Annotation Detail
Information
- Associated Genes
- TGM1
- Associated Variants
-
TGM1 p.Ser42Cys (p.S42C)
(
ENST00000206765.11,
ENST00000544573.5 )
TGM1 p.Ser42Tyr (p.S42Y) ( ENST00000544573.5, ENST00000206765.11 )
TGM1 p.Ser42Cys (p.S42C) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Ser42Tyr (p.S42Y) ( ENST00000206765.11, ENST00000544573.5 ) - Associated Disease
- Congenital ichthyosis
- Source Database
- DisGeNET
- Description
- Mutations of keratinocyte transglutaminase in lamellar ichthyosis.
- Pubmed
- 7824952
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.324614511825365
- Year of publication
- 1995
Drugs