Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Asp50Tyr (p.D50Y)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Asp50Asn (p.D50N) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Asp50Tyr (p.D50Y) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asp50Asn (p.D50N) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Hearing Loss, Mixed Conductive-Sensorineural
- Source Database
- DisGeNET
- Description
- Our study provides evidence for functionally intact semicircular canals and normal utricular function in subjects with the autosomal dominant D50N mutation of Cx 26, in contrast to saccular function which was generally compromised and hearing loss which was profound.
- Pubmed
- 16679758
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0646031655551122
- Year of publication
- 2006
Drugs