http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c130_head
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c130_assertion
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c130_provenance
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c130_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/C0001623
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/DGN746b09f0da45ed73b3a257cb27bb89a0
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2516
http://rdf.disgenet.org/resource/gda/DGN746b09f0da45ed73b3a257cb27bb89a0
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0001623
http://rdf.disgenet.org/resource/gda/DGN746b09f0da45ed73b3a257cb27bb89a0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c130_provenance
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c130_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/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c130_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/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/21654157
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c130_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/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c
http://purl.org/dc/terms/created
2015-08-25T14:41:40+02:00
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP413432.RAA-sVbJPbcgn3yFOGD2QEafSucRC5mkE8LaMZDGHRX6c
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