Annotation Detail
Information
- Associated Genes
- TGM1
- Associated Variants
-
TGM1 p.Arg396Leu (p.R396L)
(
ENST00000206765.11,
ENST00000544573.5 )
TGM1 p.Arg396His (p.R396H) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg396Leu (p.R396L) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Arg396His (p.R396H) ( ENST00000206765.11, ENST00000544573.5 ) - Associated Disease
- Congenital ichthyosis
- Source Database
- DisGeNET
- Description
- Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.
- Pubmed
- 9326318
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.324614511825365
- Year of publication
- 1997
Drugs