylator phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16292549
was generated by: ECO_0000203

NP2217.RAWD8zb0qb69imUReAg2C7PX1uQNNEn8yshlomDBpP3aw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We studied mitochondrial and apoptotic parameters in mononuclear cells from maternal peripheral blood and infant cord blood at delivery in 27 HIV-infected and treated pregnant women, and 35 uninfected controls and their infants, to correlate clinical outcome with experimental findings: mitochondrial number (CS), mtDNA content (ND2/18SrRNA), mitochondrial protein synthesis (COX-II/V-DAC), mitochondrial function (enzymatic activities) and apoptotic rate (caspase-3/?-actin).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22156962
was generated by: ECO_0000203

NP2218.RAX5YIJ335dW9amRVPZeomyWLPHb1xbn4pTuw6jflAHIs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Preclinical data indicate that DAC is much more effective against human AML than ARA-C.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23660386
was generated by: ECO_0000203

NP2219.RAQxd8Uer76B PjGVLoXAsz54Bz5adg3Sg-Z8LKqRbP74
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [This study, the first to investigate the relationship between TERT methylation and telomerase activity in leukemia cells, demonstrated a differential methylation pattern and response to DAC in three AML cell lines.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22517724
was generated by: ECO_0000203

NP2220.RA1Lel2y-osJ0Rf0JmX5Vfipvh24LTe1lowf6UZTSAv3M
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Undergoing allo-HSCT significantly improved the LFS and OS for the entire group of patients with AML in CR1, along with the DAC induction subgroup and for the group with unfavorable cytogenetics aged 41-60.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/26149802
was generated by: ECO_0000203

NP2221.RATEuWjSbLKpZJJ56rerkw2JXPuU07bfDfilSCYJ6qGFI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The promoter of p73 was hypermethylated in AML cell lines in vitro and in primary AML cells ex vivo but not in DAC-resistant epithelial cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16193303
was generated by: ECO_0000203

NP2222.RAU4GXcV6fqO6lLvDEj-0Pmn9DyVtWFNTzZD9MOanBX5Y
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To identify miRNAs regulated by DNA methylation, the global miRNA expression profile was analyzed in two hepatocellular carcinoma (HCC) cell lines and two normal immortalized cell lines treated with 5-Aza-2'-deoxycytidine (DAC, an inhibitor of DNA methylation) plus TSA (Trichostatin A, histone deacetylase inhibitor).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25649327
was generated by: ECO_0000203

NP2223.RAMZLQFi35m7u4hkI3XON3TNbofdT-gEJ4NhbuLOsRLps
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Arylacetamide deacetylase attenuates fatty-acid-induced triacylglycerol accumulation in rat hepatoma cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19654421
was generated by: ECO_0000203

NP2224.RAGu4EKXtxUt0XPcN0KPufyDOhxmljyu5WWwod8Qv2IQw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Systems level analysis and identification of pathways and networks associated with liver fibrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/25380136
was generated by: ECO_0000218

NP2225.RAcxzzZjwY-uUkw fj7OXoP6WwtZ 5fEZ9By1lXb3sfO4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Arylacetamide deacetylase attenuates fatty-acid-induced triacylglycerol accumulation in rat hepatoma cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19654421
was generated by: ECO_0000203

NP2226.RA5yOxpuM1Ddrh9SHLX2ISCnGXe3GfgSJjBvuUgGOP-Ts
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Encouraging response rates of about 50% in myelodysplasia with 5-azacytidine and 5-aza-2'-deoxycytidine (decitabine or DAC) have resulted in a number of phase III studies being initiated in this disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16210092
was generated by: ECO_0000203

NP2227.RA9pOILYjaZLILXPbECDU812VzN-8xDhWS82jxSV41uKI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Low-dose demethylating agents such as 5-aza-2'-deoxycytidine (decitabine, DAC) and 5-azacytidine (azacitidine, Vidaza) have been explored for the treatment of myelodysplasia, acute myeloid leukemia, and hemoglobinopathies since the early 1980s, aiming to revert a methylator phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16292549
was generated by: ECO_0000203

NP2228.RAsFrqyq4Jy1Gd 5VhhuJTO98jWFDpojTzfmDoSGtfgkI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [During the last 10 years, three European phase II studies were performed to investigate the treatment of elderly patients with myelodysplastic syndrome (MDS) with low-dose 5-aza-2'-deoxycytidine (decitabine, DAC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16211386
was generated by: ECO_0000203

NP2229.RAxknQW4MS7VmuCU- PGKgNT9eh7BJI4mvXbJw3lsat7s
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Encouraging response rates of about 50% in myelodysplasia with 5-azacytidine and 5-aza-2'-deoxycytidine (decitabine or DAC) have resulted in a number of phase III studies being initiated in this disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16210092
was generated by: ECO_0000203

NP2230.RAdOSXXC51fNkNgZqrfmeGYsIEznpjSw6055UvXyNIpKw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Low-dose demethylating agents such as 5-aza-2'-deoxycytidine (decitabine, DAC) and 5-azacytidine (azacitidine, Vidaza) have been explored for the treatment of myelodysplasia, acute myeloid leukemia, and hemoglobinopathies since the early 1980s, aiming to revert a methylator phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16292549
was generated by: ECO_0000203

NP2231.RAt5gxoABLCRwpIZzFCTy6KF2d41PsfiD-prwm0iRTXTU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Putative methylation markers were selected from DAC-upregulated genes through a literature search and an upfront methylation-specific PCR on 20 primary neuroblastoma tumors, as well as through MBD- seq in combination with publicly available neuroblastoma tumor gene expression data.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23034519
was generated by: ECO_0000203

NP2232.RAfh9P2oTFmxfARyelfVf6qKmI8NQ6eKq4v762UAFS-oM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We have demonstrated that the expression of MAGE-A1, MAGE-A3, and NY-ESO-1 can be upregulated on neuroblastoma cells following exposure to pharmacologic levels of the demethylating agent 5-aza-2'-deoxycytidine (decitabine, DAC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21626030
was generated by: ECO_0000203

NP2233.RA--WvVEJQBOZC7H174a9r5YicJQMak8r2zVDU asKQi8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A combination of DAC and SAHA inhibited ovarian cancer growth while inducing apoptosis, G2/M arrest, autophagy, and re-expression of imprinted tumor suppressor genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21491416
was generated by: ECO_0000203

NP2234.RAIdI39juOrv pJj2gxgNWYWH527LMQYkpHHCbRCF0u9k
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Both events were recently shown to occur in a rhabdomyosarcoma cell line (RD-DAC) resistant to actinomycin D, a drug of choice in the treatment of these tumours.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8943821
was generated by: ECO_0000203

NP2235.RAkF52PBfmhtiWIpfxkUS3Gu7LW6s 7ZjUIjzPgjpRBjA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The TE.32.7-DAC-resistant cell line exhibited cross-resistance to vincristine and doxorubicin and showed mdr1/P-glycoprotein over-expression, suggesting that this mechanism was involved in the reduction in intracellular drug concentration and may be responsible for the failure of treatment of RMS with classical cycles of cytotoxics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9455797
was generated by: ECO_0000203

NP2236.RAQLVKZ-QW5cEH8OlzfDj4TKw4XBHUOIiNjeClwJqemy8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20379614
was generated by: ECO_0000203

NP2237.RAUA6I EIByPTxi83yyncGxSzbVJ3GF3TBfQ4wrxhmZis
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/26444075
was generated by: ECO_0000203

NP2238.RAo2OMBleHbEk44jtoKBCi9Jia6 JqO9XkSnq5p3aHIfI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [This study is aimed to investigate, on transcriptional and protein levels, the synergic effects of unaccompanied and/or combined use of 5-aza-2'-deoxycytidine (DAC, 5-aza-dC), trichostatin A (TSA), and gemcitabine+cisplatin chemotherapeutic agents on the apoptotic pathway of human bladder cancer cell line T24.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24665856
was generated by: ECO_0000203

NP2239.RAHzVSPw1oYJ0S 2stzfdL0GUX09zs Zvyh92UctCfT9M
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [This study is aimed to investigate, on transcriptional and protein levels, the synergic effects of unaccompanied and/or combined use of 5-aza-2'-deoxycytidine (DAC, 5-aza-dC), trichostatin A (TSA), and gemcitabine+cisplatin chemotherapeutic agents on the apoptotic pathway of human bladder cancer cell line T24.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24665856
was generated by: ECO_0000203

NP2240.RA AVwj8jBYgYUnedcQk 4LlqLFnfGxx3BMPR hzV2xyY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We have demonstrated that a demethylating chemotherapeutic drug, 5-aza-2'-deoxycytidine (decitabine, DAC) can upregulate the expression of cancer-testis (CT) antigens, MHC molecules, and intracellular cell adhesion molecule-1 on pediatric sarcoma cell lines, resulting in enhanced killing of tumor cells by CT antigen-specific cytotoxic T lymphocytes derived from pediatric sarcoma patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24584817
was generated by: ECO_0000203

NP2241.RA9HLz9alDWVsvDx-yCbOWEYfJLh0x 8stfGHebq2Z16s
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In the present study, the results denote some new molecular DAC targets and pathways based on the chemical modification of DNA methylation in breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22076154
was generated by: ECO_0000203

NP2242.RAiRq3NfMFlQLOuves8flHV09k qmqfFRPhVV05IMRqs8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Therefore, in the present study, we hypothesize that the expression and methylation status of the secreted frizzled-related protein 2 (sFRP2) gene, one of the secreted antagonists that bind Wnt protein, and re-expression of this gene with the demethylation agent (5-aza-2'-deoxycytidine; DAC) may induce apoptosis in RCC cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23975733
was generated by: ECO_0000203

NP2243.RA9vZyjYLTx-HWQKU5xm YQ-YptS5-D1lR-QwZMMqGuSQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Transfection of precursor miR-34b or miR-34c into CRC cells induced dramatic changes in the gene expression profile, and there was significant overlap between the genes down-regulated by miR-34b/c and those down-regulated by DAC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18519671
was generated by: ECO_0000203

NP2244.RAPrXa9h8GBe1pJ6eieE1WOAblGS5fv RFeICeh0HwoKE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The Dachshund (dac) gene, initially cloned as a dominant inhibitor of the Drosophila hyperactive EGFR mutant ellipse, encodes a key component of the cell fate determination pathway involved in Drosophila eye development.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19605405
was generated by: ECO_0000203

NP2245.RA0-cUplj3Q9b3GrwXx7u130oxcW0GDPutDN2ONXHnLUI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The Drosophila Dac gene was cloned as an inhibitor of the hyperactive epidermal growth factor (EGFR), ellipse.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23798621
was generated by: ECO_0000203

NP2246.RACg13Y7bgCUeH-6Z O1fdtqNzP9JzV0Bhqpeph2mC23g
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In the present study, the results denote some new molecular DAC targets and pathways based on the chemical modification of DNA methylation in breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22076154
was generated by: ECO_0000203

NP2247.RATbVO2X N-1AUQO37dU Ca3 5pNER71wj5bssrMlF3s4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [This study is aimed to investigate, on transcriptional and protein levels, the synergic effects of unaccompanied and/or combined use of 5-aza-2'-deoxycytidine (DAC, 5-aza-dC), trichostatin A (TSA), and gemcitabine+cisplatin chemotherapeutic agents on the apoptotic pathway of human bladder cancer cell line T24.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24665856
was generated by: ECO_0000203

NP2248.RA5QN-IynZkG2iUSQypL1tMD4GqS8hLQ vniqHWsHgeaM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Putative methylation markers were selected from DAC-upregulated genes through a literature search and an upfront methylation-specific PCR on 20 primary neuroblastoma tumors, as well as through MBD- seq in combination with publicly available neuroblastoma tumor gene expression data.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23034519
was generated by: ECO_0000203

NP2249.RAvWh5lDH04UxO4EGvTrFb7 MNnfAqWByf8JaN4v1nGDI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We have demonstrated that the expression of MAGE-A1, MAGE-A3, and NY-ESO-1 can be upregulated on neuroblastoma cells following exposure to pharmacologic levels of the demethylating agent 5-aza-2'-deoxycytidine (decitabine, DAC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21626030
was generated by: ECO_0000203

NP2250.RAc R7vtAH rgzo pJyUH3bDe7FzTx8cZK0Uo-di0flvg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A combination of DAC and SAHA inhibited ovarian cancer growth while inducing apoptosis, G2/M arrest, autophagy, and re-expression of imprinted tumor suppressor genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21491416
was generated by: ECO_0000203

NP2251.RAPtELszcKu2wHkF1kVjXsCUchi72MARmdwMEAOa43nqk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A significant increase in the mRNA expression levels of MAGE-A1 and MAGE-A3 were found in 70 %, and NY-ESO-1 in 80 % of the sarcoma lines following exposure to pharmacological levels of DAC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24584817
was generated by: ECO_0000203

NP2252.RAxSu3XqNhpT0f54qiPTTP9Xu4jd2BUt1eCmCjW 4vJvQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Upon analysis of the tissue distribution of AAMP, it was found to be expressed strongly in endothelial cells, cytotrophoblasts, and poorly differentiated colon adenocarcinoma cells found in lymphatics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/7743515
was generated by: ECO_0000203

NP2253.RA8zvWklH59Kd86XeJfUnJirj-HxRXcYcI7jku8Di7elk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The cDNA for AAMP (angio-associated, migratory cell protein) was first isolated from a human melanoma cell line during a search for motility-associated cell surface proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/7743515
was generated by: ECO_0000203

NP2254.RAMkmYYz4CioKa13Xrt2CV1LDWDCIgTZg80QuKZ oZXU0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In the present study, we have investigated all the genes involved in the melatonin pathway by mutation screening of AA-NAT (arylalkylamine N-acetyltransferase), ASMT, MTNR1A, MTNR1B (melatonin receptor 1A and 1B) and GPR50 (G protein-coupled receptor 50), encoding both synthesis enzymes and the three main receptors of melatonin, in 109 patients with autism spectrum disorders (ASD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20377855
was generated by: ECO_0000203

NP2255.RAy8kCkT0B Joc6YE-rCXArVqyG-AhQkXw5SRJkc20AA4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Finally, a significant correlation was observed between AA-NAT and edn-1 expression downregulation in human colorectal cancer tissues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24628039
was generated by: ECO_0000203

NP2256.RAeXQOhe7SlvF1SChXSW2vME0HL0kJ5olcsBfpkdj2-Ws
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The products of AANAT activity were identified by RP-HPLC with fluorimetric detection in human skin and in cultured normal and malignant melanocytes and immortalized keratinocytes; HIOMT activity was detected in human skin, keratinocytes, and melanoma cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12039872
was generated by: ECO_0000203

NP2257.RALlJ zE-wDjDIebtFMvHYc0BISguucCc7DOjZ5UCKSGk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The role of arylalkylamine N-acetyltransferase (AANAT) enzyme and impact of melatonin, as a major output factor of circadian rhythm, and its protective role in melanoma are discussed in details.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24729125
was generated by: ECO_0000203

