@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:NP981560.RADUi_Iw_01rfVEPip_DR11mdFd5de_l4JbkI8HxpE6HA130_head { this: np:hasAssertion dgn-np:NP981560.RADUi_Iw_01rfVEPip_DR11mdFd5de_l4JbkI8HxpE6HA130_assertion; np:hasProvenance dgn-np:NP981560.RADUi_Iw_01rfVEPip_DR11mdFd5de_l4JbkI8HxpE6HA130_provenance; np:hasPublicationInfo dgn-np:NP981560.RADUi_Iw_01rfVEPip_DR11mdFd5de_l4JbkI8HxpE6HA130_publicationInfo; a np:Nanopublication . dgn-np:NP981560.RADUi_Iw_01rfVEPip_DR11mdFd5de_l4JbkI8HxpE6HA130_assertion a np:Assertion . dgn-np:NP981560.RADUi_Iw_01rfVEPip_DR11mdFd5de_l4JbkI8HxpE6HA130_provenance a np:Provenance . dgn-np:NP981560.RADUi_Iw_01rfVEPip_DR11mdFd5de_l4JbkI8HxpE6HA130_publicationInfo a np:PublicationInfo . } dgn-np:NP981560.RADUi_Iw_01rfVEPip_DR11mdFd5de_l4JbkI8HxpE6HA130_assertion { miriam-gene:5708 a ncit:C16612 . lld:C0026848 a ncit:C7057 . dgn-gda:DGNaefe4ba1a30c2809861488d9cf41400b sio:SIO_000628 miriam-gene:5708, lld:C0026848; a sio:SIO_001121 . } dgn-np:NP981560.RADUi_Iw_01rfVEPip_DR11mdFd5de_l4JbkI8HxpE6HA130_provenance { dgn-np:NP981560.RADUi_Iw_01rfVEPip_DR11mdFd5de_l4JbkI8HxpE6HA130_assertion dcterms:description "[Missense mutations that occur at the interface between two functional domains in the AAA protein p97 lead to suboptimal performance in its enzymatic activity and impaired intracellular functions, causing human disorders such as inclusion body myopathy associated with Paget's disease of the bone and frontotemporal dementia (IBMPFD).]. 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:22579784; 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:NP981560.RADUi_Iw_01rfVEPip_DR11mdFd5de_l4JbkI8HxpE6HA130_publicationInfo { this: dcterms:created "2016-05-13T12:49:09+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" . }