@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:NP789340.RAi2AHukLawvTyeT10aXeiLpuWM5eGDlKtlczW-eTbkkc130_head { this: np:hasAssertion dgn-np:NP789340.RAi2AHukLawvTyeT10aXeiLpuWM5eGDlKtlczW-eTbkkc130_assertion; np:hasProvenance dgn-np:NP789340.RAi2AHukLawvTyeT10aXeiLpuWM5eGDlKtlczW-eTbkkc130_provenance; np:hasPublicationInfo dgn-np:NP789340.RAi2AHukLawvTyeT10aXeiLpuWM5eGDlKtlczW-eTbkkc130_publicationInfo; a np:Nanopublication . dgn-np:NP789340.RAi2AHukLawvTyeT10aXeiLpuWM5eGDlKtlczW-eTbkkc130_assertion a np:Assertion . dgn-np:NP789340.RAi2AHukLawvTyeT10aXeiLpuWM5eGDlKtlczW-eTbkkc130_provenance a np:Provenance . dgn-np:NP789340.RAi2AHukLawvTyeT10aXeiLpuWM5eGDlKtlczW-eTbkkc130_publicationInfo a np:PublicationInfo . } dgn-np:NP789340.RAi2AHukLawvTyeT10aXeiLpuWM5eGDlKtlczW-eTbkkc130_assertion { miriam-gene:1584 a ncit:C16612 . lld:C0520463 a ncit:C7057 . dgn-gda:DGN719695e55a67d675a39022806986e929 sio:SIO_000628 miriam-gene:1584, lld:C0520463; a sio:SIO_001121 . } dgn-np:NP789340.RAi2AHukLawvTyeT10aXeiLpuWM5eGDlKtlczW-eTbkkc130_provenance { dgn-np:NP789340.RAi2AHukLawvTyeT10aXeiLpuWM5eGDlKtlczW-eTbkkc130_assertion dcterms:description "[Autosomal recessive mutations in the CYP21, CYP17, CYP11B1 and 3betaHSD genes that encode steroidogenic enzymes, in addition to mutations in the gene encoding the intracellular cholesterol transport protein steroidogenic acute regulatory protein StAR can cause CAH.]. 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:15255373; 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:NP789340.RAi2AHukLawvTyeT10aXeiLpuWM5eGDlKtlczW-eTbkkc130_publicationInfo { this: dcterms:created "2014-10-02T12:40:01+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" . }