Annotation Detail
Information
- Associated Genes
- TGM1
- Associated Variants
-
TGM1 p.Glu520Gly (p.E520G)
(
ENST00000206765.11,
ENST00000544573.5 )
TGM1 p.Gly94Asp (p.G94D) ( ENST00000544573.5, ENST00000206765.11 )
TGM1 p.Glu520Gly (p.E520G) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Gly94Asp (p.G94D) ( ENST00000206765.11, ENST00000544573.5 ) - Associated Disease
- Congenital ichthyosis
- Source Database
- DisGeNET
- Description
- Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.
- Pubmed
- 19241467
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.324614511825365
- Year of publication
- 2009
Drugs