Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Arg75Gln (p.R75Q)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Arg75Trp (p.R75W) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Arg75Gln (p.R75Q) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg75Trp (p.R75W) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- palmoplantar keratosis
- Source Database
- DisGeNET
- Description
- Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.
- Pubmed
- 20583176
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.132701686160982
- Year of publication
- 2010
Drugs