NP2258.RAZ73vKAkHYS2ZpLTRxJGuTF tErpHgFzM0-yCoMcEMww
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The present review also makes a comment on the role of arylalkylamine N-acetyltransferase, an important enzyme involved in the conversion of serotonin to melatonin, in asthma pathogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18680475
was generated by: ECO_0000203

NP2259.RAEd5I0 Y-X3jFa-dMUrEi3ThS vJWEyLb9snxdCRJ1VM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Two key enzymes involved in the synthesis of melatonin, hydroxyindole-O-methyltransferase (HIOMT) and arylalkylamine N-acetyltransferase (AA-NAT), are present in Y79 human retinoblastoma cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10496148
was generated by: ECO_0000203

NP2260.RA1jh7BwlowbVjX7O7ThUeBRgEIQLcg5Bg0oI4MA9jmF0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19839995
was generated by: ECO_0000203

NP2261.RAP7RXa7-nYEu9KEOxoEjKU6 ZXBrOKrR4XfMWfUsDqLk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Variations at these loci may contribute to an understanding of the way in which different genotypes may affect the activities of human N-acetyltransferases, especially as regards the therapeutic efficacy of certain drugs and antibiotics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11393533
was generated by: ECO_0000203

NP2262.RASrEogkA1AkufVlJN4zNXiUpZYA0H0Hw5CunnRnK4t40
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [TPH1 polymorphisms were associated with AIS but not with gender and Cobb angle in AIS patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18794762
was generated by: ECO_0000203

NP2263.RAQhusb0cSo OEPV2JUztIckD1BTEHgRSmDbcqiM8kDII
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Examination of association of genes in the serotonin system to autism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19184136
was generated by: ECO_0000203

NP2264.RAIuOc9hvFi4hR9Hdq22hqk- DgbcCO1IOzkbFhXJalMM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Resequencing and association analysis of arylalkylamine N-acetyltransferase (AANAT) gene and its contribution to major depression susceptibility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20459461
was generated by: ECO_0000203

NP2265.RAm8b0 VwavePak uX1zDbOznFdkyw2wNQ0e-tmONXZYI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19839995
was generated by: ECO_0000203

NP2266.RAWGDqlD902LcKuoL-6nkxX5RaMMuM34tcjrZ2ylvMKvA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We assessed the contribution of AANAT gene variability to susceptibility to MD considering common and rare genetic variations through a sequential sequencing and single nucleotide polymorphism (SNP)-based genotyping approach in a sample of 445 unrelated patients with MD (257 unipolar MD, 188 bipolar depression) and 440 community-based screened control subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20459461
was generated by: ECO_0000203

NP2267.RACeDQsMqeYj6wJOC7Fph1-vDrD9LZOHW0u1nYSSI4uFc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We assessed the contribution of AANAT gene variability to susceptibility to MD considering common and rare genetic variations through a sequential sequencing and single nucleotide polymorphism (SNP)-based genotyping approach in a sample of 445 unrelated patients with MD (257 unipolar MD, 188 bipolar depression) and 440 community-based screened control subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20459461
was generated by: ECO_0000203

NP2268.RAVMEuSGFmQxZPxyZE02SSKzKO3oCKbvOVO54HJ2EP9BE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [After applying FPRP and BFDP in women with at least four night shifts, an increased risk of breast cancer was associated with variant alleles of SNPs in the genes AANAT (rs3760138, rs4238989), BMAL1 (rs2290035, rs2278749, rs969485) and ROR-b (rs3750420).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23822714
was generated by: ECO_0000203

NP2269.RALCFIbODHoNYb-J4jWk4htf4awOPcvMFhiveINLqPa2I
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [No significant breast cancer associations were found for variants in the AANAT gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22138747
was generated by: ECO_0000203

NP2270.RAAWEjHyDSuswWjAo-soGr2XotiDdsA9Sosuhui20NyK8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [For combined heterozygotes and rare homozygotes a slightly elevated breast cancer risk was found for rs8150 in gene AANAT (OR 1.17; 95% CI 1.01-1.36), and a reduced risk for rs3816358 in gene ARNTL (OR 0.82; 95% CI 0.69-0.97) in the complete study population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25229211
was generated by: ECO_0000203

NP2271.RA7a6kQ2DJfTi8OjkxUVUd18R-hz8nz -DmSo1xIsnkcw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Finally, a significant correlation was observed between AA-NAT and edn-1 expression downregulation in human colorectal cancer tissues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24628039
was generated by: ECO_0000203

NP2272.RA9ICN-MqLcku 4cyqu37UdJ8P0nEshjuqumuWQoLufT0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Resequencing and association analysis of arylalkylamine N-acetyltransferase (AANAT) gene and its contribution to major depression susceptibility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20459461
was generated by: ECO_0000203

NP2273.RAM444ENHdfl38rBTmVRnTj2hkoX6RPs1am2188V2VuWs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Further studies are needed to fully characterize the behavioral significance of AANAT mutation and its possible link to depression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11316327
was generated by: ECO_0000203

NP2274.RAD9XCg4uHW hdSoD919eCe14x78YDTy4XXwYCC2rWDgo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Further studies are needed to fully characterize the behavioral significance of AANAT mutation and its possible link to depression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11316327
was generated by: ECO_0000203

NP2275.RA9bDT8c6MURWu6jQ5OJcClRcDEYudmsy oHvGe9C4mHA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Significant association of the arylalkylamine N-acetyltransferase ( AA-NAT) gene with delayed sleep phase syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12736803
was generated by: ECO_0000203

NP2276.RAtScDstrKLdtfsz6cJycfJjA1lewdYomCXNLcygHLEg8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genes involved in melatonin synthesis, such as Aa-nat, may be important for our understanding of diurnal preference and circadian rhythm disturbances in humans.In Japan, Hohjoh et al. reported increased allelic frequencies of the 619A allele of the G619A Aa-nat gene polymorphism in a sample of Delayed Sleep Phase Syndrome (DSPS) patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17503170
was generated by: ECO_0000203

NP2277.RAEU004jeMbFk EVOnqnJVYSV6uiRLz84hJoDcVTnBTOA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Significant association of the arylalkylamine N-acetyltransferase ( AA-NAT) gene with delayed sleep phase syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12736803
was generated by: ECO_0000203

NP2278.RAj-MugUn NgltBcClsHWSc8ujMSFsffDgkmELKEZptxs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Variations at these loci may contribute to an understanding of the way in which different genotypes may affect the activities of human N-acetyltransferases, especially as regards the therapeutic efficacy of certain drugs and antibiotics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11393533
was generated by: ECO_0000203

NP2279.RAYtSnqVxkwtToGDxesi7My9gP81IOQ18SyHTN4tmmSVw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [After applying FPRP and BFDP in women with at least four night shifts, an increased risk of breast cancer was associated with variant alleles of SNPs in the genes AANAT (rs3760138, rs4238989), BMAL1 (rs2290035, rs2278749, rs969485) and ROR-b (rs3750420).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23822714
was generated by: ECO_0000203

NP2280.RAVjcnhxIBLKGDH-xtDlIoGdSu4dtZPuj vS-vW pRXgA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [For combined heterozygotes and rare homozygotes a slightly elevated breast cancer risk was found for rs8150 in gene AANAT (OR 1.17; 95% CI 1.01-1.36), and a reduced risk for rs3816358 in gene ARNTL (OR 0.82; 95% CI 0.69-0.97) in the complete study population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25229211
was generated by: ECO_0000203

NP2281.RA4Wpc 0Bff56h42VfeTZGU1JdGxeZ9aAmNjMmnAbD52g
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [No significant breast cancer associations were found for variants in the AANAT gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22138747
was generated by: ECO_0000203

NP2282.RAYOAZFHCm-ZAPoBdi4Al4L8aPwbBRNdrwalvF328VSws
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Variations at these loci may contribute to an understanding of the way in which different genotypes may affect the activities of human N-acetyltransferases, especially as regards the therapeutic efficacy of certain drugs and antibiotics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11393533
was generated by: ECO_0000203

NP2283.RAlSdVxBzQiXebs8Htl1DaAaMSc2nhQP-f2lQ3okMp99s
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The -263G/C SNP may therefore be an important determinant of the late/short sleep pattern.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15332344
was generated by: ECO_0000203

NP2284.RAwegV3MmEgjFW9BpY0lqignHbx9K74aNJD7ltELq2ncs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Significant association of the arylalkylamine N-acetyltransferase ( AA-NAT) gene with delayed sleep phase syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/12736803
was generated by: ECO_0000218

NP2285.RAiBD4cbg--ifcGNMiAe7AkQIkVg6oepI3W4uaBaSPmi0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Resequencing and association analysis of arylalkylamine N-acetyltransferase (AANAT) gene and its contribution to major depression susceptibility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20459461
was generated by: ECO_0000203

NP2286.RAGYR 3-aOFWzicuD8leTNVK5b92MnTlGRAjjJCaKHAeo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

HPO
imported on: 2017-02-19
imported on: 2017-01-25
imported on: 2017-02-21
imported on: 2009-03-31

NP2287.RAgQEsF89nLk46JwERlTio9pWKi MWXBLVHCEIPLDE060
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Severe disruption of the editing activity of AlaRS caused embryonic lethality, whereas an intermediate reduction in AlaRS editing efficacy resulted in ubiquitinated protein aggregates and mitochondrial defects in cardiomyocytes that were accompanied by progressive cardiac fibrosis and dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25422440
was generated by: ECO_0000203

NP2288.RAPjhDGX3bDVtS4Usk91t8crbkCim4QQIpjJjVpgeeGMU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2289.RAdGYCdz3RQdZVGAida-l7YjaipmLIPP07KYhpU7HSq5U
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2290.RA4T Q-nGOKOnd7Gj9E-K4QkGjC-YaoRAQXkdluxIs2wc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2291.RAk 0CdYSnpEYXptoIBdYt koPAlk aC72nuVBl12Tsfg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2292.RA8-3KcdNn axdGfQKqSqEYTa4xX6i8YIp0nLaqtzl5kM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2293.RA4YGRA042rKrpIKcE2X7-rDrjRego3eLpE4qjpM-GO0I
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2294.RAepDJ ML dlQWioMh5khjW1B4vYgR0y-fY66bsVCXLWA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2295.RA- O8-mm9vnR7RuIS-sVjJfp6MYAw7MqOxD2ZZ1o FDw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2296.RA3kIPGeK44rroEQCQLGpNK8FOTgK0ybcv9lFiSOoRDQk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2297.RANLmFlGBRoAH-t0Jl0RDE8ildzKO6-h3UInciqIPWHYw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2298.RAVVpkHA6bTnn7ugWKUTOzka 1WHX6bn1O6k0URCq24yQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
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version: v5.0.0.0

assertion
description: [The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/22206013
was generated by: ECO_0000218

UNIPROT
imported on: 2017-01-25

NP2299.RA5HMseBm2lIS8jNxJISQWR6FH 40ssJufthpWc-1z7 E
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/20045102
was generated by: ECO_0000218

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has assertion: assertion
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has publication info: publicationInfo
type: Nanopublication
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rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: pubmed
was generated by: ECO_0000218

NP2301.RAm4 h2UNNCvj4tpxVckKXEr-W2WPbf4GA1evfHSZXoKA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/22009580
was generated by: ECO_0000218

NP2302.RAi LAl KfoqzwL0qKpGB-RS aw2zFdm29pMdZNQ YPv8
has assertion: assertion
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type: Nanopublication
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rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: pubmed
was generated by: ECO_0000218

NP2303.RAOFOh3FMnqOzxGVptovNwLwJlOgRFpmIaQIjnQOruiQY
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type: Nanopublication
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rights holder: IBIGroup
subject: SIO_000983
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authored by: http://orcid.org/0000-0001-5999-6269
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: pubmed
was generated by: ECO_0000218

NP2304.RAKMKBFY70IaiJbnr6weum3MPyLRKmZGnVwB4CJfnq56Y
has assertion: assertion
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type: Nanopublication
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rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21549344
was generated by: ECO_0000203

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rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
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authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2306.RAbhd2flQkFo-u8rG5mcTeCAgiLtZ9477EpmHCfCdZ92g
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type: Nanopublication
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rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2307.RA0BQDGkG1zXxry7Ig8Q6rF DpOgIiUgYGVOFO rc1N E
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Severe disruption of the editing activity of AlaRS caused embryonic lethality, whereas an intermediate reduction in AlaRS editing efficacy resulted in ubiquitinated protein aggregates and mitochondrial defects in cardiomyocytes that were accompanied by progressive cardiac fibrosis and dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25422440
was generated by: ECO_0000203

NP2308.RAoHyHIwAt6CiN TkitLaEHS5RBA-gONFIiCHOXR- JIY
has assertion: assertion
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type: Nanopublication
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rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2309.RAPNqwgBNv3o xYi1Yvb3n63D4LJXZgqicDTc9IXWneDE
has assertion: assertion
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type: Nanopublication
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rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2310.RA6eczuqm-QTDLKFwPIeGYM2Cq Whd94-vFcNI0m6lp9k
has assertion: assertion
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type: Nanopublication
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rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2311.RAXfh5QtwaqFxEPA358nzKkuxcwCzeUGjQVvL0ffQQNLA
has assertion: assertion
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type: Nanopublication
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rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2312.RAFGQjV0jKtSuMyiJ7UXou3o YUt-NNU6 Q5lm qlYUI8
has assertion: assertion
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type: Nanopublication
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rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2313.RAVao648SDYnv r2jw5OB2Xo4i0ay61oDuN3PsiU6ysu0
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rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2314.RA06Wj9zu FKRdbCEI LZtaIFVfmuY-M7X3QgDFmn2To0
has assertion: assertion
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type: Nanopublication
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rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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version: v5.0.0.0

assertion
description: [To investigate the role of AARS in CMT, we performed a mutation screen of the AARS gene in patients with peripheral neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22009580
was generated by: ECO_0000203

NP2315.RAa9LBYnuDWZY PcHjhGa6fnLgXQdXaK-TdJG4NAdPIjg
has assertion: assertion
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type: Nanopublication
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rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2316.RA 3te23ctonUkZxnEXl-3U32eHnyCZT0XswSTMzfKFQ4
has assertion: assertion
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type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/25817015
was generated by: ECO_0000218

NP2317.RAunvBA9cGo K7yC4C41VM5-OXybzEZAlVATPiQxva4qk
has assertion: assertion
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has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
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authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We report that the mouse sticky mutation, which causes cerebellar Purkinje cell loss and ataxia, is a missense mutation in the editing domain of the alanyl-tRNA synthetase gene that compromises the proofreading activity of this enzyme during aminoacylation of tRNAs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16906134
was generated by: ECO_0000203

