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: C0020620
Disease: Hypohidrosis
Hypohidrosis
0.110 Biomarker disease BEFREE Patients who had at least one mutation predicted to truncate TGase-1 were more likely to have more severe hypohidrosis (p = 0.001) and overheating (p = 0.0007) at onset of symptoms than were those with exclusively TGM1 missense mutations. 18948357 2009
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis
0.110 Biomarker disease HPO