Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Gly45Glu (p.G45E)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Gly45Glu (p.G45E) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Senter syndrome
- Source Database
- DisGeNET
- Description
- Substitution of glycine at the position 45 of Cx26 to glutamic acid (p.G45E mutation) causes the Keratitis-ichthyosis-deafness (KID) syndrome.
- Pubmed
- 23756814
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.328414698034489
- Year of publication
- 2013
Drugs