TGM1, transglutaminase 1, 7051

N. diseases: 117; N. variants: 88
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4305324
Disease: Acral self-healing collodion baby
Acral self-healing collodion baby
0.310 GeneticVariation disease BEFREE We describe a novel clinical phenotype of acral self-healing collodion baby caused by a new TGM1 mutation. 19500103 2009
CUI: C4305324
Disease: Acral self-healing collodion baby
Acral self-healing collodion baby
0.310 GermlineCausalMutation disease ORPHANET We describe a novel clinical phenotype of acral self-healing collodion baby caused by a new TGM1 mutation. 19500103 2009