Annotation Detail
Information
- Associated Genes
- TGM1
- Associated Variants
-
TGM1 p.Arg307Trp (p.R307W)
(
ENST00000206765.11,
ENST00000544573.5 )
TGM1 p.Arg307Gly (p.R307G) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg307Trp (p.R307W) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg307Gly (p.R307G) ( ENST00000206765.11, ENST00000544573.5 ) - Associated Disease
- Congenital ichthyosis
- Source Database
- DisGeNET
- Description
- Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.
- Pubmed
- 19890349
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.324614511825365
- Year of publication
- 2010
Drugs