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
- Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient.
- Pubmed
- 17229601
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.482171534976642
- Year of publication
- 2006
Drugs