[ { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/gda/DGN5f4f62bf6817acd1f4c55f0dd39c78fc", "@type" : [ "http://semanticscience.org/resource/SIO_001122" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/4976" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0338508" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP775918.RA-FQO-V855z2lWxQK4CKbVt8AORhh-GP1C8mXKuFqeeY#assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP775918.RA-FQO-V855z2lWxQK4CKbVt8AORhh-GP1C8mXKuFqeeY", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP775918.RA-FQO-V855z2lWxQK4CKbVt8AORhh-GP1C8mXKuFqeeY#assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP775918.RA-FQO-V855z2lWxQK4CKbVt8AORhh-GP1C8mXKuFqeeY#provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP775918.RA-FQO-V855z2lWxQK4CKbVt8AORhh-GP1C8mXKuFqeeY#publicationInfo" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP775918.RA-FQO-V855z2lWxQK4CKbVt8AORhh-GP1C8mXKuFqeeY#head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP775918.RA-FQO-V855z2lWxQK4CKbVt8AORhh-GP1C8mXKuFqeeY#assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[Since more and more evidence shows that other cell types are affected as well, we would like to discuss the pathology of dominant optic atrophy, which is caused by heterozygous sequence variants in OPA1, in the light of the current view on OPA1 protein function in mitochondrial quality control, in particular on its function in mitochondrial fusion and cytochrome C release.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." } ], "http://purl.org/ontology/wi/core#evidence" : [ { "@id" : "http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature" } ], "http://semanticscience.org/resource/SIO_000772" : [ { "@id" : "http://identifiers.org/pubmed/24067127" } ], "http://www.w3.org/ns/prov#wasDerivedFrom" : [ { "@id" : "http://rdf.disgenet.org/v5.0.0/void/BEFREE" } ], "http://www.w3.org/ns/prov#wasGeneratedBy" : [ { "@id" : "http://purl.obolibrary.org/obo/ECO_0000203" } ] }, { "@id" : "http://rdf.disgenet.org/v5.0.0/void/BEFREE", "http://purl.org/pav/importedOn" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#date", "@value" : "2017-02-19" } ] }, { "@id" : "http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature", "@type" : [ "http://purl.obolibrary.org/obo/ECO_0000212" ], "http://www.w3.org/2000/01/rdf-schema#comment" : [ { "@language" : "en", "@value" : "Gene-disease associations inferred from text-mining the literature." } ], "http://www.w3.org/2000/01/rdf-schema#label" : [ { "@language" : "en", "@value" : "DisGeNET evidence - LITERATURE" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP775918.RA-FQO-V855z2lWxQK4CKbVt8AORhh-GP1C8mXKuFqeeY#provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP775918.RA-FQO-V855z2lWxQK4CKbVt8AORhh-GP1C8mXKuFqeeY", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2017-10-17T13:15:07+02:00" } ], "http://purl.org/dc/terms/rights" : [ { "@id" : "http://opendatacommons.org/licenses/odbl/1.0/" } ], "http://purl.org/dc/terms/rightsHolder" : [ { "@id" : "http://rdf.disgenet.org/v5.0.0/void/IBIGroup" } ], "http://purl.org/dc/terms/subject" : [ { "@id" : "http://semanticscience.org/resource/SIO_000983" } ], "http://purl.org/net/provenance/ns#usedData" : [ { "@id" : "http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf" } ], "http://purl.org/pav/authoredBy" : [ { "@id" : "http://orcid.org/0000-0001-5999-6269" }, { "@id" : "http://orcid.org/0000-0002-7534-7661" }, { "@id" : "http://orcid.org/0000-0002-9383-528X" }, { "@id" : "http://orcid.org/0000-0003-0169-8159" }, { "@id" : "http://orcid.org/0000-0003-1244-7654" } ], "http://purl.org/pav/createdBy" : [ { "@id" : "http://orcid.org/0000-0003-0169-8159" } ], "http://purl.org/pav/version" : [ { "@value" : "v5.0.0.0" } ] }, { "@id" : "http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf", "http://purl.org/pav/version" : [ { "@value" : "v5.0.0" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP775918.RA-FQO-V855z2lWxQK4CKbVt8AORhh-GP1C8mXKuFqeeY#publicationInfo" } ]