http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_head http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion http://identifiers.org/ncbigene/7466 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/C0029124 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#DGN54a7ae92a3621ff5593d228f688f86cb http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7466 http://rdf.disgenet.org/gene-disease-association.ttl#DGN54a7ae92a3621ff5593d228f688f86cb http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0029124 http://rdf.disgenet.org/gene-disease-association.ttl#DGN54a7ae92a3621ff5593d228f688f86cb http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion http://purl.org/dc/terms/description [Mutations in the WFS1 gene, at 4p16.3, are associated with either optic atrophy (OA) as part of the autosomal recessive Wolfram syndrome or with autosomal dominant progressive low frequency sensorineural hearing loss (LFSNHL) without any ophthalmological abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_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#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16648378 http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_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#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_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#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY http://purl.org/dc/terms/created 2014-10-02T12:36:55+02:00 http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY 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