Annotation Detail

Information
Associated Genes
KRT10
Associated Variants
KRT10 MUTATION
KRT10 MUTATION
Associated Disease
Skin Diseases, Genetic
Source Database
DisGeNET
Description
Ichthyosis with confetti (IWC) is a genodermatosis caused by dominant negative mutations in the gene encoding keratin 10 (KRT10).
Pubmed
25210931
Section of the abstract supporting the evidence
IMPORTANCE
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
1
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Drugs