@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:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_head { this: np:hasAssertion dgn-np:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_assertion; np:hasProvenance dgn-np:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_provenance; np:hasPublicationInfo dgn-np:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_publicationInfo; a np:Nanopublication . dgn-np:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_assertion a np:Assertion . dgn-np:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_provenance a np:Provenance . dgn-np:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_publicationInfo a np:PublicationInfo . } dgn-np:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_assertion { miriam-gene:201163 a ncit:C16612 . lld:C0037286 a ncit:C7057 . dgn-gda:DGN0380d3dd94cd6197cbc33447f5d83fd0 sio:SIO_000628 miriam-gene:201163, lld:C0037286; a sio:SIO_001121 . } dgn-np:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_provenance { dgn-np:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_assertion dcterms:description "[Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant genodermatosis characterized by the presence of three skin tumors (fibrofolliculomas, trichodiscomas, and acrochordons), together with an increased risk for other tumors, especially renal tumors, caused by a mutation in folliculin, an oncogene suppressor protein.]. 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:23414156; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_publicationInfo { this: dcterms:created "2014-10-02T12:41:23+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }