@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:NP966187.RAun_6KmyGcc0edk9mdvFJ70CJ1epKFfkv33dAtVdDCfQ130_head { this: np:hasAssertion dgn-np:NP966187.RAun_6KmyGcc0edk9mdvFJ70CJ1epKFfkv33dAtVdDCfQ130_assertion; np:hasProvenance dgn-np:NP966187.RAun_6KmyGcc0edk9mdvFJ70CJ1epKFfkv33dAtVdDCfQ130_provenance; np:hasPublicationInfo dgn-np:NP966187.RAun_6KmyGcc0edk9mdvFJ70CJ1epKFfkv33dAtVdDCfQ130_publicationInfo; a np:Nanopublication . dgn-np:NP966187.RAun_6KmyGcc0edk9mdvFJ70CJ1epKFfkv33dAtVdDCfQ130_assertion a np:Assertion . dgn-np:NP966187.RAun_6KmyGcc0edk9mdvFJ70CJ1epKFfkv33dAtVdDCfQ130_provenance a np:Provenance . dgn-np:NP966187.RAun_6KmyGcc0edk9mdvFJ70CJ1epKFfkv33dAtVdDCfQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP966187.RAun_6KmyGcc0edk9mdvFJ70CJ1epKFfkv33dAtVdDCfQ130_assertion { miriam-gene:4724 a ncit:C16612 . lld:C0085584 a ncit:C7057 . dgn-gda:DGN23778769f4c50ff007d147cbdcc17061 sio:SIO_000628 miriam-gene:4724, lld:C0085584; a sio:SIO_001121 . } dgn-np:NP966187.RAun_6KmyGcc0edk9mdvFJ70CJ1epKFfkv33dAtVdDCfQ130_provenance { dgn-np:NP966187.RAun_6KmyGcc0edk9mdvFJ70CJ1epKFfkv33dAtVdDCfQ130_assertion dcterms:description "[Examples of complex I dysfunction are herein presented: homozygous mutations in the nuclear NDUFS1 and NDUFS4 genes for structural components of complex I; an autosomic recessive form of encephalopathy associated with enhanced proteolytic degradation of complex I; familial cases of Parkinson associated to mutations in the PINK1 and Parkin genes, in particular, homoplasmic mutations in the ND5 and ND6 mitochondrial genes of the complex I, coexistent with mutation in the PINK1 gene.]. 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:22399432; 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:NP966187.RAun_6KmyGcc0edk9mdvFJ70CJ1epKFfkv33dAtVdDCfQ130_publicationInfo { this: dcterms:created "2016-05-13T12:49:02+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" . }