Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Arg75Trp (p.R75W)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Arg75Trp (p.R75W) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Hearing Loss, Mixed Conductive-Sensorineural
- Source Database
- DisGeNET
- Description
- In a mouse model, this siRNA duplex selectively suppressed GJB2(R75W) expression by >70% of control levels, thereby preventing hearing loss.
- Pubmed
- 15857852
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0646031655551122
- Year of publication
- 2005
Drugs