Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Glu47Ter (p.E47*)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Glu47Ter (p.E47*) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Hearing Loss, Mixed Conductive-Sensorineural
- Source Database
- DisGeNET
- Description
- A total of 25 families with non-syndromic hearing loss were screened for the common p.E47X mutation in the GJB2 gene by direct dideoxy sequencing.
- Pubmed
- 22429511
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0646031655551122
- Year of publication
- 2012
Drugs