Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.His73Arg (p.H73R)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.His73Arg (p.H73R) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Mutilating keratoderma
- Source Database
- DisGeNET
- Description
- Here, we report on a family with a novel GJB2 mutation (p.His73Arg) causing a syndrome of focal palmoplantar keratoderma with severe progressive sensorineural hearing impairment, a phenotype reminiscent of Vohwinkel syndrome.
- Pubmed
- 17993581
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.482171534976642
- Year of publication
- 2008
Drugs