Annotation Detail
Information
- Associated Genes
- TGM1
- Associated Variants
-
TGM1 p.Arg142Cys (p.R142C)
(
ENST00000206765.11,
ENST00000544573.5 )
TGM1 p.Arg142Cys (p.R142C) ( ENST00000206765.11, ENST00000544573.5 ) - Associated Disease
- Congenital Nonbullous Ichthyosiform Erythroderma
- Source Database
- DisGeNET
- Description
- The approach was applied to detect the mutation sites, Arg142Cys and Gly529Ile, of transglutaminase 1 gene in autosomal recessive congenital ichthyosis.
- Pubmed
- 22386491
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.258120592080924
- Year of publication
- 2012
Drugs