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
- Sensorineural Hearing Loss (disorder)
- Source Database
- DisGeNET
- Description
- The G45E mutation was not reported previously in Caucasian patients but was the third most common GJB2 mutation (16% of disease alleles) in Japanese patients with autosomal recessive non-syndromic HL.
- Pubmed
- 15633193
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.344722343815082
- Year of publication
- 2005
Drugs