TGM1, transglutaminase 1, 7051

N. diseases: 117; N. variants: 88
Disease: Ectropion ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013592
Disease: Ectropion
Ectropion 		0.120 GeneticVariation disease BEFREE All six patients with TGM1 mutations were born with collodion membrane and had ectropion and eclabium, while none of the patients with ABCA12 mutations had these features. 27061915 2016
CUI: C0013592
Disease: Ectropion
Ectropion 		0.120 GeneticVariation disease BEFREE The genotype-phenotype investigation found that ARCI with TGM1 mutations was significantly associated with presence of collodion membrane at birth (p = 0.006), ectropion (p = 0.001), plate-like scales (p = 0.005) and alopecia (p = 0.001). 18948357 2009
CUI: C0013592
Disease: Ectropion
Ectropion 		0.120 Biomarker disease HPO