Annotation Detail
Information
- Associated Genes
- KRT10
- Associated Variants
-
KRT10 MUTATION
KRT10 MUTATION - Associated Disease
- Spots on skin
- Source Database
- DisGeNET
- Description
- We previously demonstrated that mutations in keratin 10 (KRT10) cause ichthyosis with confetti (IWC), a severe dominant disorder that is characterized by progressive development of hundreds of normal skin spots via revertant mosaicism.
- Pubmed
- 25774499
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs