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
- Multisystem disorder
- Source Database
- DisGeNET
- Description
- Dominantly inherited GJB2 mutations, including the p.Gly45Glu found in our case, have been shown to cause the severe multisystem disorder keratitis-ichthyosis-deafness syndrome.
- Pubmed
- 25692760
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2015
Drugs