http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY130_head http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY130_assertion http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY130_provenance http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY130_assertion http://identifiers.org/ncbigene/9968 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/DGN6fef3906262c7ce5b14a645810125e0e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9968 http://rdf.disgenet.org/resource/gda/DGN6fef3906262c7ce5b14a645810125e0e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0917796 http://rdf.disgenet.org/resource/gda/DGN6fef3906262c7ce5b14a645810125e0e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY130_provenance http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY130_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/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY130_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/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21552501 http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY130_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/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY http://purl.org/dc/terms/created 2015-08-25T14:46:06+02:00 http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP833615.RAGFd6ONwk4CYoFKVRhwk4uRHc2unOn7pxI5MCvbkV2HY 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