Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Val37Phe (p.V37F)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Val37Ile (p.V37I) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Val37Phe (p.V37F) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val37Ile (p.V37I) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Sensorineural Hearing Loss (disorder)
- Source Database
- DisGeNET
- Description
- V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.
- Pubmed
- 17036313
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.344722343815082
- Year of publication
- 2006
Drugs