TGM1, transglutaminase 1, 7051

N. diseases: 117; N. variants: 88
Disease: Bathing suit ichthyosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs753798494
rs753798494
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C4511230
Disease:
Bathing suit ichthyosis 		0.010 GeneticVariation BEFREE The present case demonstrates this phenotype in a White Tunisian patient with a novel mutation of TGM1 (I304F) not previously reported in BSI. 25209454 2014