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- source_evidence_literature type ECO_0000212 NP743751.RA7J4Kf_0BbCGjYSAoYvAVo8SMhFbhV9S6eRnSx8Bm9YI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP743751.RA7J4Kf_0BbCGjYSAoYvAVo8SMhFbhV9S6eRnSx8Bm9YI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP743751.RA7J4Kf_0BbCGjYSAoYvAVo8SMhFbhV9S6eRnSx8Bm9YI130_provenance.
- NP743751.RA7J4Kf_0BbCGjYSAoYvAVo8SMhFbhV9S6eRnSx8Bm9YI130_assertion description "[Mutations of the gap junction beta 2 (GJB2) gene coding for the protein connexin 26 account for up to 50% of nonsyndromic sensorineural hearing loss (NSHL), with specific mutations associated with distinct ethnic groups.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP743751.RA7J4Kf_0BbCGjYSAoYvAVo8SMhFbhV9S6eRnSx8Bm9YI130_provenance.
- NP743751.RA7J4Kf_0BbCGjYSAoYvAVo8SMhFbhV9S6eRnSx8Bm9YI130_assertion evidence source_evidence_literature NP743751.RA7J4Kf_0BbCGjYSAoYvAVo8SMhFbhV9S6eRnSx8Bm9YI130_provenance.
- NP743751.RA7J4Kf_0BbCGjYSAoYvAVo8SMhFbhV9S6eRnSx8Bm9YI130_assertion SIO_000772 12169891 NP743751.RA7J4Kf_0BbCGjYSAoYvAVo8SMhFbhV9S6eRnSx8Bm9YI130_provenance.
- NP743751.RA7J4Kf_0BbCGjYSAoYvAVo8SMhFbhV9S6eRnSx8Bm9YI130_assertion wasDerivedFrom befree-20140225 NP743751.RA7J4Kf_0BbCGjYSAoYvAVo8SMhFbhV9S6eRnSx8Bm9YI130_provenance.
- NP743751.RA7J4Kf_0BbCGjYSAoYvAVo8SMhFbhV9S6eRnSx8Bm9YI130_assertion wasGeneratedBy ECO_0000203 NP743751.RA7J4Kf_0BbCGjYSAoYvAVo8SMhFbhV9S6eRnSx8Bm9YI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP743751.RA7J4Kf_0BbCGjYSAoYvAVo8SMhFbhV9S6eRnSx8Bm9YI130_provenance.