Annotation Detail
Information
- Associated Genes
- KRT2
- Associated Variants
-
KRT2 p.Glu487Lys (p.E487K)
(
ENST00000309680.4 )
KRT2 p.Glu487Lys (p.E487K) ( ENST00000309680.4 ) - Associated Disease
- ICHTHYOSIS EXFOLIATIVA
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12027144187208
- Year of publication
- NA
Drugs