Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Asp50Tyr (p.D50Y)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Asp50Asn (p.D50N) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Asp50Tyr (p.D50Y) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asp50Asn (p.D50N) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Keratitis-Ichthyosis-Deafness Syndrome
- Source Database
- DisGeNET
- Description
- Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26.
- Pubmed
- 19793313
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0122148842436137
- Year of publication
- 2009
Drugs