NP2318.RA14F61IMwUG445gQ1 M9c4Fdp5lHt7DGOv-Z9tJdhwTo
has assertion: assertion
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has publication info: publicationInfo
type: Nanopublication
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rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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authored by: 0000-0002-9383-528X
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authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2319.RAt7GEbI-bkHlMfu0bg rmWjXchEYZbq6NocJT VWOLUg
has assertion: assertion
has provenance: provenance
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type: Nanopublication
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rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2320.RAyuv6 rx7UQ3HDIq4UBlQEDwMjEo2Qh7hzRt1D-TAXfA
has assertion: assertion
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has publication info: publicationInfo
type: Nanopublication
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rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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version: v5.0.0.0

assertion
description: [We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR)?=?1.15, 95% confidence interval (CI)?=?1.01-1.31], rs801186 in HARS (OR?=?1.29, 95% CI?=?1.08-1.54), rs193466 in RARS (OR?=?1.17, 95% CI?=?1.02-1.35), and rs2273802 in WARS (OR?=?1.14, 95% CI?=?1.01-1.30).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24510587
was generated by: ECO_0000203

NP2321.RA9UMFbE3is5wYGyLttpG4bXVs930oPpoEOTshcS5ntcg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2322.RAmnuNZLHilERhN1-Vhz3nJyDJRmtIhVx8p2Uz gualSA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2323.RAJ9kVFCYhcb7eBXGN652jYxqw4efLwu3oiK2Ih1uNKPw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2324.RAzOkgoIPUJ1mvwq-zrHoYLpoMjJ4ps-3Ihtsbm6CGk2g
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2325.RA7qu6GKnQWNGnRH-Vwd82peT2s guFaotfMAXCnzj-vQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22573628
was generated by: ECO_0000203

NP2326.RAq5qz-w7xw-L0W1nY2ZX0HeuxUPRIBXWAurAu0OxPpVA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2327.RAUxx2D2andNRlE3Z1ECa5DwqV5hMLb5UK4qyCyaViBF8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We report that the mouse sticky mutation, which causes cerebellar Purkinje cell loss and ataxia, is a missense mutation in the editing domain of the alanyl-tRNA synthetase gene that compromises the proofreading activity of this enzyme during aminoacylation of tRNAs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16906134
was generated by: ECO_0000203

NP2328.RAYsgl78KL nJQxIUzXXxWd89bT1luQ-WUa7DSGQlzs2k
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2329.RAZFNJCMfZ8M0Rb23VH3kPxhPzW4cM0fUBpmWIf6FeF7Y
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22009580
was generated by: ECO_0000203

NP2330.RAOM31LqZAuch0z96PENr9MJo2id8wExRJw8VTSvEfAbA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [AARS mutations result in not only a CMT phenotype but also a dHMN phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22573628
was generated by: ECO_0000203

NP2331.RAIvHx-ulgvviMgZgfJLFD-L4Uo94DNhzuHGBo8eKS-8g
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20045102
was generated by: ECO_0000203

NP2332.RAPc7bJ 6CcXFr1D6uqvUjjO8262pfbaHKdFJCPnED46I
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Mutations in AARS were previously associated with an autosomal-dominant inherited form of axonal neuropathy, Charcot-Marie-Tooth disease type 2N (CMT2N).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25817015
was generated by: ECO_0000203

NP2333.RAGr9UFrkM jyD--0lg3FimJH4hfKR ItJIX2XA FRyDI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2334.RAOxzEGzLusud68UYghCp70gX4KdS7kI-tR2xCBh-s44k
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The relevance of the AARS and HSPB1 mutations in the pathogenesis of CMT2 is further highlighted.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22206013
was generated by: ECO_0000203

NP2335.RASH9PSfROVuPbG5ZQR8PfqZ40aSxKwWImDubuuIHjORg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To date six families have been reported worldwide with dominant missense alanyl-tRNA synthetase (AARS) mutations leading to clinically heterogeneous axonal neuropathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/26032230
was generated by: ECO_0000203

NP2336.RAz4FbxaNZz2B2DKFsP5uclOdOFy2-i7ZiZRp Zw3gmpc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2337.RAUVB1CAkjAihKDCFL7Wp yRW9pvk5PmeQHLtkpGPP73A
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2338.RAqqnmnU2-QuAz0ariLc4-nVXL-0ckH7wnpYH-4xeWWQU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2339.RA3iXT6yih7MjSidbTxYMMfZ3f-HhNs0QcCfH7065oBy4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25817015
was generated by: ECO_0000203

NP2340.RAr1fCeeRsg5kKhZbGTjoGpWyL-7pHCm-4XpEZJxyROp0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2341.RAyOwPjStrcw-pFLSvH61IFMRi7gbc5L84KfXD JBFOss
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2342.RAEPhndRx7H4MUrGrp7yueeETocX AfrzXZk6fokx5zqk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2343.RAYeYjlXuqdqr6TE6ULsUu26C6uOdyeaE8y-9CG6lt0LQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
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authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/26032230
was generated by: ECO_0000203

NP2344.RAH87AYZppSt5G0jX1PA6w8z3pOPJjDfNgywuhx6X L-Y
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2345.RA5UHWP6wTDe4msxUfyFRRWtsboR2WXRHLtim6fcQKRQs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2346.RAzD2uVEMpBAUvWv2KsowhjeZlY7Rx4DOVjlHMXWJEaU4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25817015
was generated by: ECO_0000203

NP2347.RAfXTDrMM7IM2ZLOgRyIyT5QIePI6-u8s9GU YvS2h69Q
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2348.RAgsVcgBcERbxcZVsfpypfCAK2hCUE16GoBRbwcTDPBRM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2349.RAP5782GTbDa9n7TM Jslcm176rCxtH-Je 8zj9eK29fM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2350.RAp-EwEPsFL5DYvAj-89Q0Upj5kPYZJDzDqxaOfofJEY4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR)?=?1.15, 95% confidence interval (CI)?=?1.01-1.31], rs801186 in HARS (OR?=?1.29, 95% CI?=?1.08-1.54), rs193466 in RARS (OR?=?1.17, 95% CI?=?1.02-1.35), and rs2273802 in WARS (OR?=?1.14, 95% CI?=?1.01-1.30).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24510587
was generated by: ECO_0000203

NP2351.RAhqDpDTxeABcKCv1uxRTE5ggGpoleaQQybgmP8KK1NvQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2352.RAT-jjni7o fK37zUnLkNADNMkEpBnxsBWMddOuCpznco
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Since the appearing of anti-Jo-1 and other anti-AARSs is related to characteristic immunogenetic and clinical features, they can be considered specific markers in diagnosis and classification of patients affected by IIM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18197801
was generated by: ECO_0000203

NP2353.RA6q7hiVryqA4vPRi9JCSxf1w n0dWlR6bx22 vb9YR-I
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2354.RAV5M5cAvHwerRKbO56p F4eZ9oGPEtM U6GLUfgi-BCs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2355.RAZzkj8A64iZMMghbm rPRW9FDrBR5YQCnnrvdfuTdBtk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2356.RAotcKhRag9OGox0ucQLopYBXHoJ0254-D79wRubf2sko
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Activation of the extracellular signal-regulated kinase 1/2 pathway by AAV gene transfer protects retinal ganglion cells in glaucoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15975850
was generated by: ECO_0000203

NP2357.RAzUqdUAHSox0Gkc9S5oJAn7cwx03vNt86iOOVk0ieD9M
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The latter is of particular interest because the AAV integration site (AAVS1) is located on the long arm of chromosome 19 and 30-40% of human glioblastoma tumors are reported to have loss of heterozygosity in this region of chromosome 19q.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12542846
was generated by: ECO_0000203

NP2358.RAlzs0E0XsGWO6zzn99wT KTRzSLNLrA12rMXtAwRHs0I
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Further, the levels of transgene expression appear to be independent of 19q allelic status or the number of endogenous AAVS1 sequences in the various glioma cell lines studied.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12542846
was generated by: ECO_0000203

NP2359.RAsTgfepxScDednplG1nP3Oh84saz QwbQ3B43QzNdCOs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [An AAVS1-targeted minigene platform for correction of iPSCs from all five types of chronic granulomatous disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25288370
was generated by: ECO_0000203

NP2360.RA2JisQfXOBSJDnrdzeTVOZAHtJecOrTJWDJixhge7M0I
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Adeno-associated viral (AAV) gene transfer of coagulation factor VIII and IX to skeletal muscle and liver of murine and canine models of hemophilia A and B have resulted in sustained systemic expression and, in several studies, in complete cure of the bleeding disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15975012
was generated by: ECO_0000203

NP2361.RABIgwkBADwegPtkqUrs2 6GV7BCiZL-97-pOD6bkq84s
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Adeno-associated viral (AAV) gene transfer of coagulation factor IX to skeletal muscle and liver of murine and canine models of hemophilia has resulted in sustained systemic expression and, in several studies, in complete cure of the bleeding disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17266422
was generated by: ECO_0000203

NP2362.RAlHFVsjbJV9c-x4KPXH0Q ZTmZTI-ai2Tu7YlpffKKvw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Vectors based on herpes simplex virus type-1 (HSV-1) permit delivery of transgenes of up to 150 kb, while the inverted terminal repeats and Rep of the adeno-associated virus (AAV) can confer site-specific integration into the AAVS1 site, which allows sustained expression of a transgene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17460718
was generated by: ECO_0000203

NP2363.RAcd9YL6dreHjoXqTvvd9ohhea1nQKm3w1DI0D eAF3Hc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Interestingly, a recent study suggests that AAV gene transfer in dystrophic dogs may require up to 18 weeks' immune suppression using a combination of three different immune-suppressive drugs (cyclosporine, mycophenolate mofetil, and anti-dog thymocyte globulin).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21967249
was generated by: ECO_0000203

NP2364.RAA69ubdv983zA8w2c7wwIPDoSDxlvtROUnxCRnwZvWsQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These results indicate the efficacy of gene delivery and demonstrate the possibility of gene therapy mediated by AAV gene transfer in this mouse model of homocystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17202841
was generated by: ECO_0000203

NP2365.RA6qMmNgXwc 6QlKuHB5SsKgCHa1MF vGxwwk lYIkLtw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Because the success of retroviral gene therapy for X-CGD has been hampered by insertional activation of proto-oncogenes, targeting the insertion of a gp91phox transgene into potential safe harbor sites, such as AAVS1, may represent a valid alternative.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/26295532
was generated by: ECO_0000203

NP2366.RA1brF7LObsVw5vopNgQwyfuQnGzx075RNvpbcGbdxuq4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Zinc finger nuclease-mediated gene targeting of a single-copy gp91(phox) therapeutic minigene into one allele of the 'safe harbor' AAVS1 locus in X-CGD iPSCs without off-target inserts resulted in sustained expression of gp91(phox) and substantially restored neutrophil ROS production.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21411759
was generated by: ECO_0000203

NP2367.RAji0zdc4jrtY5CDbj59oAXdNZ0MxS58EB1IVoz9OXZKM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [This study demonstrates that AAV-mediated TPP1 enzyme replacement corrects the hallmark cellular pathologies of cLINCL in the mouse model and raises the possibility of using AAV gene therapy to treat cLINCL patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16452657
was generated by: ECO_0000203

NP2368.RAR4T4egfdhv-Zk9qRXltlH5sMEd696ukdURoDKgQnBOo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [For the first time, efficient AAV gene transfer into human CML cells could be shown, with the potential for future clinical application.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21323526
was generated by: ECO_0000203

NP2369.RARYYuKgJgvRs4NS61i-Dtd85kjVfABdcgXuBwkXf1CAY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The aim of this study was to attain long-lasting alpha-sarcoglycan gene expression in limb-girdle muscular dystrophy, type 2D (LGMD2D) subjects mediated by adeno-associated virus (AAV) gene transfer under control of a muscle specific promoter (tMCK).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21031578
was generated by: ECO_0000203

NP2370.RAfFJY2Od3R0YJBlM3pBJzGg-Nt2pMpGSIHrKWS3Z3OeQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Mucopolysaccharidosis-like phenotype in feline Sandhoff disease and partial correction after AAV gene therapy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25971245
was generated by: ECO_0000203

NP2371.RAY9TjsrIVzedi9qhyAA6MV7spgRqbAlkxY1lU8saUyIs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In this study, we used zinc finger nucleases and integrase-defective lentiviral vectors to demonstrate for the first time that FANCA can be efficiently and specifically targeted into the AAVS1 safe harbor locus in fibroblasts from FA-A patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24859981
was generated by: ECO_0000203

NP2372.RA0UrrlRy1GOpG93d2o2nbru61m4oWmtailmC-L4kGYQU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Adeno-associated virus (AAV) gene therapy for neurological disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22465202
was generated by: ECO_0000203

NP2373.RAX8tkdFAZcm 0oNVEBgjZpM9h1fLchKpLNZdosqqFbNk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To identify potential toxicities, we consulted the existing evidence from AAV gene therapy for other nervous system disorders (animal toxicology and human studies) and from the clinical pharmacology of conventional analgesic drugs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25183392
was generated by: ECO_0000203

NP2374.RAU4gcJb-cJVe2U1FAQWe 8tbLyrpKPmrhTRmiXw7VcUo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Sustained relief of neuropathic pain by AAV-targeted expression of CBD3 peptide in rat dorsal root ganglion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24152582
was generated by: ECO_0000203

NP2375.RA92GUdmK6Ba0YKJjctgqNSRJmZBOoWXlwtbx3EWS5bzw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The aim of present study was to characterize the site-specific profile and metabolic effects of Ex-4 levels expressed from salivary glands (SG) in vivo, following adeno-associated virus-mediated (AAV) gene therapy in two different animal models of obesity prone to impaired glucose tolerance and T2DM, specifically, Zucker fa/fa rats and high fed diet (HFD) mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22808093
was generated by: ECO_0000203

NP2376.RAbno6sgOs phgiSS29BKPK-1bkHwJ8GEzv-txRSpyvbo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These results suggest that expression of a therapeutic transgene can be controlled by the presence of inflammation following AAV gene transfer, making it an attractive vector for chronic inflammatory diseases such as RA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16802345
was generated by: ECO_0000203

NP2377.RAKcq0gQYK2RPLVPzavagHB5sgLyx5bN FNrpLZidfPbA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Finally, we tested our best candidate by AAV gene transfer in a mouse model of retinitis pigmentosa that expresses a mutant allele of the human rhodopsin gene, and demonstrated the feasibility of trans-splicing in vivo.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25619725
was generated by: ECO_0000203

NP2378.RA72b9DNY7gWQVdFME4DHSwydzkbgwA7r-APxo6Yo68Og
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Mucopolysaccharidosis-like phenotype in feline Sandhoff disease and partial correction after AAV gene therapy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25971245
was generated by: ECO_0000203

