@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP1046503.RAqKz-w8ZXrEXCWTJAoisaWlqUxd2d_BAhBA3E9WhlQ-4130_head { this: np:hasAssertion dgn-np:NP1046503.RAqKz-w8ZXrEXCWTJAoisaWlqUxd2d_BAhBA3E9WhlQ-4130_assertion; np:hasProvenance dgn-np:NP1046503.RAqKz-w8ZXrEXCWTJAoisaWlqUxd2d_BAhBA3E9WhlQ-4130_provenance; np:hasPublicationInfo dgn-np:NP1046503.RAqKz-w8ZXrEXCWTJAoisaWlqUxd2d_BAhBA3E9WhlQ-4130_publicationInfo; a np:Nanopublication . dgn-np:NP1046503.RAqKz-w8ZXrEXCWTJAoisaWlqUxd2d_BAhBA3E9WhlQ-4130_assertion a np:Assertion . dgn-np:NP1046503.RAqKz-w8ZXrEXCWTJAoisaWlqUxd2d_BAhBA3E9WhlQ-4130_provenance a np:Provenance . dgn-np:NP1046503.RAqKz-w8ZXrEXCWTJAoisaWlqUxd2d_BAhBA3E9WhlQ-4130_publicationInfo a np:PublicationInfo . } dgn-np:NP1046503.RAqKz-w8ZXrEXCWTJAoisaWlqUxd2d_BAhBA3E9WhlQ-4130_assertion { miriam-gene:1584 a ncit:C16612 . lld:C0004775 a ncit:C7057 . dgn-gda:DGN9abfc7faca19d261819b357bd4c51b1f sio:SIO_000628 miriam-gene:1584, lld:C0004775; a sio:SIO_001121 . } dgn-np:NP1046503.RAqKz-w8ZXrEXCWTJAoisaWlqUxd2d_BAhBA3E9WhlQ-4130_provenance { dgn-np:NP1046503.RAqKz-w8ZXrEXCWTJAoisaWlqUxd2d_BAhBA3E9WhlQ-4130_assertion dcterms:description "[Mutations in the 11β-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."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:23345044; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP1046503.RAqKz-w8ZXrEXCWTJAoisaWlqUxd2d_BAhBA3E9WhlQ-4130_publicationInfo { this: dcterms:created "2016-05-13T12:49:40+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }