@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:NP1214048.RAuIvuVAFQ2nPx1t8tHuChcQG5T3lMDCDEhKi6y5fNsX4130_head { this: np:hasAssertion dgn-np:NP1214048.RAuIvuVAFQ2nPx1t8tHuChcQG5T3lMDCDEhKi6y5fNsX4130_assertion; np:hasProvenance dgn-np:NP1214048.RAuIvuVAFQ2nPx1t8tHuChcQG5T3lMDCDEhKi6y5fNsX4130_provenance; np:hasPublicationInfo dgn-np:NP1214048.RAuIvuVAFQ2nPx1t8tHuChcQG5T3lMDCDEhKi6y5fNsX4130_publicationInfo; a np:Nanopublication . dgn-np:NP1214048.RAuIvuVAFQ2nPx1t8tHuChcQG5T3lMDCDEhKi6y5fNsX4130_assertion a np:Assertion . dgn-np:NP1214048.RAuIvuVAFQ2nPx1t8tHuChcQG5T3lMDCDEhKi6y5fNsX4130_provenance a np:Provenance . dgn-np:NP1214048.RAuIvuVAFQ2nPx1t8tHuChcQG5T3lMDCDEhKi6y5fNsX4130_publicationInfo a np:PublicationInfo . } dgn-np:NP1214048.RAuIvuVAFQ2nPx1t8tHuChcQG5T3lMDCDEhKi6y5fNsX4130_assertion { miriam-gene:857 a ncit:C16612 . lld:C0152171 a ncit:C7057 . dgn-gda:DGN704153e97fb1a76986a19de213793419 sio:SIO_000628 miriam-gene:857, lld:C0152171; a sio:SIO_001121 . } dgn-np:NP1214048.RAuIvuVAFQ2nPx1t8tHuChcQG5T3lMDCDEhKi6y5fNsX4130_provenance { dgn-np:NP1214048.RAuIvuVAFQ2nPx1t8tHuChcQG5T3lMDCDEhKi6y5fNsX4130_assertion dcterms:description "[Since the landmark discovery that bone morphogenetic protein receptor type II (BMPR2) mutations cause the majority of cases of familial PAH, investigators have discovered mutations in genes that cause PAH in families without BMPR2 mutations, including the type I receptor ACVRL1 and the type III receptor ENG (both associated with hereditary hemorrhagic telangiectasia), caveolin-1 (CAV1), and a gene (KCNK3) encoding a two-pore potassium channel.]. 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:25159282; 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:NP1214048.RAuIvuVAFQ2nPx1t8tHuChcQG5T3lMDCDEhKi6y5fNsX4130_publicationInfo { this: dcterms:created "2016-05-13T12:50:56+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" . }