@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:NP715389.RAC7oyhKk2OF0N5pb9XrN7E4zzHBVRa_vvBfmNRYbPbbo130_head { this: np:hasAssertion dgn-np:NP715389.RAC7oyhKk2OF0N5pb9XrN7E4zzHBVRa_vvBfmNRYbPbbo130_assertion; np:hasProvenance dgn-np:NP715389.RAC7oyhKk2OF0N5pb9XrN7E4zzHBVRa_vvBfmNRYbPbbo130_provenance; np:hasPublicationInfo dgn-np:NP715389.RAC7oyhKk2OF0N5pb9XrN7E4zzHBVRa_vvBfmNRYbPbbo130_publicationInfo; a np:Nanopublication . dgn-np:NP715389.RAC7oyhKk2OF0N5pb9XrN7E4zzHBVRa_vvBfmNRYbPbbo130_assertion a np:Assertion . dgn-np:NP715389.RAC7oyhKk2OF0N5pb9XrN7E4zzHBVRa_vvBfmNRYbPbbo130_provenance a np:Provenance . dgn-np:NP715389.RAC7oyhKk2OF0N5pb9XrN7E4zzHBVRa_vvBfmNRYbPbbo130_publicationInfo a np:PublicationInfo . } dgn-np:NP715389.RAC7oyhKk2OF0N5pb9XrN7E4zzHBVRa_vvBfmNRYbPbbo130_assertion { miriam-gene:6770 a ncit:C16612 . lld:C0342492 a ncit:C7057 . dgn-gda:DGNf017bc0a66e89f0a2b3d4eaa6f0d2a03 sio:SIO_000628 miriam-gene:6770, lld:C0342492; a sio:SIO_001121 . } dgn-np:NP715389.RAC7oyhKk2OF0N5pb9XrN7E4zzHBVRa_vvBfmNRYbPbbo130_provenance { dgn-np:NP715389.RAC7oyhKk2OF0N5pb9XrN7E4zzHBVRa_vvBfmNRYbPbbo130_assertion dcterms:description "[Congenital lipoid adrenal hyperplasia is an autosomal recessive condition due to mutations in Steroidogenic Acute Regulatory Protein (StAR) associated with the inability to synthesize all adrenal and gonadal steroids, resulting in adrenal insufficiency and failure to develop male genitalia in affected 46,XY individuals.]. 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:18058976; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP715389.RAC7oyhKk2OF0N5pb9XrN7E4zzHBVRa_vvBfmNRYbPbbo130_publicationInfo { this: dcterms:created "2015-08-25T14:44:51+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }