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- source_evidence_literature type ECO_0000212 NP388557.RA8Bed1MtYipaxFcjkoKP8Kixipw4_EGSSm7LqVW6Sb3M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP388557.RA8Bed1MtYipaxFcjkoKP8Kixipw4_EGSSm7LqVW6Sb3M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP388557.RA8Bed1MtYipaxFcjkoKP8Kixipw4_EGSSm7LqVW6Sb3M130_provenance.
- NP388557.RA8Bed1MtYipaxFcjkoKP8Kixipw4_EGSSm7LqVW6Sb3M130_assertion description "[BOR syndrome is an autosomal dominant trait encompassing branchial, otic and renal anomalies because of mutations in EYA1, SIX1 and SIX5.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP388557.RA8Bed1MtYipaxFcjkoKP8Kixipw4_EGSSm7LqVW6Sb3M130_provenance.
- NP388557.RA8Bed1MtYipaxFcjkoKP8Kixipw4_EGSSm7LqVW6Sb3M130_assertion evidence source_evidence_literature NP388557.RA8Bed1MtYipaxFcjkoKP8Kixipw4_EGSSm7LqVW6Sb3M130_provenance.
- NP388557.RA8Bed1MtYipaxFcjkoKP8Kixipw4_EGSSm7LqVW6Sb3M130_assertion SIO_000772 18177466 NP388557.RA8Bed1MtYipaxFcjkoKP8Kixipw4_EGSSm7LqVW6Sb3M130_provenance.
- NP388557.RA8Bed1MtYipaxFcjkoKP8Kixipw4_EGSSm7LqVW6Sb3M130_assertion wasDerivedFrom befree-20150227 NP388557.RA8Bed1MtYipaxFcjkoKP8Kixipw4_EGSSm7LqVW6Sb3M130_provenance.
- NP388557.RA8Bed1MtYipaxFcjkoKP8Kixipw4_EGSSm7LqVW6Sb3M130_assertion wasGeneratedBy ECO_0000203 NP388557.RA8Bed1MtYipaxFcjkoKP8Kixipw4_EGSSm7LqVW6Sb3M130_provenance.
- befree-20150227 importedOn "2015-02-27" NP388557.RA8Bed1MtYipaxFcjkoKP8Kixipw4_EGSSm7LqVW6Sb3M130_provenance.