NP2379.RA3mOqNcoKj9v84RLWGq2o-zVk4vitufjT4rJ4QswOzCs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Adeno-associated virus (AAV) gene therapy achieved global CNS Hex restoration and widespread normalization of storage in the SD mouse model.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25474439
was generated by: ECO_0000203

NP2380.RAnaSUpX4t242l4MzzNxvZ7CrLbliWwp0jviGQKhmy08g
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The two independent AAVS1, CAG, and enhanced green fluorescent protein (EGFP) hiPS cell reporter lines that we have developed do not show silencing of EGFP either in undifferentiated hiPS cells or in randomly and lineage-specifically differentiated cells or in teratomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24833591
was generated by: ECO_0000203

NP2381.RA79NFkis6dgjm6oc8ZUJ9s0U5OclYZdBXWb7XDgQFQDM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Sustained relief of neuropathic pain by AAV-targeted expression of CBD3 peptide in rat dorsal root ganglion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24152582
was generated by: ECO_0000203

NP2382.RAm1zGVg U7BM7vOWeyJEH7qawSa8VBf7DZXVSTPP78EY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Activation of the extracellular signal-regulated kinase 1/2 pathway by AAV gene transfer protects retinal ganglion cells in glaucoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15975850
was generated by: ECO_0000203

NP2383.RANBspLKv7GyG5WmQitvhn EiWXm 8UUHV2zPmyrQ5ObI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Adeno-associated viral (AAV) gene transfer of coagulation factor VIII and IX to skeletal muscle and liver of murine and canine models of hemophilia A and B have resulted in sustained systemic expression and, in several studies, in complete cure of the bleeding disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15975012
was generated by: ECO_0000203

NP2384.RAHlzVzpeodXXXIEB8TBm8v3KLpbInycYErY-5K QuAtc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Adeno-associated viral (AAV) gene transfer of coagulation factor IX to skeletal muscle and liver of murine and canine models of hemophilia has resulted in sustained systemic expression and, in several studies, in complete cure of the bleeding disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17266422
was generated by: ECO_0000203

NP2385.RA9A2ZzEXCGrEWf0TfGvvFcbD 2ed9t6meQOpwhAxo A
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A murine model of CTLN1 (fold/fold) that displays lethality within the first 21 days of life was used to determine the efficacy of adeno-associated viral (AAV) gene transfer as a potential therapy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24131980
was generated by: ECO_0000203

NP2386.RAU4 xS9xfXCn5Sc6B nzrpjG36asVobt8-KHYvYZYOhs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These results support the feasibility and safety of AAV gene therapy for AAT deficiency, and indicate that serum levels of vector-derived normal human AAT >20??g/ml can be achieved.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21609134
was generated by: ECO_0000203

NP2387.RA6Ut5ccHz4vg8fYP2CmppNRUsOEe7 jc5LkYg6fGS7gg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The present review summarizes the progress on AAV gene delivery models for three different CNS disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19072910
was generated by: ECO_0000203

NP2388.RAM-ZCFEEwLPF-y-akVzB3kqb6TYlP1q6BMuxRSxeOgBo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Safety of AAV factor IX peripheral transvenular gene delivery to muscle in hemophilia B dogs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20424599
was generated by: ECO_0000203

NP2389.RAm--mi4d GQXF6jRC-vo8 S1So7-pTIVLuWuiQ9yr0wg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In this article we review the current state of AAV mediated gene therapy for hemophilia B in the clinic, detail progress since the first successful trial, and discuss alternative approaches from the AAV gene therapy field.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/26524468
was generated by: ECO_0000203

NP2390.RAElem2D5QsdY8abQ5sN7pJQ9jNGfTii8exr3G07mlcTA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Role of the vector genome and underlying factor IX mutation in immune responses to AAV gene therapy for hemophilia B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24460861
was generated by: ECO_0000203

NP2391.RAsqvLyQOnoJ cRHneRmJ8f3EMWS-DMELEYB03Jcg-9Qc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Vector capsid dose-dependent inflammation of transduced liver has limited the ability of adeno-associated virus (AAV) factor IX (FIX) gene therapy vectors to reliably convert severe to mild hemophilia B in human clinical trials.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25419787
was generated by: ECO_0000203

NP2392.RAn1G7SdPMorSU-cNA5687ASaQROQLpCWff4HEvSLJLsg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The aim of present study was to characterize the site-specific profile and metabolic effects of Ex-4 levels expressed from salivary glands (SG) in vivo, following adeno-associated virus-mediated (AAV) gene therapy in two different animal models of obesity prone to impaired glucose tolerance and T2DM, specifically, Zucker fa/fa rats and high fed diet (HFD) mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22808093
was generated by: ECO_0000203

NP2393.RApMLdUEh8no0cV6k24mDMJlchpbl05GAY0fzoQysoQdw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We report here the correction of ?-thalassemia major hydrops fetalis in transgene-free iPS cells using zinc finger-mediated insertion of a globin transgene in the AAVS1 site on human chromosome 19.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23002118
was generated by: ECO_0000203

NP2394.RASl11bQMzXL4Xs0HuqleQC7MEbA9M5zqqpFyxEQ1MC5c
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We have previously demonstrated the efficacy of systemic adeno-associated viral (AAV) gene delivery as a treatment for MMA in a murine model and therefore sought to survey AAV antibody titers against serotypes 2, 8, and 9 in a group of well-characterized MMA patients, accrued via a dedicated natural history study ( clinicaltrials.gov ID: NCT00078078).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/26790480
was generated by: ECO_0000203

NP2395.RAeUqUi 54FLI6v54 7-vD1uMeNWhxkF2nI15jGLJzX6M
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To circumvent this, we developed a method to modify neurons with the genetic sequence for therapeutic monoclonal antibodies using adeno-associated virus (AAV) gene transfer vectors, directing persistent, local expression in the tumor milieu.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25501993
was generated by: ECO_0000203

NP2396.RAYqfUk0U6x3QDQXYOUI9WFy8pSEESdBreqqaoWLkTyWI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Transplanting cardiomyocytes from an engineered AAVS1-CAG-EGFP hiPS cell line in a myocardial infarcted mouse model showed persistent expression of the transgene for at least 7 weeks in vivo.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24833591
was generated by: ECO_0000203

NP2397.RA7ix5yAcWGyOYJ0N0DLsnqE3L8Pu261RJYf9whmqTlOY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These studies provide novel insights into AAV gene expression, and this newly described promoter allows for the production of AAV vectors expressing CFTR in those differentiated cells affected in CF.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/7679117
was generated by: ECO_0000203

NP2398.RAn1xJOOjlRZF-sErRtGB6TITNwU K2bzD-aFydHOTK o
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We investigated whether CF sputum acts as a barrier to leading adeno-associated virus (AAV) gene vectors, including AAV2, the only serotype tested in CF clinical trials, and AAV1, a leading candidate for future trials.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24869933
was generated by: ECO_0000203

NP2399.RAM-kG9pGcpIAW3 UXW5KX2GIkco-UUfCeuwahqjc QcM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We developed a new model of cardiac tissue-specific transgenic-like mice on the basis of AAV gene transfer to test the potential of a combination of a human PKP2 mutation and endurance training to trigger an ARVC-like phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25857910
was generated by: ECO_0000203

NP2400.RA5cJSxNvvC03Wg7RFI HfnVVukCvv5VcUNbPLOVNmeg0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [This study suggests a potential therapeutic role for AAT in preventing type I diabetes as well as the ability of AAV gene therapy-based approaches to ameliorate disease effectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/14712302
was generated by: ECO_0000203

NP2401.RAVDpCgx9BZILSPOMrls-3ipbT4Ay8khDHy7KSGiqyiRc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The aim of present study was to characterize the site-specific profile and metabolic effects of Ex-4 levels expressed from salivary glands (SG) in vivo, following adeno-associated virus-mediated (AAV) gene therapy in two different animal models of obesity prone to impaired glucose tolerance and T2DM, specifically, Zucker fa/fa rats and high fed diet (HFD) mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22808093
was generated by: ECO_0000203

NP2402.RAknBCn6NrPaHUyCQ8LPiwysZ9V85PcoFFbXAYLkdfcUU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Following adeno-associated virus (AAV) gene transfer, robust microgene expression is achieved in murine DMD models in the absence of immune suppression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21967249
was generated by: ECO_0000203

NP2403.RAF533T VSb7UNV9 Eg yw8htlv7jgcLIrxPwqfcog5Wk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [However, AAV gene therapy for DMD remains a significant challenge.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/26414293
was generated by: ECO_0000203

NP2404.RA3gjmqQ7EYYa6C4nQEGPX0elZAE7cOuCWHszEFbxXPYk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Therefore, the potential presence of viral particles in axons may not represent an important safety issue for AAV gene therapy applications in neurodegenerative diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23600720
was generated by: ECO_0000203

NP2405.RAhT02BDm-1ikGzDPqhGbesVNBZXPDLdPUoXe6WS4CZxw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Adeno-associated viral (AAV) gene transfer of coagulation factor IX to skeletal muscle and liver of murine and canine models of hemophilia has resulted in sustained systemic expression and, in several studies, in complete cure of the bleeding disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17266422
was generated by: ECO_0000203

NP2406.RAuBUEHGT7kfxlarQO3lh3tYvCGB6hVrlr7f60943-U1Y
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The results presented in this report show promise for AAV gene therapy for LGMD, but underscore the need for intervention early in the time course of the disease process.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10933922
was generated by: ECO_0000203

NP2407.RAZWTwuJXhqq6fsyFQnuUg2pngQcoXrPMDAzhvD63nOh4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In this study, we used zinc finger nucleases and integrase-defective lentiviral vectors to demonstrate for the first time that FANCA can be efficiently and specifically targeted into the AAVS1 safe harbor locus in fibroblasts from FA-A patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24859981
was generated by: ECO_0000203

NP2408.RAlvFFksvGUlZdUvt3LE8pD6aXAvMx61aSC8KP4vNAqKA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Activation of the extracellular signal-regulated kinase 1/2 pathway by AAV gene transfer protects retinal ganglion cells in glaucoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15975850
was generated by: ECO_0000203

NP2409.RA0xNkpeZPIysjQGrFY1eIXDY6tOCpOkCl2r1dXmaRfxQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Sustained relief of neuropathic pain by AAV-targeted expression of CBD3 peptide in rat dorsal root ganglion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24152582
was generated by: ECO_0000203

NP2410.RAJ8v-MRCZ1lSOsdyUkei8F8mxvHXPeNemvmsF2Wsm9mM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Adeno-associated virus (AAV) has been the vector of choice in recent clinical trials of neurological disease, including Parkinson's and Alzheimer's disease, due to the safety, efficacy, and stability of AAV gene transfer to the CNS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22465202
was generated by: ECO_0000203

NP2411.RApEx-nHgIxm4hgsmBE48AI2kLVNy-DSLJ1Q2FyBgqEjE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [4-aminobutyrate aminotransferase (ABAT): genetic and pharmacological evidence for an involvement in gastro esophageal reflux disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/21552517
was generated by: ECO_0000218

NP2412.RAsPeCyY6hKvDuelsjU2mKArC94KLAHjWU1Y3tHXfH4I0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [4-aminobutyrate aminotransferase (ABAT): genetic and pharmacological evidence for an involvement in gastro esophageal reflux disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21552517
was generated by: ECO_0000203

NP2413.RA9qe ektNOCHpFIL0CeclPwrcH4AhZBwLSUJJE8a9a3g
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In contrast, other BZ-binding site ligands, such as 6-(2bromophenyl)-8-fluoro-4H-imidazo [1,5-a][1,4] benzodiazepine-3-carboxamide (imidazenil), which fail to allosterically and positively modulate the action of GABA at GABA(A) receptors with alpha(1) subunits but that selectively allosterically modulate cortical GABA(A) receptors containing alpha(5) subunits, contribute to the anxiolytic, antipanic, and anticonvulsant actions of these ligands without producing sedation, amnesia, or tolerance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15864560
was generated by: ECO_0000203

NP2414.RAkBs5C2dJB4TVSiPh4xyvB0IP6du6ld41UCdLrNhc0Bk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2415.RAS4sHM-b1Ounobh6w9jI4 UzjIymUD3kUI07dljcRD08
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Inhibitors of GABA metabolism: implications for Huntington's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: http://identifiers.org/pubmed/152600
was generated by: ECO_0000218

RGD
imported on: 2017-01-25

NP2416.RADImK0Fk-7RvlAZdlgzGqZxSlxnuygCKf7Xf2glXcr38
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: pubmed
was generated by: ECO_0000218

NP2417.RA3uPtvHSbiidsmJSMhOwAvzNTHtrkEyBKlyG2K1KafOE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Mechanism of GABA involvement in post-traumatic trigeminal neuropathic pain: activation of neuronal circuitry composed of PKC? interneurons and pERK1/2 expressing neurons.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: http://identifiers.org/pubmed/24890317
was generated by: ECO_0000218

NP2418.RAOme02mGpobPjE3qRzbiCP7r-LHTQcsYy2SFX6 GiDqA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: pubmed
was generated by: ECO_0000218

NP2419.RATdgGHHWl0g2KvDfcZE6VyD3vn2Se136415yDia79m-Q
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: pubmed
was generated by: ECO_0000218

NP2420.RAFexbXKyF9dRvTjknz6ehRuMUKbeBHo0aU7rRSBcopVo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/10407778
was generated by: ECO_0000218

NP2421.RADTyUavUuDVDE3Hu78NIzMy3Xh9fa-8MylOiTeXlJN-o
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: pubmed
was generated by: ECO_0000218

NP2422.RAPKnvJRVENgGinSQik-8MLXIOjhjvw8mpAPJ8AueUtPg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: pubmed
was generated by: ECO_0000218

NP2423.RAikaM39dla4lCeclHO80pgMLS4ixO3EYS2oErlb0Biuk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Anorectic potency of inhibiting GABA transaminase in brain: studies of hypothalamic, dietary and genetic obesities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: http://identifiers.org/pubmed/6534893
was generated by: ECO_0000218

NP2424.RA78wd 86dJk0TWDAy8LSgvurjpSY0b7X49EFbPWAh6GQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Systems level analysis and identification of pathways and networks associated with liver fibrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/25380136
was generated by: ECO_0000218

NP2425.RA9kHYdN0vnVa6Z2wDJNCq85o4jNRT5RVrH2FZ4I70Dc4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: pubmed
was generated by: ECO_0000218

NP2426.RATRxr0h5Npaf6mQj9tEnKyhla2ULUC3UsQkpMqmWR-K0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/10407778
was generated by: ECO_0000218

NP2427.RAEZhqDNbEeUwJIRCj3A9adAGZOgPThB0DzfuPqkLtneE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
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rights holder: IBIGroup
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version: v5.0.0.0

assertion
description: [An approach based on a genome-wide association study reveals candidate loci for narcolepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20677014
was generated by: ECO_0000203

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version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

