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
- In both families, the heterozygous transition mutation 74C-->T of the keratin 5 gene, which results in amino acid substitution P25L, completely co-segregated with the EBS-MP phenotype.
- Pubmed
- 16581562
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.482171534976642
- Year of publication
- 2006
Drugs