@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:NP260656.RAr-gMES7ZBKaRULe2a1p0HC3lEZgPA-xMwnwHdfpHpIQ130_head { this: np:hasAssertion dgn-np:NP260656.RAr-gMES7ZBKaRULe2a1p0HC3lEZgPA-xMwnwHdfpHpIQ130_assertion; np:hasProvenance dgn-np:NP260656.RAr-gMES7ZBKaRULe2a1p0HC3lEZgPA-xMwnwHdfpHpIQ130_provenance; np:hasPublicationInfo dgn-np:NP260656.RAr-gMES7ZBKaRULe2a1p0HC3lEZgPA-xMwnwHdfpHpIQ130_publicationInfo; a np:Nanopublication . dgn-np:NP260656.RAr-gMES7ZBKaRULe2a1p0HC3lEZgPA-xMwnwHdfpHpIQ130_assertion a np:Assertion . dgn-np:NP260656.RAr-gMES7ZBKaRULe2a1p0HC3lEZgPA-xMwnwHdfpHpIQ130_provenance a np:Provenance . dgn-np:NP260656.RAr-gMES7ZBKaRULe2a1p0HC3lEZgPA-xMwnwHdfpHpIQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP260656.RAr-gMES7ZBKaRULe2a1p0HC3lEZgPA-xMwnwHdfpHpIQ130_assertion { miriam-gene:595 a ncit:C16612 . lld:C0031511 a ncit:C7057 . dgn-gda:DGN84093c5bc322e94752519b1c8664287a sio:SIO_000628 miriam-gene:595, lld:C0031511; a sio:SIO_001122 . } dgn-np:NP260656.RAr-gMES7ZBKaRULe2a1p0HC3lEZgPA-xMwnwHdfpHpIQ130_provenance { dgn-np:NP260656.RAr-gMES7ZBKaRULe2a1p0HC3lEZgPA-xMwnwHdfpHpIQ130_assertion dcterms:description "[A type 2C pVHL mutant (V188L), which is associated with a PHE only phenotype (and had been shown previously to retain the ability to promote HIF ubiquitylation), retained the ability to suppress CCND1expression suggesting that loss of pVHL-mediated suppression of cyclin D1 is not necessary for PHE development in VHL disease.]. 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:12097293; 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:NP260656.RAr-gMES7ZBKaRULe2a1p0HC3lEZgPA-xMwnwHdfpHpIQ130_publicationInfo { this: dcterms:created "2015-08-25T14:40:08+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" . }