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type: Nanopublication
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2430.RANzS64BLn8Jum7nNZ-BVHoaFThScc16zoxd2BkQhggBc
has assertion: assertion
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has publication info: publicationInfo
type: Nanopublication
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rights holder: IBIGroup
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/10407778
was generated by: ECO_0000218

NP2431.RAuohk-bwwouzfkZzwV bfOjKGxh65 a69CMz vNGffgc
has assertion: assertion
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type: Nanopublication
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rights holder: IBIGroup
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used data: disgenetv3.0rdf
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/10407778
was generated by: ECO_0000218

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rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20659789
was generated by: ECO_0000203

NP2433.RAZc9EFBdRc89DYzEkAgvtHf0yYdjysoXkwWVgi4rAUpw
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type: Nanopublication
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rights holder: IBIGroup
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authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2434.RArO4BFcJVaP nXy15aGzI0wfdVwpit-2-zOJ2WswNBOc
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rights holder: IBIGroup
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used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Identification of a median thalamic system regulating seizures and arousal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: http://identifiers.org/pubmed/2753001
was generated by: ECO_0000218

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has assertion: assertion
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type: Nanopublication
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rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/10407778
was generated by: ECO_0000218

NP2436.RAHrDyrAC3I2UVR1hL7QlNMmXuPx Nibe8I-dj9LkNHgY
has assertion: assertion
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has publication info: publicationInfo
type: Nanopublication
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rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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authored by: 0000-0002-9383-528X
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version: v5.0.0.0

assertion
description: [Anticonvulsant activity of Benkara malabarica (Linn.) root extract: In vitro and in vivo investigation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: http://identifiers.org/pubmed/20109543
was generated by: ECO_0000218

NP2437.RA1rtV143xh1JWtNyHXzKDTP4eftpScIsr xG7LfdvfMg
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type: Nanopublication
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rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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version: v5.0.0.0

assertion
description: [Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/15830322
was generated by: ECO_0000218

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type: Nanopublication
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rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15830322
was generated by: ECO_0000203

NP2439.RAdCmQWUFevS666YHxeb9TR78QD1ynE9aRuUdfJ 5Sd8c
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type: Nanopublication
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rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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version: v5.0.0.0

assertion
description: [Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19598235
was generated by: ECO_0000203

NP2440.RAtLWBV-SgU -UssJ6mXpqHjgbCFexK5EOnlIO9bl4ow
has assertion: assertion
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type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Infantile spasms (IS) have poor outcomes and limited treatment options, including vigabatrin, a ?-aminobutyric acid (GABA) aminotransferase inactivator.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: http://identifiers.org/pubmed/24321005
was generated by: ECO_0000218

NP2441.RA0-S7BM8GEXfIIsvaXLKsxWWGZx7wY4TJV84XpIXQfB4
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type: Nanopublication
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rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Vigabatrin, a GABA transaminase inhibitor, reversibly eliminates tinnitus in an animal model.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: http://identifiers.org/pubmed/17221143
was generated by: ECO_0000218

NP2442.RAhdceLxW8EOKdBwtooGL-bRqoYtWV7WgWB6fnQkLmADY
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rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20379614
was generated by: ECO_0000203

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rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2444.RALzBmWv82G2fqiJ-saTdcNkK3LHNXc4Vb23RRn0gjwF0
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rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2445.RAByZ1kREGGWbuh3FRU0Mgl -evJWG4AwbQpSH0jieohE
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rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [(1S, 3S)-3-amino-4-difluoromethylenyl-1-cyclopentanoic acid (CPP-115), a potent ?-aminobutyric acid aminotransferase inactivator for the treatment of cocaine addiction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: http://identifiers.org/pubmed/22128851
was generated by: ECO_0000218

NP2446.RA6PqabRIZf0hRwq1vCNEY4stPE7rfgQ HgnF7Phkfjdo
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rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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authored by: 0000-0002-9383-528X
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authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: pubmed
was generated by: ECO_0000218

NP2447.RAywmyakh3-rp1SmJCk-a1Y1-pOlDhBP P7D-pK309slE
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rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Assessment of the treatment effect of baicalein on a model of Parkinsonian tremor and elucidation of the mechanism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: http://identifiers.org/pubmed/22634324
was generated by: ECO_0000218

NP2448.RAszd9D8qykGlb1znQuEUOoZmJddLffHo3Mp8drZOdFn4
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rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
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authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: pubmed
was generated by: ECO_0000218

NP2449.RAaiyaY4UFVIOoPwFp3fXHwVEQ3pf1AwPJewMRcnV6wJA
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created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/10407778
was generated by: ECO_0000218

NP2450.RAIxXorhwp7QZilO2FQgTJ9syM0xJDtM1PIkIiijiqcQ4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/10407778
was generated by: ECO_0000218

NP2451.RAQkrcABDD21AWePKPmZ gXstfgny1vnDhI61ILJYjz48
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: pubmed
was generated by: ECO_0000218

NP2452.RA0hczjF7ADuwlzDF4Qi4hYHJE8XU E1q7O3ItvLzY0Cc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Enhanced GABAergic tone in the ventral pallidum: memory of unpleasant experiences?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: http://identifiers.org/pubmed/21914462
was generated by: ECO_0000218

NP2453.RAe6Uv9 C Rp5LhuYUh6kacfLc5lthaxouiH49NX8uA9Y
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: pubmed
was generated by: ECO_0000218

NP2454.RAoJ58sBke0m5szybblZHs2SYebBclkHDCj3vlJmHdK3E
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18334916
was generated by: ECO_0000203

NP2455.RAqwG13GaZJfDbkc60Um0YiKk HRiSsAYDy5OwFXNVVzA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [An analysis of the cortical and striatal involvement in dyskinesia induced in rats by intracerebral injection of GABA-transaminase inhibitors and picrotoxin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: http://identifiers.org/pubmed/6445277
was generated by: ECO_0000218

NP2456.RAXyawqWH2u cTa0OqkzGVePWItc-5JigCr4OG-w5Hm8E
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Variants within the GABA transaminase (ABAT) gene region are associated with somatosensory evoked EEG potentials in families at high risk for affective disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22225676
was generated by: ECO_0000203

NP2457.RA846fV--C2KtLyqyM-E6NWnoK1AosnRx4CIFpMG8hNE0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2458.RACwF2b54SU3vhX-mh1s8NiwP1pba6lAvNNY4NGT-vrtc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2459.RAACH-K W2JP80nX1wHLBIV03mjtYsHVA3pDj8sA5obaA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These results suggest that neither low plasma GABA at baseline nor altered plasma GABA response to diazepam is associated with increased genetic risk for alcoholism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8730228
was generated by: ECO_0000203

NP2460.RAkeRu4j9jwdMG4mDwtryNwQXWt3FU-UZMOyX9vyVFVWE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Greater HSPC mobilization and extramedullary hematopoiesis were reversed by raising HDL levels in Abca1(-/-)Abcg1(-/-) and Apoe(-/-) mice or in a mouse model of myeloproliferative neoplasm mediated by Flt3-ITD mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22862945
was generated by: ECO_0000203

NP2461.RAlecswCH7ZWCehR5dTcecBL5Dsm8Un4Up8tuZDCmr0RA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic heterogeneity of membrane-bound beta-glucosidase in Gaucher's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/6785517
was generated by: ECO_0000203

NP2462.RAiDZ8TbLgpJuyBw79orCg-GmmTl7PzH7hGzXyBccx8sk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Membrane-bound (MUC1) and secretory (MUC2, MUC3, and MUC4) mucin gene expression in human lung cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8638091
was generated by: ECO_0000203

NP2463.RA-0vBRwOCfEi1Z3KZvcnjpElALV2IwKYSCqMKgCPQcs8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our results demonstrate that soluble inhibitors produced by NSCLC cells may provide further protection from complement beyond the level ensured by membrane-bound inhibitors and, as such, contribute to the aggressive phenotype of these lung cancer cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17548110
was generated by: ECO_0000203

NP2464.RAj2XbH1Rkpfskm6MtxIEi666wKEpY81yzi-6vDFjVjNY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Here we document a novel function of TIB using fresh human lung cancer tissues engrafted in SCID mice; they are at activated state and produce tumor-specific antibodies in tumor microenvironment: (a) TIB engrafted in SCID mice produced human IgG; (b) IgG derived from TIB highly bound intracellular and membrane-bound antigens of autologous cancer cells; and (c) less recognition of autoantigens expressed on normal lymphocytes by IgG derived from TIB compared with IgG from the serum of the patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11912150
was generated by: ECO_0000203

NP2465.RA-1q4eYkeoz1E4nMAdAxctP44r3XuHjKvb CNtGdFOoU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In addition, ABCA1 is highly expressed in the ganglion cell layer of the retina, a finding consistent with it having a role in the development of glaucoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25173107
was generated by: ECO_0000203

NP2466.RADIW-fNRGjBtmEZiSSoZbSqE0ENLkShjIO4BKtzJjrt4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Evaluation of the Association Between Common Genetic Variants Near the ABCA1 Gene and Primary Angle Closure Glaucoma in a Han Chinese Population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/26431478
was generated by: ECO_0000203

NP2467.RATq RBP8cPqaGZFOAENfYy6N27fMKDQdkc5VygU9iwAE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our findings indicate that de novo SL synthesis, S1P receptor-mediated signaling, and ABCA1-mediated S1P efflux could provide pharmacological targets to interfere with glioma cell proliferation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/26002572
was generated by: ECO_0000203

NP2468.RAmmGDWeFXxN29fUluUZOgytI iPonN5XwYM8L5sW0W80
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The localization of the soluble gelatinase B indicates an association with neovascularization, whereas membrane-bound MMPs may account for the invasive potential of the glial tumor cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11398836
was generated by: ECO_0000203

NP2469.RANCcaJXAuF2bf7y1ufap5Bl7z8wU-O4Dsxygu7PhHZ6E
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In MSC/glioma coculture, PDGF-BB mRNA and the corresponding proteins (soluble and membrane bound forms) as well as the receptors were found to be significantly downregulated when compared with that of glioma cocultured with normal human astrocytes or glioma monoculture.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23034897
was generated by: ECO_0000203

NP2470.RA8K6OrdNShNmRe9wMqVEz1vKEfKXv0TA-XawVtBkNRYU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Importantly, sera from GSD-Ia mice are more efficient than sera from control littermates in promoting SR-BI- and ABCA1-mediated cholesterol effluxes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16098970
was generated by: ECO_0000203

NP2471.RAJtpsqTpmgvAxOfrnpJoanP1NVh5IFQb9yPmEnprvQJM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Histologic manifestations in glycogen storage disease type IV typically consist of intracytoplasmic non-membrane-bound inclusions containing abnormally branched glycogen (polyglucosan bodies) within hepatocytes and myocytes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22305237
was generated by: ECO_0000203

NP2472.RA0-9FbH9EMAEvWXiF9fjJglUkXGH3sraIEB7nmK8Ge c
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Fibroblast-Activation Protein-? (FAP) is a membrane-bound serine protease that is expressed on the surface of reactive stromal fibroblasts present within the majority of human epithelial tumors but is not expressed by normal tissues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19417147
was generated by: ECO_0000203

NP2473.RAQOvfEuzyPEMWrsaBDZaaTR3yHCwi77uhNscoWrGLdHM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The development of inhibitors of insulin-regulated aminopeptidase (IRAP), a membrane-bound zinc metallopeptidase, is a promising approach for the discovery of drugs for the treatment of memory loss such as that associated with Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21348480
was generated by: ECO_0000203

NP2474.RAuDwEKLX mqhrzH0keENB0xaHbMkQPgcqaIgQEtyZCnk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Alpha-thalassaemia caused by alpha-globin gene termination codon mutations (alphaT-globin) has been explained by their inherent mRNA instability and by oxidative damage arising from the presence of membrane-bound alphaT-globin chains.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16409302
was generated by: ECO_0000203

NP2475.RAlKfXucruZ8x32m3W1-sdQJoiG6xNGaefnIXn94NoHpw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Single Nucleotide Polymorphism in ABCA1 is associated with susceptibility to radiation dermatitis in breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18927311
was generated by: ECO_0000203

NP2476.RAcmWIyxsWBFBCmrFmNAPepD9ClNcFK-c7pSaJOYIp4vo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [IL12RB2 and ABCA1 genes are associated with susceptibility to radiation dermatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18927311
was generated by: ECO_0000203

NP2477.RAkCNuYfPfi nkA ozOKQhCxVwKqipyJkSZBaiCIvv-yY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In order to study the role of ST3Gal-I in mammary tumor development, we developed transgenic mice that over-express the sialyltransferase under the control of the human membrane-bound mucin 1 promoter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20534593
was generated by: ECO_0000203

NP2478.RAep4-AceioJ6KbU7inMDJaV2xw5a6TQReVnEyaRVsxMk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Membrane-bound complement-regulatory proteins expression was evaluated using real-time PCR (RT-PCR) and flow cytometry, whereas Her2/neu expression and c-erbB2 gene amplification were assessed using immunohistochemistry, flow cytometry and fluorescent in-situ hybridisation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22531721
was generated by: ECO_0000203

NP2479.RA79aZ9 6Bju12hEpyyTwOTjh5h2KPyfAIroEXGRtDS-c
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Patients with chronic granulomatous disease (CGD) are defective in one of the phagocyte oxidase (phox) components, p47-phox or p67-phox, which reside in the cytosol of resting phagocytes, or gp91-phox or p22-phox, which constitute the membrane-bound cytochrome b(558).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10627478
was generated by: ECO_0000203

NP2480.RAVU2UfDwFRZ4MzmxggmUmme7GLiP0n36xbHs4WBCtSYk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Patients suffering from chronic granulomatous disease (CGD) are defective in one of the following components: p47-phox and p67-phox, residing in the cytosol of resting phagocytes, and gp91-phox and p22-phox, constituting the membrane-bound cytochrome b558.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8182143
was generated by: ECO_0000203

NP2481.RAW244-UlM4P8xa0SnoYzZ2UGTIAa8cf8VHlzgby45cUE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Mutations resulting in CGD have been shown to occur in only four genes, thus identifying the main components of the oxidase complex, namely the two subunits of a membrane-bound cytochrome b and two cytosolic factors of activation of 67 kD (p67phox) and 47 kD (p47phox).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/7803798
was generated by: ECO_0000203

NP2482.RAQlPbMgxyLKH5xMZ8023wQ8dzYUHVGwycu1hVi8kBg70
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Chronic granulomatous disease (CGD) results from defects in the phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase, central to which is the membrane-bound cytochrome b-245.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/7919388
was generated by: ECO_0000203

NP2483.RAgXFavMTkx4v0Rv49e-BI ZJ883EMnx-f1nO0QZnT7rA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Analysis of three patients with X91 CGD revealed that different mechanisms of molecular quality control lead to the common phenotype of absence of mature membrane-bound NADPH oxidase complex in leukocytes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11997079
was generated by: ECO_0000203

