http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik#head http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik#assertion http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik#provenance http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik#assertion http://rdf.disgenet.org/resource/gda/DGNd684bd66d84df9e021050d698763eb0f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2516 http://rdf.disgenet.org/resource/gda/DGNd684bd66d84df9e021050d698763eb0f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1261504 http://rdf.disgenet.org/resource/gda/DGNd684bd66d84df9e021050d698763eb0f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik#provenance http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik#assertion http://purl.org/dc/terms/description [Mutations in NR5A1 were first described in patients with primary adrenal insufficiency and 46,XY disorders of sexual development and later also in men with hypospadias, bilateral anorchia and micropenis and women with primary ovarian insufficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik#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/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23299922 http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik#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/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik http://purl.org/dc/terms/created 2017-10-17T13:12:51+02:00 http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP420418.RAM3cXjdOuhz_T5Wm4t8Lvx6s_LVEm4wHEsJFDKNBjeik 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