AMPD1, adenosine monophosphate deaminase 1, 270

N. diseases: 106; N. variants: 8
Disease: Metabolic myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270984
Disease: Metabolic myopathy
Metabolic myopathy 		0.010 AlteredExpression group BEFREE Consequently, genetic tests for abnormal AMPD1 expression designed to diagnose patients with metabolic myopathy, and to evaluate genetic markers for clinical outcome in heart disease should not be based solely on the detection of a single mutant allele. 12117480 2002