NP2484.RADhYNqCWS1b9MPGpzJZFmQbQNx0dAz9OA043fmkcaz7s
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Prostate specific membrane antigen (PSMA), is a unique membrane bound glycoprotein, which is overexpressed manifold on prostate cancer as well as neovasculature of most of the solid tumors, but not in the vasculature of the normal tissues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/14755683
was generated by: ECO_0000203

NP2485.RAci6lbj6ZLnN78Bbi7fwuHspVp1 GAt-Lk4RzD2aIpL4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The ratio of membrane-bound form Flt-1 mRNA to VEGF mRNA correlates with tumor angiogenesis and prognosis in non-small cell lung cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16530326
was generated by: ECO_0000203

NP2486.RAUqapYm0XxOTuBV5cfLhi5hNcpelUVprUF5NozERs3l0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [It is important to confirm whether known loci have a consistent effect across ethnic groups. We show replication of 5 Caucasian genome-wide association studies lipid associations in Mexicans. The remaining loci will require a comprehensive investigation t]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20160193
was generated by: ECO_0000203

NP2487.RAqn1ozjtutmvpBfUDgXm2ZoZerzc5bS0makcbB9KoEuE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2488.RA6o1KpjRyIs4E9XjTJL-yG4OmXc5LgaTEIs4erBriG38
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Thus, we evaluated the immunofluorescence pattern of TRAIL-receptors and E-cadherin to assess the fraction of membrane-bound TRAIL-receptors in 231 selected patients with early-stage CRC undergoing surgical treatment only.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23284732
was generated by: ECO_0000203

NP2489.RAm-OvmtZaeZXzfyYGvKq0oApmMp34WUPxF199Bkwt63g
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Expression of membrane-bound Fas ligand (FasL) by colorectal cancer cells may allow the development of an immune-privileged site by eliminating incoming tumour-infiltrating lymphocytes (TILs) in a Fas-mediated counter-attack.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12950016
was generated by: ECO_0000203

NP2490.RAJqVR1spzMglyRuPws9uMu8xAk3W0FM-OvZWiRTFAA7I
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Vangl proteins are thought to assemble with other PCP proteins (Dvl, Pk) to form membrane-bound PCP signaling complexes that provide polarity information to the cell.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20329788
was generated by: ECO_0000203

NP2491.RA4PdknQg2V8J94qsFQM14s0HsOvaAWvPlrHJ5LhOyecQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In view of future clinical studies using membrane-bound TRAIL, our results highlight a strategy to rescue patients with primary or acquired resistance due to the lack of DR5 expression in tumor vasculature.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23605004
was generated by: ECO_0000203

NP2492.RAMdg9sUKOXfqCobUWdUc4YhHt04qMCJkXACYwPMzjfAw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Here, we assayed the key Th2 cytokine, IL-4, and its soluble and membrane-bound receptor in patients with SAR before and after SIT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25130266
was generated by: ECO_0000203

NP2493.RAqLi5WErMybiLefS pj tUUYOVHVPzz8XyiKC5KM8tJw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Normal prostate tissue displayed a membrane-bound ATP12A staining with focal accumulated pattern, whereas in the benign prostate hyperplasia (BPH) and cancerous prostate tissue (tumor grade I-III) the protein appears to be displaced in the luminal cells of the glandular epithelium.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22179016
was generated by: ECO_0000203

NP2494.RAZ86ZI1cXjLVbTZkomI3BK1yGTgBBAEkOQGd5XkhvbgA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In human prostate biopsy samples, ABCA1 mRNA expression was ?2-fold higher in the androgen deprivation therapy group than in subjects with benign prostatic hyperplasia or pretreatment prostate cancer groups.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20671065
was generated by: ECO_0000203

NP2495.RAExMrRIv1xuvaPdYHcB0uLUE1ISlfW2Amek4ClfTCB s
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10998475
was generated by: ECO_0000203

NP2496.RAaQ9k8eRio9dXKcW43I61Z2we GSaVNZyytpZyeJJfJw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Promoter haplotype of a new ABCA1 mutant influences expression of familial hypoalphalipoproteinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16225879
was generated by: ECO_0000203

NP2497.RA7Jf xCsrcILel6DBioP-Gn-IhsT9W8mktmD6DB8p0Qo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Recent studies have implicated mutations in the ATP-binding cassette transporter A1, ABCA1, as a cause of Tangier disease (TD) and familial hypoalphalipoproteinemia (FHA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/14576201
was generated by: ECO_0000203

NP2498.RA1iC32AYMzUe8-wAyUbVrQV6LMk9ttFCCsy5ekUUYo8U
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10431236
was generated by: ECO_0000203

NP2499.RAL4Er1L1Dq0HyMg10OfnmHCEK2HIoLGSu8bdgYGyoq3E
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Approximately 50 mutations and many single nucleotide polymorphisms have been described in the ABCA1 gene, with mutations leading to Tangier disease and familial hypoalphalipoproteinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12763760
was generated by: ECO_0000203

NP2500.RAvFpfevOSZh0Ek2nfaaBMZv7nidJUTpUofq6EU4drcSQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Mutations in ABCA1 lead to familial high density lipoprotein deficiency and Tangier disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10884428
was generated by: ECO_0000203

NP2501.RA Ufshf0BFF47 g7DMg930JrwjKwFwe8IOoDp99YqLoQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: pubmed
was generated by: ECO_0000218

NP2502.RAH0WMNKFZ7K6as6EYGhhqpKh-pVN-npqFALPbGEZVRrU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We investigated the effect of dalcetrapib treatment on phytosterol levels in patients with familial combined hyperlipidemia (FCH) or familial hypoalphalipoproteinemia (FHA) due to mutations in apolipoprotein A1 (ApoA1) or ATP-binding cassette transporter A1 (ABCA1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25281277
was generated by: ECO_0000203

NP2503.RA8V776lbfUBxcm M9JDw4e1hqxO5FX3UIW4-o07o29Xg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Mutations in the ABCA1 gene cause defective cellular lipid efflux and severe familial HDL deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16343503
was generated by: ECO_0000203

NP2504.RA7xGeyeqLYsIG7GG2e aVXDVyWOmFO7ockbikP-Ozy-E
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22959828
was generated by: ECO_0000203

NP2505.RA6pdWf5hkkpbsRaoUBYZj3QZY0UJGOpz zw01DDEB-bk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Mutations at the ABCA1 gene locus cause severe familial HDL deficiency and, in the homozygous form, cause Tangier disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18706283
was generated by: ECO_0000203

NP2506.RAbgdnlEEghrC4JPOuKZnD9QQy7nQwdTQFU5Q TMO28Ns
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Mutations in the ABCA1 gene are linked to rare phenotypes, familial hypoalphalipoproteinemia (FHA) and Tangier disease (TD), characterized by markedly decreased plasma high-density lipoprotein cholesterol (HDL-C) levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12535741
was generated by: ECO_0000203

NP2507.RAAG8k8s0IvcOc6TxanS8UARRxIkWxq2n9QTKmmNOis6Y
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15722566
was generated by: ECO_0000203

NP2508.RAEodlOUVyClIvvamLKhvI t9MQLycYdRXWL4Py9Y0WY4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11476961
was generated by: ECO_0000203

NP2509.RA504YRt1BC-67qi67q vIDRSohdFY67DesF1n8OI4H84
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Direct sequencing of all coding regions and splice site junctions of other HDL candidate genes revealed no additional mutations, indicating that combined defective ABCA1 alleles may result in familial HDL deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/12009425
was generated by: ECO_0000218

NP2510.RAjfUyUVsPVd9S7KU2DgKtfVHNGTmVfw2qjgJfTAACQLo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15019541
was generated by: ECO_0000203

NP2511.RAbN0WlKNR8uzhbN6IWQ3XmH8SIDQ6WYlKsdWQPHY-UHk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [With these new sequencing primers, we found 3 novel ABCA1 mutations: a frameshift mutation (4570insA, A1484S-->X1492), a missense mutation (A986D) in a TD family, and a missense mutation (R170C) in aboriginal subjects with FHA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10938021
was generated by: ECO_0000203

NP2512.RAdCvAzUVSfo rp-zA9PXR570cWuDBomNokFWpcgBNx2w
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These data confirm recent data that a single defective allele in ABCA1 may be associated with reduced HDL cholesterol and FHA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12204794
was generated by: ECO_0000203

NP2513.RAUtEwQLtrqdImwneiagTyrTkYHNAX4qGPSkaJ09BUi-s
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The role of the ABCA1 transporter and cholesterol efflux in familial hypoalphalipoproteinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12700344
was generated by: ECO_0000203

NP2514.RAezQHc2aOay0J -zP3g8Py9QUd6F1qU0f9 BOjxE WvM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/10533863
was generated by: ECO_0000218

NP2515.RAVjbGds2BTll1MKoBl26zbvNkUVmRdildq8hbzEAZQOY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We and others have recently identified mutations in the ABCA1 gene as the underlying cause of Tangier disease (TD) and of a dominantly inherited form of familial hypoalphalipoproteinemia (FHA) associated with reduced cholesterol efflux.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11086027
was generated by: ECO_0000203

NP2516.RAJmY7OlfXyPMl0W4AeuO5p8tTQ8hj5oweIKxLgEp4BcE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [ABCA1 gene was initially implicated in Tangier disease and familial hypoalphalipoproteinemia and has been shown to be associated with coronary artery disease and atherosclerosis as well.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16009332
was generated by: ECO_0000203

NP2517.RAMvjITnbLEsFzBAbzYzeMSXGvjhD5mppCcXhSC9J jJk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Mutations in ATP-binding cassette transporter A1 (ABCA1) cause Tangier disease and familial hypoalphalipoproteinemia, resulting in low to absent plasma high-density lipoprotein cholesterol levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16873719
was generated by: ECO_0000203

NP2518.RA6wVjKUWE7Q6Lp1X3oIAwFXu5wou5dpIYwzTlaP4Gg3c
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The identification of mutations in ABCA1 in patients with Tangier disease and familial HDL deficiency demonstrated that inadequate transport of phospholipid and cholesterol to the extracellular space results in the hypercatabolism of lipid-poor nascent HDL particles.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11714841
was generated by: ECO_0000203

NP2519.RAO9RHNlMugMXNoK-4vOF0HG26lE1FJD7ac4VTmNNmoQM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [An ABCA1 truncation shows no dominant negative effect in a familial hypoalphalipoproteinemia pedigree with three ABCA1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21575609
was generated by: ECO_0000203

NP2520.RAth5iUwFEZfljnW PNM0obWDGUH5iIS2WR3VKW6kKMzQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We have now identified 13 ABCA1 mutations in 11 families (five TD, six FHA) and have examined the phenotypes of 77 individuals heterozygous for mutations in the ABCA1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/11086027
was generated by: ECO_0000218

NP2521.RA1CCr1clpMSRQcdt41nsRAKbW0K3y6kugV4SJvOdSeTw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To determine whether naturally occurring mutants of ABCA1 may affect its phosphorylation activity, fibroblasts from subjects with familial HDL deficiency (FHD, heterozygous ABCA1 defect) and Tangier disease (TD, homozygous/compound heterozygous ABCA1 defect) were treated with 8-Br-cAMP or forskolin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12454270
was generated by: ECO_0000203

NP2522.RAIpaxV2gyWM8-cy RCZoj28xNHL9kLW-Bi8FP9DzOan0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10533863
was generated by: ECO_0000203

NP2523.RAy33vtT GhLCInOzWIe2IFu 9aR4FSRenOvx1kk5skws
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [This corresponds to human 9q31.1, a chromosomal segment that contains the ATP-binding cassette protein-1 (ABCA1) gene, which is mutated in Tangier Disease and familial hypoalphalipoproteinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12364545
was generated by: ECO_0000203

NP2524.RAo7rCqqbP-QnvlDQh9Tojs3DIQsJCZvZqeQq50HC rbY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11476965
was generated by: ECO_0000203

NP2525.RAdB2FVXHSmNE7hqTNd4Gc-4cSErYpQ28fNiKE1W91dTw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These data confirm recent data that a single defective allele in ABCA1 may be associated with reduced HDL cholesterol and FHA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/12204794
was generated by: ECO_0000218

NP2526.RAvrVOiHJuu-oX-umtWGL06pBIse-9782GGOv1Ia4lUeY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10787172
was generated by: ECO_0000203

NP2527.RAmSr5mU0-4Vd4cwfNi8Ua8iORAT7abskO0hsHTCDhXaY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Direct sequencing of all coding regions and splice site junctions of other HDL candidate genes revealed no additional mutations, indicating that combined defective ABCA1 alleles may result in familial HDL deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12009425
was generated by: ECO_0000203

NP2528.RAV6ktMs6ZF npYNpWEdlcC0NMJsdsLX uPedmVRtdJLM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Mutations in ABCA1 cause severe HDL deficiency syndromes called Tangier disease and familial high-density lipoprotein deficiency, which are characterized by a severe deficiency or absence of high-density lipoprotein in the plasma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15209530
was generated by: ECO_0000203

NP2529.RA-zWbDl-l68FpGXxwpzB 0c42 98nX-2nWgPZxdouhRA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Amyloid beta protein (Abeta) starts to deposit as plasma membrane-bound form in diffuse plaques of brains from hereditary cerebral hemorrhage with amyloidosis-Dutch type, Alzheimer disease and nondemented aged subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10952062
was generated by: ECO_0000203

NP2530.RA7xIwWacEL-AoFlDi kkdZwlgWXKUoTn JpU5fUgUWV8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Amyloid beta protein precursor (APP) is a membrane-bound protein ubiquitously expressed in a variety of types of cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11279603
was generated by: ECO_0000203

NP2531.RAv4OCdhsrgFj ydsiw3bjdhbmV MSCMKpNzPBCBpUE6g
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Theoretical methods are used to develop models for the ion channel structure of the membrane-bound amyloid beta-protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/7535109
was generated by: ECO_0000203

NP2532.RAIH6BzkrZm5-KlbbN04ewCcmRGZ1vWCmT7mBJ3Z2-Bws
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The absence of ABCA1 decreases soluble ApoE levels but does not diminish amyloid deposition in two murine models of Alzheimer disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16207707
was generated by: ECO_0000203

NP2533.RA9R3njJZfPjuhFHH6FVyNF5hN7gceYNQVlqiY5BWc7o8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Mint adaptor proteins bind to the membrane-bound amyloid precursor protein (APP) and affect the production of pathogenic amyloid-? (A?) peptides related to Alzheimer's disease (AD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22787047
was generated by: ECO_0000203

NP2534.RAnTg8qFhYf3I2BhGrU8ktFKC7nPMTe3aR9gfCf8 w8jY
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to beta-amyloid metabolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15024730
was generated by: ECO_0000203

NP2535.RAFANUnxwQa9ByRyqj7u pjewkLX1F5eHkQQcAOf3Jls0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Animal and in vitro studies indicate that ABCA1 is involved in the production of amyloid-? (A?), a pivotal protein in Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23388172
was generated by: ECO_0000203

