Annotation Detail
Information
- Associated Genes
- TGM1
- Associated Variants
-
TGM1 p.Val518Met (p.V518M)
(
ENST00000206765.11,
ENST00000544573.5 )
TGM1 p.Val518Met (p.V518M) ( ENST00000206765.11, ENST00000544573.5 ) - Associated Disease
- Ichthyosiform Erythroderma, Congenital
- Source Database
- DisGeNET
- Description
- These studies extend our prior work on TGM1-deficient LI to the full spectrum of TGM1-deficient patients, showing that the CIE phenotype, when attributable to a V518M heterozygous mutation in TGM1 in combination with an inactive allele, confers a cross-linking deficiency in a variety of keratinizing epithelia, as previously shown for TGM1-negative LI.
- Pubmed
- 16133457
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00554838957344497
- Year of publication
- 2005
Drugs