Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Gly45Glu (p.G45E)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Gly45Glu (p.G45E) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Porokeratotic eccrine ostial and dermal duct nevus
- Source Database
- DisGeNET
- Description
- A Somatic p.G45E GJB2 Mutation Causing Porokeratotic Eccrine Ostial and Dermal Duct Nevus.
- Pubmed
- 25692760
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.120542883744161
- Year of publication
- 2015
Drugs