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
- Keratitis-Ichthyosis-Deafness Syndrome
- Source Database
- DisGeNET
- Description
- Here, we used the Xenopus oocyte expression system to examine the functional characteristics of a Cx26 mutation (G45E) that results in keratitis-ichthyosis-deafness syndrome (KIDS) with a fatal outcome.
- Pubmed
- 17428836
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0122148842436137
- Year of publication
- 2007
Drugs