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
- nonsyndromic deafness
- Source Database
- DisGeNET
- Description
- Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.
- Pubmed
- 15996214
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0343212280139571
- Year of publication
- 2005
Drugs