Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Arg75Gln (p.R75Q)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Arg75Gln (p.R75Q) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- palmoplantar keratosis
- Source Database
- DisGeNET
- Description
- R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma.
- Pubmed
- 24975403
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.132701686160982
- Year of publication
- 2014
Drugs