@prefix dct: . @prefix ns1: . @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 np: . @prefix dgn-gda: . @prefix dgn-void: . ns1:NP1414030.RA5zzkcsC7YWAid9yrSVBxXJ6Pn7RFbf36OtAlaGAYZT0130_head { this: np:hasAssertion ns1:NP1414030.RA5zzkcsC7YWAid9yrSVBxXJ6Pn7RFbf36OtAlaGAYZT0130_assertion; np:hasProvenance ns1:NP1414030.RA5zzkcsC7YWAid9yrSVBxXJ6Pn7RFbf36OtAlaGAYZT0130_provenance; np:hasPublicationInfo ns1:NP1414030.RA5zzkcsC7YWAid9yrSVBxXJ6Pn7RFbf36OtAlaGAYZT0130_publicationInfo; a np:Nanopublication . ns1:NP1414030.RA5zzkcsC7YWAid9yrSVBxXJ6Pn7RFbf36OtAlaGAYZT0130_assertion a np:Assertion . ns1:NP1414030.RA5zzkcsC7YWAid9yrSVBxXJ6Pn7RFbf36OtAlaGAYZT0130_provenance a np:Provenance . ns1:NP1414030.RA5zzkcsC7YWAid9yrSVBxXJ6Pn7RFbf36OtAlaGAYZT0130_publicationInfo a np:PublicationInfo . } ns1:NP1414030.RA5zzkcsC7YWAid9yrSVBxXJ6Pn7RFbf36OtAlaGAYZT0130_assertion { miriam-gene:7428 a ncit:C16612 . lld:C0031511 a ncit:C7057 . dgn-gda:DGNbaa5e48d54a729193888503fe37ee49a sio:SIO_000628 miriam-gene:7428, lld:C0031511; a sio:SIO_001121 . } ns1:NP1414030.RA5zzkcsC7YWAid9yrSVBxXJ6Pn7RFbf36OtAlaGAYZT0130_provenance { ns1:NP1414030.RA5zzkcsC7YWAid9yrSVBxXJ6Pn7RFbf36OtAlaGAYZT0130_assertion dct:description "[The von Hippel-Lindau (VHL) tumour suppressorgene product is believed to be involved in the down-regulation of transcriptional elongation by preventing the association of elongin B and C with the catalytic subunit elongin A. Alterations in the human VHL gene lead to VHL disease which is associated with various rare neoplasias, including haemangioblastoma of the central nervous system, retinal angioma, clear cell renal carcinoma and pheochromocytoma.]. 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:9931330; 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 . } ns1:NP1414030.RA5zzkcsC7YWAid9yrSVBxXJ6Pn7RFbf36OtAlaGAYZT0130_publicationInfo { this: dct:created "2016-05-13T12:52:27+02:00"^^xsd:dateTime; dct:rights ; dct:rightsHolder dgn-void:IBIGroup; dct: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" . }