@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:NP1236698.RAuD3TUgSRCo0k0iQwqcJLAskQCDq2Yi4f2_2rWfkTDj8130_head { this: np:hasAssertion dgn-np:NP1236698.RAuD3TUgSRCo0k0iQwqcJLAskQCDq2Yi4f2_2rWfkTDj8130_assertion; np:hasProvenance dgn-np:NP1236698.RAuD3TUgSRCo0k0iQwqcJLAskQCDq2Yi4f2_2rWfkTDj8130_provenance; np:hasPublicationInfo dgn-np:NP1236698.RAuD3TUgSRCo0k0iQwqcJLAskQCDq2Yi4f2_2rWfkTDj8130_publicationInfo; a np:Nanopublication . dgn-np:NP1236698.RAuD3TUgSRCo0k0iQwqcJLAskQCDq2Yi4f2_2rWfkTDj8130_assertion a np:Assertion . dgn-np:NP1236698.RAuD3TUgSRCo0k0iQwqcJLAskQCDq2Yi4f2_2rWfkTDj8130_provenance a np:Provenance . dgn-np:NP1236698.RAuD3TUgSRCo0k0iQwqcJLAskQCDq2Yi4f2_2rWfkTDj8130_publicationInfo a np:PublicationInfo . } dgn-np:NP1236698.RAuD3TUgSRCo0k0iQwqcJLAskQCDq2Yi4f2_2rWfkTDj8130_assertion { miriam-gene:7415 a ncit:C16612 . lld:C0029401 a ncit:C7057 . dgn-gda:DGN8b713c8922e488f28c820977ffee4ff6 sio:SIO_000628 miriam-gene:7415, lld:C0029401; a sio:SIO_001121 . } dgn-np:NP1236698.RAuD3TUgSRCo0k0iQwqcJLAskQCDq2Yi4f2_2rWfkTDj8130_provenance { dgn-np:NP1236698.RAuD3TUgSRCo0k0iQwqcJLAskQCDq2Yi4f2_2rWfkTDj8130_assertion dcterms:description "[Dominant mutations in the valosin-containing protein (VCP) gene cause inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia, which is characterized by progressive muscle weakness, dysfunction in bone remodeling, and frontotemporal dementia.]. 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:25388089; 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:NP1236698.RAuD3TUgSRCo0k0iQwqcJLAskQCDq2Yi4f2_2rWfkTDj8130_publicationInfo { this: dcterms:created "2016-05-13T12:51:06+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" . }