http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI#head http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI#assertion http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI#provenance http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI#assertion http://rdf.disgenet.org/resource/gda/DGN62be72142ea9a8c7794904df1cb181fd http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1584 http://rdf.disgenet.org/resource/gda/DGN62be72142ea9a8c7794904df1cb181fd http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0001623 http://rdf.disgenet.org/resource/gda/DGN62be72142ea9a8c7794904df1cb181fd http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI#provenance http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI#assertion http://purl.org/dc/terms/description [Mutations in the 11?-hydroxylase (CYP11B1) gene are the second leading cause of congenital adrenal hyperplasia (CAH), an autosomal recessive disorder characterized by adrenal insufficiency, virilization of female external genitalia, and hypertension with or without hypokalemic alkalosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI#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/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23345044 http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI#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/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI http://purl.org/dc/terms/created 2017-10-17T13:11:54+02:00 http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP269969.RAL2Bzvx0PCyY8nJ9D9AJelYocII7vujUo6-tcyiRXixI 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