http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw130_head
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw130_assertion
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw130_assertion
http://identifiers.org/ncbigene/4200
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612
http://linkedlifedata.com/resource/umls/id/C0270853
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057
http://rdf.disgenet.org/gene-disease-association.ttl#DGN997c101b040597575865851b4a00b25d
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4200
http://rdf.disgenet.org/gene-disease-association.ttl#DGN997c101b040597575865851b4a00b25d
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0270853
http://rdf.disgenet.org/gene-disease-association.ttl#DGN997c101b040597575865851b4a00b25d
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw130_assertion
http://purl.org/dc/terms/description
[Mutations in the EFHC1 gene (unknown function) occur in other rare JME families, and yet in other families, associations are present between JME (or other generalized epilepsies) and single nucleotide polymorphisms in the BRD2 gene (unknown function) and the malic enzyme 2 (ME2) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/16049035
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/eco.owl#ECO_0000203
http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225
http://purl.org/pav/2.0/importedOn
2014-02-25
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/eco.owl#ECO_0000212
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations inferred from text-mining the literature.
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw
http://purl.org/dc/terms/created
2014-10-02T12:37:35+02:00
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw
http://purl.org/pav/2.0/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP556055.RAxtn5foImc0xVwdg4RvkW6Uag9zSLLrKNLRhyIyoWHsw
http://purl.org/pav/2.0/version
v2.1.0.0
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://purl.org/pav/2.0/version
v2.1.0