http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc130_head http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc130_assertion http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc130_assertion http://identifiers.org/ncbigene/5428 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/C0021364 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/gene-disease-association.ttl#DGN6e3d171c26ebe3012f803e8f0baaee30 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5428 http://rdf.disgenet.org/gene-disease-association.ttl#DGN6e3d171c26ebe3012f803e8f0baaee30 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0021364 http://rdf.disgenet.org/gene-disease-association.ttl#DGN6e3d171c26ebe3012f803e8f0baaee30 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc130_assertion http://purl.org/dc/terms/description [To date over 40 disease mutations and 9 nonsynonymous polymorphisms in POLG have been found to be associated with autosomal recessive and dominant progressive external ophthalmoplegia (PEO), Alpers syndrome, sensory ataxia, neuropathy, dysarthria and ophthalmoparesis (SANDO), Parkinsonism, and male infertility.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15913923 http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc http://purl.org/dc/terms/created 2014-10-02T12:39:50+02:00 http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP775607.RAKCcCEUZ1XWL8EHh-iSvUE9tL66vSh4vlEMsM6m0HbCc http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0