http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc#head http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc#assertion http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc#provenance http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc#assertion http://rdf.disgenet.org/resource/gda/DGN8244227a2e438d73ef9c8f0a0d9ab534 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2516 http://rdf.disgenet.org/resource/gda/DGN8244227a2e438d73ef9c8f0a0d9ab534 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0001623 http://rdf.disgenet.org/resource/gda/DGN8244227a2e438d73ef9c8f0a0d9ab534 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc#provenance http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc#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/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21654157 http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc http://purl.org/dc/terms/created 2017-10-17T13:12:51+02:00 http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP420303.RAiKIWwIXyNo8sYWl5H09LerCqPI8MW-G2XJcM35O7roc http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0