@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:NP1236695.RAM7A-vIdbCV727Z62lKsZtU-ujVR7e4km6ldI_g5Lkf4130_head { this: np:hasAssertion dgn-np:NP1236695.RAM7A-vIdbCV727Z62lKsZtU-ujVR7e4km6ldI_g5Lkf4130_assertion; np:hasProvenance dgn-np:NP1236695.RAM7A-vIdbCV727Z62lKsZtU-ujVR7e4km6ldI_g5Lkf4130_provenance; np:hasPublicationInfo dgn-np:NP1236695.RAM7A-vIdbCV727Z62lKsZtU-ujVR7e4km6ldI_g5Lkf4130_publicationInfo; a np:Nanopublication . dgn-np:NP1236695.RAM7A-vIdbCV727Z62lKsZtU-ujVR7e4km6ldI_g5Lkf4130_assertion a np:Assertion . dgn-np:NP1236695.RAM7A-vIdbCV727Z62lKsZtU-ujVR7e4km6ldI_g5Lkf4130_provenance a np:Provenance . dgn-np:NP1236695.RAM7A-vIdbCV727Z62lKsZtU-ujVR7e4km6ldI_g5Lkf4130_publicationInfo a np:PublicationInfo . } dgn-np:NP1236695.RAM7A-vIdbCV727Z62lKsZtU-ujVR7e4km6ldI_g5Lkf4130_assertion { miriam-gene:7415 a ncit:C16612 . lld:C0026848 a ncit:C7057 . dgn-gda:DGN88778dda1f9b31e4d793f761d1516299 sio:SIO_000628 miriam-gene:7415, lld:C0026848; a sio:SIO_001121 . } dgn-np:NP1236695.RAM7A-vIdbCV727Z62lKsZtU-ujVR7e4km6ldI_g5Lkf4130_provenance { dgn-np:NP1236695.RAM7A-vIdbCV727Z62lKsZtU-ujVR7e4km6ldI_g5Lkf4130_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:NP1236695.RAM7A-vIdbCV727Z62lKsZtU-ujVR7e4km6ldI_g5Lkf4130_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" . }