NP2536.RAEs1AHB1X4feFIt7huPO - SLkVZ4RbNne4JlhkSQNvM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Several independent studies have shown this poorly lipidated apoE increases amyloid burden in mouse models of AD, demonstrating that apoE lipidation by ABCA1 affects key steps in amyloid deposition or clearance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19116777
was generated by: ECO_0000203

NP2537.RAQR77HjASGTv4lOxNLuetmjBgUYzRe5VMcuyUEqIhPpg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Previous data demonstrate that bexarotene (Bex), retinoid X receptor (RXR) agonist, reduces soluble and insoluble amyloid-? (A?) in Alzheimer disease (AD)-transgenic mice either by increasing the levels of mouse apolipoprotein E (apoE) or increasing ABCA1/ABCG1-induced apoE lipoprotein association/lipidation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25217640
was generated by: ECO_0000203

NP2538.RACnzcHkfZuna1Bfb2h1uTlBQTLBnW0OZ22CbbOI9mEwA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [ABCA1 has been shown in mouse models to enable the clearance of amyloid-? peptide from the brain, through its role in the lipidation of apolipoprotein (APOE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24081377
was generated by: ECO_0000203

NP2539.RAhzjNvZtBpfZQg8Rg0qFuYFNgCzi-orLElaeCv1QrSzQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Proteolytic cleavage of beta-APP within the approximately 4-kDa beta-amyloid domain permits the secretion of the amino-terminal portion of beta-APP while concomitantly producing a membrane bound approximately 9-kDa carboxyl-terminal fragment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/8276862
was generated by: ECO_0000203

NP2540.RAFxwvjKIQKMoozGWP1ksI58IS2FNq5mu4vYfGjBTUCls
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Wild type and Tangier disease ABCA1 mutants modulate cellular amyloid-? production independent of cholesterol efflux activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21860089
was generated by: ECO_0000203

NP2541.RAldnPEo9FsNylHWwxvbfgG1vSnPUGK6YkOvJJgcnnWIQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our data delineate a folding pathway for ?-synuclein that ranges from a physiological multimeric, ?-helical, and membrane-bound species that acts as a SNARE-complex chaperone over a monomeric, natively unfolded form to an amyloid-like aggregate that is neurotoxic in vivo.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25834048
was generated by: ECO_0000203

NP2542.RAx3RlVnxX7p5oCPB5KkN7 hI9Sl6QopoWdl5hN0Nlz0A
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Here, we provide a brief summary of the approaches undertaken by different groups that lead to the nowadays working model of LXR and ABCA1 regulatory role in brain amyloidogenesis and amyloid clearance and we highlight the therapeutic potential of LXR agonists.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17430243
was generated by: ECO_0000203

NP2543.RAeuH5yXIy afCZGj6Cg9wcTlSDBYYoz3fjyS3UkqSB g
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [By electron microscopy, bundles of immunogold-labelled amyloid fibrils could be identified in coated and uncoated single membrane-bound vesicles of endoneurial macrophages.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/2512758
was generated by: ECO_0000203

NP2544.RAnoLyxUPqWzBSTe5auElRa6sOYS7uUg 8yeroXg-lsaU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [ABCA1 is Necessary for Bexarotene-Mediated Clearance of Soluble Amyloid Beta from the Hippocampus of APP/PS1 Mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/26175148
was generated by: ECO_0000203

NP2545.RA1D0y 1nIWfD1Tism5oQPgPUvpFKf3NtGLwXRxHF6e 0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our data indicate that ABCA1 is upregulated in AD hippocampal neurons potentially via an amyloid-beta-mediated pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20413849
was generated by: ECO_0000203

NP2546.RAB51AGIgxLul7QknFDYOKXBYn3p2nDfN3Z6qNFYjxCCI
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The LXR-ABCA1-APOE regulatory axis is now considered a promising therapeutic target in AD, which includes the only proven risk factor for AD - APOE, at two distinct levels - transcriptional regulation by LXR, and ABCA1 controlled lipidation which can influence Abeta aggregation and amyloid clearance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20188211
was generated by: ECO_0000203

NP2547.RAXR94pZGYej--vE0uZykUUfKe-e69O1wvCDdNPBm1qrg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The data for amyloid plaques and insoluble amyloid-? (A?) also show that Abca1 hemizygosity increases A? deposition only in APP/E4/Abca1(-/+) but not in APP/E3/Abca1(-/+) mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22993429
was generated by: ECO_0000203

NP2548.RAcCk11y-2YUBiLU-r698vxf-L9gjrdQGg-mnT 1Tit2Q
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Lack of ABCA1 considerably decreases brain ApoE level and increases amyloid deposition in APP23 mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16207713
was generated by: ECO_0000203

NP2549.RAIIHWBc2InDCPCbB6giB0jc19OFN2thiB27gPPx8b2 U
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We detected reduced KCC2 messenger RNA levels and less membrane-bound KCC2 immunoreactivity in ALS-vulnerable motoneurons in lumbar spinal cord and hypoglossal nuclei of SOD1-G93A mice but not in degeneration-resistant oculomotor nuclei.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20838240
was generated by: ECO_0000203

NP2550.RAFh7ZPhYSAEHtnPuR3tqp2aLoXHbuDf7ZBAKPsHOo6Ko
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [ABCA1 gene variation and heart disease risk reduction in the elderly during pravastatin treatment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24854628
was generated by: ECO_0000203

NP2551.RAYkypMxGpLjjzl1yGp2tYNr7WqJwWcfs7Ie-YPNo0YIc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The human neurological channelopathies are a rapidly expanding group of mainly genetic conditions that are characterized by dysfunction of membrane-bound glycoproteins (ion channels).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11562564
was generated by: ECO_0000203

NP2552.RAliIY1ZPXQOsHx-wh3FwWbGMTTKNSGVmOVdgHXvB8FuA
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The reason for the clonal proliferation of HCD cells and the biological effects of the truncated membrane-bound chains are presently unknown.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/1936120
was generated by: ECO_0000203

NP2553.RANHbzdNdfhwnyvd2HptxYsbpSjD-Mf ECcM09sx23mEM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In the NaPB-treated Hep3B cells without NS5A expression, induction of apoptosis was associated with Bax redistribution from the cytosol to the nucleus interior and subsequently, to a nuclear membrane-bound form.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12925958
was generated by: ECO_0000203

NP2554.RAcgDG6QkChg8Bkz8STKlraDwc4uuXykNa 818Oge yBE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2555.RAlMrbW9hZVpZQURC79Pc0hpzLTwvLRhMtlk9rdK0Hthc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2556.RAQkLbGBJIH9ixz1MFwfrYQ5OGBzNlXbZyB1eXtwi4VAs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2557.RAIjZluBaQcuklSMIAy4pwGMEU31Q5rEiZ2NQeJQFAUrw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The risk of anemia was increased for variant alleles of rs1128503 (ABCB1, C?>?T; p?=?0.023, OR?=?1.71, 95% CI?=?1.07-2.71), rs363717 (ABCA1, A?>?G; p?=?0.002, OR?=?2.08, 95% CI?=?1.32-3.27) and rs11615 (ERCC1, T?>?C; p?=?0.031, OR?=?1.61, 95% CI?=?1.04-2.50), while it was decreased for variant alleles of rs12762549 (ABCC2, C?>?G; p?=?0.004, OR?=?0.51, 95% CI?=?0.33-0.81).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25881102
was generated by: ECO_0000203

NP2558.RAnazIqpmm2CAwpiaHnP3PNd6Xe5HAkOvXiAM uNQn-C4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Expression of membrane-bound IL-15 by bone marrow fibroblast-like stromal cells in aplastic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15749732
was generated by: ECO_0000203

NP2559.RAZf0MKY3W vDNdS SIiI5pMe vaTOqAyrqNpPHDamHRU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The results demonstrated that AA T cells abnormally expressed low levels of membrane-bound FasL and contained high levels of intracellular FasL which could be triggered to release by high-dose phytohemagglutinin (PHA) pulse-stimulation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16212902
was generated by: ECO_0000203

NP2560.RAO0JoDY1XlQ40lYiI belAyefc9O DIJABVZezjowMj4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2561.RAU5aGQwUAuxr9d9jO0jp6gyF3n7TbfczzCWgx1caSdyE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Up-regulation of the ATP-binding cassette transporter A1 inhibits hepatitis C virus infection.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24646941
was generated by: ECO_0000203

NP2562.RA XoHGvwDAiRxG U3qb5RvKjkpGXGo70JIdjSlDNkPmo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2563.RAFrJlC908V2DIxEyyM0Wql9OVJxKJ2HWrikCwofWtNZg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2564.RA-Lh2xWlxL8tduK3-t bAK1pe8iiaAAZH5NNziDWlE-U
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The expression of membrane-bound Fas ligand (FasL) and Fas in lymphocytes and monocytes and levels of soluble forms of FasL (sFasL) and Fas (sFas) in plasma from human immunodeficiency virus (HIV)-positive and -negative subjects was evaluated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9806031
was generated by: ECO_0000203

NP2565.RA Nvp1-MdKogIxWG2wz6QDOhyuc4es1S 0wMeLifBEQo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Contribution of 20 single nucleotide polymorphisms of 13 genes to dyslipidemia associated with antiretroviral therapy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17700364
was generated by: ECO_0000203

NP2566.RAZxffMfXbJr75kliNZJdg82JLb67p1ZFM2ZJU3nHO3Ds
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [In vivo, increased monocyte ABCA1 expression in untreated HIV-infected patients and normalization of ABCA1 expression with virological suppression by ART supports direct HIV-induced impairment of cholesterol efflux previously demonstrated in vitro.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23204179
was generated by: ECO_0000203

NP2567.RALkPASzZMHC3AAskaqOV3P C7RRipIwDnI42JdQVE1Zc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We have now constructed two unique recombinant HIV-1 vaccines that co-express soluble or membrane-bound forms of the IL-13 receptor ?2 (IL-13R?2), which can 'transiently' block IL-13 activity at the vaccination site causing wild-type animals to behave similar to an IL-13 KO animal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23403475
was generated by: ECO_0000203

NP2568.RAktdT2vhRsFbtvjpRGwrB9w7P6HeXLn5YwismTE2UGGE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To address this question, we used Hodgkin lymphoma (HL) as a model because histopathological characteristics of HL are thought to be due mostly to the effects of a wide variety of cytokines, including TGFbeta or membrane-bound receptors such as PD-1 that are suspected to contribute to immune evasion of tumor cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17644739
was generated by: ECO_0000203

NP2569.RAIQS210Knk272DZe8EwpTQIQJ gh4lwIdrDJhdQUrj7E
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Molecular perturbation of cholesterol biosynthesis and efflux in astrocytes caused similarly altered astrocyte-neuron cross talk, whereas enhancement of glial SREBP2 and ABCA1 function reversed the aspects of neuronal dysfunction in HD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25301063
was generated by: ECO_0000203

NP2570.RA0crJ2K2KUI-y 3n8nqrp3RM6QLqQUjJ9hEAXayBJdbw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - PREDICTED
SIO_000772: pubmed
was generated by: ECO_0000218

MGD
imported on: 2017-01-25

NP2571.RA5OIwWBfnjDctQKmrcaG7FiLiBi-ybPmaYzsgBYYzP7M
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These findings show that several common genetic variants influence the lipid phenotype and the CAD risk in FH heterozygotes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15135251
was generated by: ECO_0000203

NP2572.RAfaBOWHWu9wH-bVbhrt -O7mFn1gEU4aDO9uYEn3lj2w
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [LDL receptor knockout (KO) mice were transplanted with bone marrow from ABCA1/apoE double KO (dKO) mice, their respective single KO's, and wild-type (WT) controls and were challenged with a high-fat/high-cholesterol diet for 9 weeks.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/22022523
was generated by: ECO_0000218

NP2573.RAo8ZYiALDkamT4DamnvaPsXZufCHzFy0-M152N9c3mZU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16030523
was generated by: ECO_0000203

NP2574.RAKzVH9Su2SUimIF6IO lj0RXtzY41XNGEQbCTTwaZa 4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The K allele of the R219K variant was significantly more frequent in FH subjects without premature CHD (0.32, 95% CI 0.27 to 0.37) than in FH subjects with premature CHD (0.25, 95% CI 0.21 to 0.29) (p<0.05), suggesting that the genetic variant R219K in AB]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12624133
was generated by: ECO_0000203

NP2575.RAr4sOjHGmCoEnpZxvzUtWIdIdp9 5Ufkeo1uoYpKN-9k
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Deficiency of macrophage ACAT1 accelerates atherosclerosis in apoE-/- mice but has no effect when hypercholesterolemia is corrected by apoE expression/deletion impairs ABCA1-mediated cholesterol efflux in macrophages regardless of apoE expression]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15851589
was generated by: ECO_0000203

NP2576.RAU8BTlGsupIUrLkBe4XPW16ZZHT7-Rrso7WBSG1LF-og
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These combined results indicate that overexpression of ABCA1 in C57BL/6 mice on a high cholesterol diet results in an atheroprotective lipoprotein profile and decreased atherosclerosis, and thus provide previously undocumented in vivo evidence of an anti-atherogenic role for the ABCA1 transporter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11752403
was generated by: ECO_0000203

NP2577.RA2FHsYRqo8 UaadqShuoC-GCid9H3vWRQn5IoKCCReA0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The effect of H?S on ABCA1 expression and lipid metabolism were assessed in vitro by cultured human hepatoma cell line HepG2, and in vivo by ApoE(-/-) mice with a high-cholesterol diet.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/27136542
was generated by: ECO_0000203

NP2578.RAtVlCjiCcZGWadPfbAoYRqBYVPlUmItvdb8RXBczCy48
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Evaluation of genotype distributions by the Chi-square test and subsequent multivariable logistic regression analysis with adjustment for age, sex, body mass index, smoking status, and the prevalence of diabetes mellitus and hypercholesterolemia revealed that the -14C-->T polymorphism of ABCA1, the C-->G (Ser2229Cys) polymorphism of ROS1, the C-->T (Asn591Asn) polymorphism of LDLR, the 13989A-->G (Ile118Val) polymorphism of CYP3A4, the C-->G and A-->C polymorphisms of ADIPOR1, and the -519A-->G polymorphism of MMP1 were significantly (P<0.05) associated with the prevalence of hypertension.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18097620
was generated by: ECO_0000203

NP2579.RAsgb1 KtYurzRynsD4XfnZSoMjpGmxbbNU05tD5akD g
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and -250G/A), FABP-2 (A54T), LPL (D9N, N291S, S447X) and ABCA1 (R219K) polymorphisms in 221 unrelated FH index cases and 349 FH relatives with defined LDL-R gene mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15135251
was generated by: ECO_0000203

