@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:NP1287691.RAZH-LfIAW7fCD4zR5XVYFXzd9sErruYW9edtvowNmWho130_head { this: np:hasAssertion dgn-np:NP1287691.RAZH-LfIAW7fCD4zR5XVYFXzd9sErruYW9edtvowNmWho130_assertion; np:hasProvenance dgn-np:NP1287691.RAZH-LfIAW7fCD4zR5XVYFXzd9sErruYW9edtvowNmWho130_provenance; np:hasPublicationInfo dgn-np:NP1287691.RAZH-LfIAW7fCD4zR5XVYFXzd9sErruYW9edtvowNmWho130_publicationInfo; a np:Nanopublication . dgn-np:NP1287691.RAZH-LfIAW7fCD4zR5XVYFXzd9sErruYW9edtvowNmWho130_assertion a np:Assertion . dgn-np:NP1287691.RAZH-LfIAW7fCD4zR5XVYFXzd9sErruYW9edtvowNmWho130_provenance a np:Provenance . dgn-np:NP1287691.RAZH-LfIAW7fCD4zR5XVYFXzd9sErruYW9edtvowNmWho130_publicationInfo a np:PublicationInfo . } dgn-np:NP1287691.RAZH-LfIAW7fCD4zR5XVYFXzd9sErruYW9edtvowNmWho130_assertion { miriam-gene:5310 a ncit:C16612 . lld:C0085413 a ncit:C7057 . dgn-gda:DGNfe76b2594656e53542d0a694b1f7eba2 sio:SIO_000628 miriam-gene:5310, lld:C0085413; a sio:SIO_001121 . } dgn-np:NP1287691.RAZH-LfIAW7fCD4zR5XVYFXzd9sErruYW9edtvowNmWho130_provenance { dgn-np:NP1287691.RAZH-LfIAW7fCD4zR5XVYFXzd9sErruYW9edtvowNmWho130_assertion dcterms:description "[PKD1 lays immediately adjacent to TSC2 and deletions involving both genes, the PKD1/TSC2 contiguous gene syndrome (CGS), are characterized by severe ADPKD, plus TSC. mTOR inhibitors have proven effective in reducing angiomyolipoma (AML) in TSC and total kidney volume in ADPKD but without a positive effect on renal function.]. 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:26077033; 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:NP1287691.RAZH-LfIAW7fCD4zR5XVYFXzd9sErruYW9edtvowNmWho130_publicationInfo { this: dcterms:created "2016-05-13T12:51:29+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" . }