http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_head http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_assertion http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_provenance http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_assertion http://identifiers.org/ncbigene/4976 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0917796 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN04539636f01f3c4fa4918c50d8d5b990 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4976 http://rdf.disgenet.org/resource/gda/DGN04539636f01f3c4fa4918c50d8d5b990 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0917796 http://rdf.disgenet.org/resource/gda/DGN04539636f01f3c4fa4918c50d8d5b990 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_provenance http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_assertion http://purl.org/dc/terms/description [Heterozygous optic atrophy type1 (OPA1) mutations are responsible for dominant optic atrophy, and the down regulation of OPA1 expression in patients with Leber hereditary optic neuropathy may imply that Opa1 protein levels in mitochondria play a role in other spontaneous optic neuropathies as well.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21552501 http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks http://purl.org/dc/terms/created 2015-08-25T14:43:40+02:00 http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP602714.RAYSn-YfwJJVCVWHi25PVpolnDh-bSZx_MApAbpz2Ieks http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0