http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_head
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_assertion
http://identifiers.org/ncbigene/55650
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/C2931876
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/resource/gda/DGN3167dc09e07bfd41ee6f6ab3ca9ab9a2
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/55650
http://rdf.disgenet.org/resource/gda/DGN3167dc09e07bfd41ee6f6ab3ca9ab9a2
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C2931876
http://rdf.disgenet.org/resource/gda/DGN3167dc09e07bfd41ee6f6ab3ca9ab9a2
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_assertion
http://purl.org/dc/terms/description
[Our findings in the largest reported cohort to date significantly extend the range of reported manifestations associated with PIGV mutations and demonstrate that the severe end of the clinical spectrum presents as a multiple congenital malformation syndrome with a high frequency of Hirschsprung disease, vesicoureteral, and renal anomalies as well as anorectal malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/24129430
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000212
http://rdf.disgenet.org/v4.0.0/void/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU
http://purl.org/dc/terms/created
2016-05-13T12:50:14+02:00
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0