http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk#head http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk#assertion http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk#provenance http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk#assertion http://rdf.disgenet.org/resource/gda/DGN62bbd9dfb10297da81c9887949d57d50 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4976 http://rdf.disgenet.org/resource/gda/DGN62bbd9dfb10297da81c9887949d57d50 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0162292 http://rdf.disgenet.org/resource/gda/DGN62bbd9dfb10297da81c9887949d57d50 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk#provenance http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk#assertion http://purl.org/dc/terms/description [Although OPA1 is a nuclear gene, the gene product localizes to mitochondria, suggesting that mitochondrial dysfunction may be the final common pathway for many forms of syndromic and nonsyndromic optic atrophy, hearing loss, and external ophthalmoplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15531309 http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk http://purl.org/dc/terms/created 2017-10-17T13:15:07+02:00 http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP775750.RAuwq7jfh9kPcQLZ63fbXXFejiEBUHM59TI_mdEGd08Kk http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0