Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Gly12Cys (p.G12C)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Gly12Arg (p.G12R) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly12Cys (p.G12C) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly12Arg (p.G12R) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Keratitis-Ichthyosis-Deafness Syndrome
- Source Database
- DisGeNET
- Description
- Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.
- Year of publication
- 2012
- Pubmed
- 22011219
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0122148842436137
Drugs