http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk130_head http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk130_assertion http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk130_provenance http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk130_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/C0405580 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/DGNa62e2a1def4773e5c782e21100d0440e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2516 http://rdf.disgenet.org/resource/gda/DGNa62e2a1def4773e5c782e21100d0440e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0405580 http://rdf.disgenet.org/resource/gda/DGNa62e2a1def4773e5c782e21100d0440e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk130_provenance http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk130_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/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21654157 http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk http://purl.org/dc/terms/created 2015-08-25T14:41:40+02:00 http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP413590.RAqk3gApL5HT9Y2TDaL0e65jsb-3nDQStNVcyVIeCw8kk http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0