ACE, angiotensin I converting enzyme, 1636

N. diseases: 101; N. variants: 18
Disease: Glycogen Storage Disease Type V ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		0.340 Biomarker disease CTD_human In a large cohort of patients with myophosphorylase deficiency, we tested the hypothesis that polymorphic variants in either myoadenylate deaminase (MADA) or angiotensin-converting enzyme (ACE) could act as modulators of phenotype expression.Forty-seven patients were evaluated. 12666117 2003