Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance.
- NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion 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." NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance.
- NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion evidence source_evidence_literature NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance.
- NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion SIO_000772 16648378 NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance.
- NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion wasDerivedFrom befree-20140225 NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance.
- NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_assertion wasGeneratedBy ECO_0000203 NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP495580.RAt5YVb94Z9-u1ZDUT4V5V17atOUHUMdo5o36oCxjMGnY130_provenance.