@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:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_head { this: np:hasAssertion dgn-np:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_assertion; np:hasProvenance dgn-np:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_provenance; np:hasPublicationInfo dgn-np:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_publicationInfo; a np:Nanopublication . dgn-np:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_assertion a np:Assertion . dgn-np:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_provenance a np:Provenance . dgn-np:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_publicationInfo a np:PublicationInfo . } dgn-np:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_assertion { miriam-gene:5310 a ncit:C16612 . lld:C0085413 a ncit:C7057 . dgn-gda:DGN7b7a98e5f712236a31809a9764d4efda sio:SIO_000628 miriam-gene:5310, lld:C0085413; a sio:SIO_001121 . } dgn-np:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_provenance { dgn-np:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_assertion dcterms:description "[Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in two large genes, PKD1 and PKD2, but genetic testing is complicated by the large transcript sizes and the duplication of PKD1 exons 1-33 as six pseudogenes on chromosome 16.]. 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:25010725; 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:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_publicationInfo { this: dcterms:created "2016-05-13T12:50:50+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" . }