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.Ser17Phe (p.S17F) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Ser17Cys (p.S17C) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Asp50Tyr (p.D50Y) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asp50Asn (p.D50N) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Ser17Phe (p.S17F) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Ser17Cys (p.S17C) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Senter syndrome
- Source Database
- DisGeNET
- Description
- Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
- Pubmed
- 11912510
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.328414698034489
- Year of publication
- 2002
Drugs