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- source_evidence_literature type ECO_0000212 NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_provenance.
- NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_assertion description "[This is the first example of autosomal dominant optic atrophy and hearing loss associated with a WFS1 mutation, supporting the notion that mutations in WFS1 as well as in OPA1 may lead to ADOA combined with impaired hearing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_provenance.
- NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_assertion evidence source_evidence_literature NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_provenance.
- NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_assertion SIO_000772 16648378 NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_provenance.
- NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_assertion wasDerivedFrom befree-20150227 NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_provenance.
- NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_assertion wasGeneratedBy ECO_0000203 NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP833533.RALKM-XArhae6oG80tjqAXvFtGIjrtDjx6E9tdyujCxxk130_provenance.