http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk130_head http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk130_assertion http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk130_provenance http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk130_assertion http://identifiers.org/ncbigene/2516 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/C0452147 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/DGN84c99a963cea02135676af9fe2eb194c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2516 http://rdf.disgenet.org/resource/gda/DGN84c99a963cea02135676af9fe2eb194c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0452147 http://rdf.disgenet.org/resource/gda/DGN84c99a963cea02135676af9fe2eb194c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk130_provenance http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk130_assertion http://purl.org/dc/terms/description [NR5A1 mutations have been identified in patients with various forms of 46,XY disorders of sex development (DSD), including complete gonadal dysgenesis with or without adrenal insufficiency, mild testicular dysgenesis with ambiguous external genitalia or female external genitalia with clitoromegaly, and penoscrotal hypospadias.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk130_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/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21654157 http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk130_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/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk http://purl.org/dc/terms/created 2016-05-13T12:48:32+02:00 http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP900322.RA2bWbD58Mfh1oGgOgOUSnhUa4r9HRCO7gx33SQzw6VNk 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