@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:NP602647.RANGQICzf-gqQfeHw7sFahx_zlrk9qiW7ZsNGOYPMa4bI130_head { this: np:hasAssertion dgn-np:NP602647.RANGQICzf-gqQfeHw7sFahx_zlrk9qiW7ZsNGOYPMa4bI130_assertion; np:hasProvenance dgn-np:NP602647.RANGQICzf-gqQfeHw7sFahx_zlrk9qiW7ZsNGOYPMa4bI130_provenance; np:hasPublicationInfo dgn-np:NP602647.RANGQICzf-gqQfeHw7sFahx_zlrk9qiW7ZsNGOYPMa4bI130_publicationInfo; a np:Nanopublication . dgn-np:NP602647.RANGQICzf-gqQfeHw7sFahx_zlrk9qiW7ZsNGOYPMa4bI130_assertion a np:Assertion . dgn-np:NP602647.RANGQICzf-gqQfeHw7sFahx_zlrk9qiW7ZsNGOYPMa4bI130_provenance a np:Provenance . dgn-np:NP602647.RANGQICzf-gqQfeHw7sFahx_zlrk9qiW7ZsNGOYPMa4bI130_publicationInfo a np:PublicationInfo . } dgn-np:NP602647.RANGQICzf-gqQfeHw7sFahx_zlrk9qiW7ZsNGOYPMa4bI130_assertion { miriam-gene:4976 a ncit:C16612 . lld:C0086543 a ncit:C7057 . dgn-gda:DGN61c2ba714de4d854290297602b20ab3b sio:SIO_000628 miriam-gene:4976, lld:C0086543; a sio:SIO_001121 . } dgn-np:NP602647.RANGQICzf-gqQfeHw7sFahx_zlrk9qiW7ZsNGOYPMa4bI130_provenance { dgn-np:NP602647.RANGQICzf-gqQfeHw7sFahx_zlrk9qiW7ZsNGOYPMa4bI130_assertion dcterms:description "[We found a common coupling defect of oxidative phosphorylation in fibroblasts of patients affected by autosomal dominant optic atrophy (mutations of OPA1), autosomal dominant optic atrophy associated with cataract (mutations of OPA3), and Leber's hereditary optic neuropathy, a disorder associated with point mutations of mitochondrial DNA complex I genes.]. 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:18496845; 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:NP602647.RANGQICzf-gqQfeHw7sFahx_zlrk9qiW7ZsNGOYPMa4bI130_publicationInfo { this: dcterms:created "2015-08-25T14:43:40+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" . }