Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP547524.RAXRcUSsIF49whb0Mz51wVWDcmftEen8hgsuKv5qPypN8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP547524.RAXRcUSsIF49whb0Mz51wVWDcmftEen8hgsuKv5qPypN8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP547524.RAXRcUSsIF49whb0Mz51wVWDcmftEen8hgsuKv5qPypN8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP547524.RAXRcUSsIF49whb0Mz51wVWDcmftEen8hgsuKv5qPypN8130_provenance.
- NP547524.RAXRcUSsIF49whb0Mz51wVWDcmftEen8hgsuKv5qPypN8130_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." NP547524.RAXRcUSsIF49whb0Mz51wVWDcmftEen8hgsuKv5qPypN8130_provenance.
- NP547524.RAXRcUSsIF49whb0Mz51wVWDcmftEen8hgsuKv5qPypN8130_assertion evidence source_evidence_literature NP547524.RAXRcUSsIF49whb0Mz51wVWDcmftEen8hgsuKv5qPypN8130_provenance.
- NP547524.RAXRcUSsIF49whb0Mz51wVWDcmftEen8hgsuKv5qPypN8130_assertion SIO_000772 16648378 NP547524.RAXRcUSsIF49whb0Mz51wVWDcmftEen8hgsuKv5qPypN8130_provenance.
- NP547524.RAXRcUSsIF49whb0Mz51wVWDcmftEen8hgsuKv5qPypN8130_assertion wasDerivedFrom befree-2016 NP547524.RAXRcUSsIF49whb0Mz51wVWDcmftEen8hgsuKv5qPypN8130_provenance.
- NP547524.RAXRcUSsIF49whb0Mz51wVWDcmftEen8hgsuKv5qPypN8130_assertion wasGeneratedBy ECO_0000203 NP547524.RAXRcUSsIF49whb0Mz51wVWDcmftEen8hgsuKv5qPypN8130_provenance.
- befree-2016 importedOn "2016-02-19" NP547524.RAXRcUSsIF49whb0Mz51wVWDcmftEen8hgsuKv5qPypN8130_provenance.