@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:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_head { this: np:hasAssertion dgn-np:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_assertion; np:hasProvenance dgn-np:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_provenance; np:hasPublicationInfo dgn-np:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_publicationInfo; a np:Nanopublication . dgn-np:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_assertion a np:Assertion . dgn-np:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_provenance a np:Provenance . dgn-np:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_publicationInfo a np:PublicationInfo . } dgn-np:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_assertion { miriam-gene:6770 a ncit:C16612 . lld:C0151467 a ncit:C7057 . dgn-gda:DGN849108c0d2c39b311755b0296dfb37de sio:SIO_000628 miriam-gene:6770, lld:C0151467; a sio:SIO_001121 . } dgn-np:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_provenance { dgn-np:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_assertion dcterms:description "[Mutations in the steroidogenic acute regulatory protein (StAR) gene cause congenital lipoid adrenal hyperplasia, characterized by diminished or absence of adrenal and gonadal steroids, resulting in severe adrenal insufficiency and ambiguous or complete female external genitalia in genetic males.]. 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:10323391; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_publicationInfo { this: dcterms:created "2014-10-02T12:39:31+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }