HTRA2, HtrA serine peptidase 2, 27429

N. diseases: 151; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism
0.010 Biomarker group BEFREE HTRA2 defect should be grouped under the IEM with 3-MGA-uria as discriminating feature. 30114719 2018