Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Trp24Ter (p.W24*)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Trp24Ter (p.W24*) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Hearing Loss, Mixed Conductive-Sensorineural
- Source Database
- DisGeNET
- Description
- High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.
- Pubmed
- 16088916
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0646031655551122
- Year of publication
- 2005
Drugs