Annotation Detail
Information
- Associated Genes
- KRT5
- Associated Variants
-
KRT5 p.Pro25Leu (p.P25L)
(
ENST00000252242.9 )
KRT5 p.Pro25Leu (p.P25L) ( ENST00000252242.9 ) - Associated Disease
- epidermolysis bullosa simplex with mottled pigmentation
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.482171534976642
- Year of publication
- NA
Drugs