Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Asp159Val (p.D159V)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Asp159Val (p.D159V) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
- Source Database
- DisGeNET
- Description
- Exploring the clinical and epidemiological complexity of GJB2-linked deafness.
- Pubmed
- 12239718
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- 2002
Drugs