Annotation Detail
Information
- Associated Genes
- KRT10
- Associated Variants
-
KRT10 MUTATION
KRT10 MUTATION - Associated Disease
- Congenital reticular ichthyosiform erythroderma
- Source Database
- DisGeNET
- Description
- Because reversion is not observed with other disease-causing keratin mutations, the results of this study implicate KRT1 and KRT10 C-terminal frameshift mutations in the high frequency of revertant mosaicism in IWC.
- Pubmed
- 25774499
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 8
- Original source reporting the Gene Disease association
- BeFree,CTD_human,ORPHANET
- DisGENET score for the Gene Disease association
- 0.241085767488321
Drugs