NP2580.RArrM7qeIcjYPmjRWU5H2DtZyLSZMfrheS1BXDhVadJGE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/16030523
was generated by: ECO_0000218

NP2581.RAmaBAvRK1WxhNYvBF8Y3 oN0CEmMl50Hfip0MMqbwYFo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12624133
was generated by: ECO_0000203

NP2582.RA6-pHoUsa41o3I5 50EIXMOiPOnhLKP8 RasOhQv2qeo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Gene expression experiments with LDL receptor lacking primary FH fibroblasts, revealed that SR-BI and ABCA1 are important regulators for cholesterol acquisition in FH cells, consistent with findings in cells from NPC and TD patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22425645
was generated by: ECO_0000203

NP2583.RAkgqfdy4rn01sQZBi2arqV83 E-QXjJVoNTZOiHM0D4A
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [ABCA1 gene promoter DNA methylation is associated with HDL particle profile and coronary artery disease in familial hypercholesterolemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22419126
was generated by: ECO_0000203

NP2584.RArhZTolXYGuPt46UDsR BcJpDvh5yXajv8jmAdgihgh8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12624133
was generated by: ECO_0000203

NP2585.RALABxCBZIhVn5E2fsVuSdy-fPxoR9OlakRdIO0ySPKWk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [A frequent variant in the ABCA1 gene is associated with increased coronary heart disease risk and a better response to statin treatment in familial hypercholesterolemia patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20595220
was generated by: ECO_0000203

NP2586.RA9jkAVMtjBPC yNMOWfCUc3y3d7CLqwy46qmK4grYo2s
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Suppression of these PKC isoforms also negated the stimulatory effects of hyperglycaemia on the protein expression of NADPH oxidase membrane-bound components, Nox2 and p22-phox which determine the overall enzymatic activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24936444
was generated by: ECO_0000203

NP2587.RA5WmpGVWRnQno9rjC6DZrlOmwteJtZvX3qD-yBvwNU5w
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Isolated low HDL-C subjects also demonstrated an increase in ?-cell secretory capacity but in contrast to those with ABCA1 mutations, exhibited impaired insulin sensitivity, supporting ?-cell compensation for increased insulin demand.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25125487
was generated by: ECO_0000203

NP2588.RAWvuw1OUm9h6PUptTRfLN RXIfI4BGn4L98vV lZF0EE
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Hyperlipidemic Mexican subjects with the ABCA1 R230C genotype showed lower HDL-concentrations and were better responders to dietary portfolio treatments for increasing HDL-C concentrations than subjects with the R230R genotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20797885
was generated by: ECO_0000203

NP2589.RARmDHUwZU9lqk0dUFB73yMKhIh9ibo5av0-g1KKrBsDs
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Association of selected ABC gene family single nucleotide polymorphisms with postprandial lipoproteins: results from the population-based Hortega study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20170916
was generated by: ECO_0000203

NP2590.RAZhH2-HEz1QEkjv-6Nkm3fzazqyBDmIloc-r1L3-iIQo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The genetic polymorphisms of ABCA1, LPL-HindIII and LPL-PvuII in Chinese Han ethnic population are significantly different from Caucasians residing in USA or Europe.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15696473
was generated by: ECO_0000203

NP2591.RASdTgX5AWhepwEsvCR3LScz9o B7Aix41mwah2ZLp6ig
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [An intronic single nucleotide polymorphism in ABCA1 and the APOE epsilon3 allele are associated with reduced LDLc lowering by statins and identify individuals who may be resistant to maximal LDLc lowering by statins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20031551
was generated by: ECO_0000203

NP2592.RAS5lWkTGiYJjQPkJhwRRpl7X qsyU-nc-RZ1P-aKqz0k
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Moreover, mutations in ABCA1, CETP, and LCAT were significantly associated with hyperlipidemia in this study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/25110219
was generated by: ECO_0000203

NP2593.RASQdf4e7vsbEy2ybMaalRSRzAufHvPGVTPhf82fxmlpg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The association of the R219K polymorphism in the ATP-binding cassette transporter 1 ( ABCA1) gene with coronary heart disease and hyperlipidaemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12700893
was generated by: ECO_0000203

NP2594.RA82iUlEQ-QKMRek7IIuYqrZBG4PN8m yF1Wn-2pMZDQw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The association of the R219K polymorphism in the ATP-binding cassette transporter 1 ( ABCA1) gene with coronary heart disease and hyperlipidaemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12700893
was generated by: ECO_0000203

NP2595.RAnlhSinuHpOLmNecXGho50PDIOxNyL3ytqsFnAHSl2 8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our work shows that major allele homozygotes for ABCA1 single nucleotide polymorphisms i27943 and i48168 have a lower postprandial response as compared to minor allele carriers. This finding may further characterize the role of ABCA1 in lipid metabolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20185793
was generated by: ECO_0000203

NP2596.RAeJmcsAcvAyWfBKSNQMR8Wj6hSTI3F9itdgxky36HJzc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The R219K polymorphism in the ATP-binding cassette transporter 1 gene has a protective effect on atherothrombotic cerebral infarction in Chinese Han ethnic population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18621447
was generated by: ECO_0000203

NP2597.RANLwat4ROobdegXB9JnYTExE3Jsc0H5lbmhKAGihmmTQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Association of polymorphisms of ABCA1 and ROS1 with hypertension in Japanese individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18097620
was generated by: ECO_0000203

NP2598.RA I6oyn7D9DbAodDk9ipCLZix0tpRaUXKsfnQg3bPofg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These results suggest that polymorphisms of ABCA1 and ROS1 are determinants of blood pressure and the development of hypertension in Japanese individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18097620
was generated by: ECO_0000203

NP2599.RAjyDrtUq1ZA-UR jaR25efgOd3y-RNns0d 9SCT4Piw0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2600.RA1h4cX4HHf-qNZU-ujLRyTlcvB9qfxRqkQFnhIJ6vkXk
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [ABCA1 heterozygotes have decreased HDL cholesterol (HDL-C) and increased triglycerides.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11086027
was generated by: ECO_0000203

NP2601.RABzrRbt8M vwCNZShyQTkNTkRKLGLyCylDprfekeq Ic
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [It is important to confirm whether known loci have a consistent effect across ethnic groups. We show replication of 5 Caucasian genome-wide association studies lipid associations in Mexicans. The remaining loci will require a comprehensive investigation t]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20160193
was generated by: ECO_0000203

NP2602.RA-HsatfJc48z7JX5uaBncvXAUnNL9m0WfuSryqvPS1o8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [ABCA1 promotes the de novo biogenesis of apolipoprotein CIII-containing HDL particles in vivo and modulates the severity of apolipoprotein CIII-induced hypertriglyceridemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18767813
was generated by: ECO_0000203

NP2603.RAsRzO4k-ssVseemZxB IHvytWb51WY130uxP9bRv0cRo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Mutations within the ABCA1 gene are associated with decreased HDL-C, increased triglycerides, and an increased risk of CAD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/11238261
was generated by: ECO_0000203

NP2604.RA CNEJhwxsnayXiGw6LE6htyHTBlsqVZaLNd2uNnf1GQ
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2605.RATO2max4630xKDXqq808wWU RpvfWEAwy4x7c4FpL2Mc
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Common ABCA1 variants, HDL levels, and cellular cholesterol efflux in subjects with familial low HDL.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17372331
was generated by: ECO_0000203

NP2606.RAL3UBaJIl6d7Gd9Nmid9m1rmIEflRUb1 6GFJEhsGPB0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Membrane-bound tyrosine kinase activity was not present in untreated or RA-treated cells but was induced by A23187 treatment alone and was markedly increased in cells 48 hr after treatment with the combination of A23187 and RA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/3100942
was generated by: ECO_0000203

NP2607.RAX-8h9tJpmfyvl7xfpLQc1Anv3KGycfHE7M4Rk2H-qmU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The most characteristic histological feature in ICD is the storage of membrane-bound vacuoles with fibrillo-granular contents in fibroblasts and of smaller inclusions with concentric ring-like profiles in endothelial cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/6093421
was generated by: ECO_0000203

NP2608.RAx3tpK87uG-gn3gtVUvC9ILK5ntR301ik39eQ2xmwGlU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Expression of vascular cell adhesion molecule-1 (VCAM-1) messenger RNA (mRNA) was also strikingly elevated in cultured ECs after exposure to sickle cell perfusion, although increases in membrane-bound and soluble VCAM-1 levels were small.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10807794
was generated by: ECO_0000203

NP2609.RANilCaZ7JPlVfLw1TcImuTqbiqp o3gdUXTgSx99DD3g
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20855565
was generated by: ECO_0000203

NP2610.RAonidd7nDMRAcllsGRulqB3emJveY3iwx6tWcOPc1yG0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Several studies have evaluated the role of the multidrug resistance 1 gene (MDR1) polymorphism, which encodes the membrane-bound efflux transporter P-glycoprotein 170, in determining susceptibility to and disease behavior in inflammatory bowel disease (IBD), but with conflicting results.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17260353
was generated by: ECO_0000203

NP2611.RA2gaEjp3U eZ X8eNHlYUtYkN5FBsdXf eJSYnA2c7os
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Allelic variants of the ATP-binding cassette, subfamily B member 1 (ABCB1), also known as the multidrug resistance gene (MDR1) that encodes the membrane-bound efflux transporter P-glycoprotein 170 (PGP-170), have been associated with inflammatory bowel disease but with conflicting results.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16633048
was generated by: ECO_0000203

NP2612.RA 5MyFvE28Kizs0ZKzaS0m03D-xSQhvf zjugcCwpM0k
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [To study the putative function of O-acetyl-GD3, we established stably transfected AbC-1 amelanotic hamster melanoma cells with O-acetylesterase gene from influenza C virus to hydrolyze the O-acetyl group from O-acetyl-GD3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10037466
was generated by: ECO_0000203

NP2613.RAzaB5xiGFFiTfz1ttexHkyiORUl1MNv6GChK 3HGln9I
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Association of common JAK2 variants with body fat, insulin sensitivity and lipid profile.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18239666
was generated by: ECO_0000203

NP2614.RADVLGyiGtzCT5a7osKlFABWL2iy3cAaUrQDgcbD9Iigo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20855565
was generated by: ECO_0000203

NP2615.RAslxI-0T8qFMA8WMi3xZGFegkCKghJxuO6D7wE7Obpks
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2616.RALUZoF8QThVyr dyftkytNSDLQAuklBRMTDjjdKt2JuU
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The brain of the aging spongecake mutant exhibits regionally specific, membrane-bound vacuoles similar to those seen in spongiform degenerations such as Creutzfeldt-Jakob disease [6,7].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9382801
was generated by: ECO_0000203

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has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Our data confirm earlier observations that ABCA1 R219K and V771M polymorphisms may be associated with a protective role against CHD and extend those to another important pathologic condition, namely stroke.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16446539
was generated by: ECO_0000203

NP2618.RA0Ns44H6y2GRemThXpeQmHZcJHzeNS5hMI1UGSazGveg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2619.RAMn0h 15OLfaAV3lgjV89qRIOjd4GSiIQd6Q-1D3uO1A
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2620.RAQPOnqelmlXd2yFHUv9568EZg--gPg L8lyjuY587sMo
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [APL express membrane-bound TRAIL on their surface and exhibit a pattern of TRAIL-R expression similar to that observed in the other types of AML.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15921376
was generated by: ECO_0000203

NP2621.RAY4 seHT59SsVQhI9zWV2rtABC2uV4QjSG1md 4t4eqg
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [The capacity of serum to induce ABCA1- and SR-BI-mediated cholesterol efflux was impaired in diabetic patients with incipient or overt nephropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18802933
was generated by: ECO_0000203

NP2622.RA-O1VgUf-GdzSB9MxpFnsDzr7LJHfOpibKv1oz6Wv0ok
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [These results suggest that the variation in the expression profile of membrane bound and soluble isoforms may modulate the risk for ESRD and AR.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24929145
was generated by: ECO_0000203

NP2623.RAnNSWj-7Km-JpvSXnj7PD250-T5uHHZVHiDeSfL6Mtfw
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19578796
was generated by: ECO_0000203

NP2624.RAipkHH2FimZqcoLINjLyQ6GVMtCyxQ5gtjkSlvSBHfr8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Niacin improves renal lipid metabolism and slows progression in chronic kidney disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/19878707
was generated by: ECO_0000218

NP2625.RAxNPktH P-vOi9iH0Peh rjPsu5Z83w43lzpNzZFXenM
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [GAP activity in both the membrane-bound and soluble fractions was sharply decreased and its immunohistochemical expression showed mild staining in the four histological types of renal tumours.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/24885240
was generated by: ECO_0000203

NP2626.RAJrzB8P ICzdprNYBDALX5ekHOW4-KjOZRI0PiJjz1l4
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Further tests showed that BeWo cells did not express the transcript for the membrane-bound Cu-ATPase that has been identified with Menkes syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9587141
was generated by: ECO_0000203

NP2627.RASfgtwe4UVrUehNY CNB4aCIBOWCFuLLEFTBUtgGwY74
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Variants in maternal and fetal genes for cholesterol metabolism were associated with PTD and decreased birth weight or gestational age in this study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17855807
was generated by: ECO_0000203

NP2628.RAoe364cXWSdsBt8oTI8gqAMvvL5J7xCQRlyHVZgAlxX8
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [We investigated ABCG1 and ABCA1 expression in alveolar macrophages of PAP patients and GM-CSF knockout (KO) mice, which exhibit PAP-like pulmonary pathology and increased pulmonary cholesterol.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17848583
was generated by: ECO_0000203

NP2629.RASZTcz5VZAqhxutG4s2TpfCsb6qeSMzdzXjOfXbc8n4U
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: []. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: pubmed
was generated by: ECO_0000203

NP2630.RAVKT3kKsplI9sfse0ZQCRWM0plPEg7TVT WexIZl-f9U
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [No mutations in HTG-related genes, ABCA1 and LCAT were found.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/26687706
was generated by: ECO_0000203

NP2631.RAE29X1IJSxNd-a6npEPK3u aCG5hr8JBOHnF5Z1caSww
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [Subjects with complete LCAT deficiency showed mostly the small ?4 HDL subpopulation and subjects with complete ABCA1 deficiency the ?4 and pre? HDL subpopulations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21420943
was generated by: ECO_0000203

NP2632.RAaO0ZvZQldR08pzeAIkTzW1gLfRjqE5psP 3g1KYwXL0
has assertion: assertion
has provenance: provenance
has publication info: publicationInfo
type: Nanopublication
created: 2017-10-17T13:10:12+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v5.0.0.0

assertion
description: [This survey underlines the allelic heterogeneity of ABCA1 mutations and suggests that: (i) TD subjects, if asymptomatic, may be overlooked and (ii) there may be a selection bias in genotyping towards carriers of ABCA1 mutations who have pCAD possibly related to a combination of genetic and environmental cardiovascular risk factors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15019541
was generated by: ECO_0000203