http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag130_head http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag130_assertion http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag130_provenance http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag130_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/C0041408 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/DGN39e62b03dfdf1e1abdf3985855878e1c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2516 http://rdf.disgenet.org/resource/gda/DGN39e62b03dfdf1e1abdf3985855878e1c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0041408 http://rdf.disgenet.org/resource/gda/DGN39e62b03dfdf1e1abdf3985855878e1c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag130_provenance http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag130_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/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag130_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/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23299922 http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag130_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/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag http://purl.org/dc/terms/created 2016-05-13T12:49:38+02:00 http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1041835.RA2LuHzgrmjtTrUp8GwkbNk2sUi0SBWYjwMUoea70xUag 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