AMPD1, adenosine monophosphate deaminase 1, 270

N. diseases: 106; N. variants: 8
Disease: Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy 		0.310 Biomarker group CTD_human Metabolic myopathies discovered during investigations of statin myopathy. 18380285 2008
CUI: C0026848
Disease: Myopathy
Myopathy 		0.310 Biomarker group CTD_human In this report we present the first case with a detectable defect of the AMPD1 gene in a Japanese patient with myopathy. 11102975 2000
CUI: C0026848
Disease: Myopathy
Myopathy 		0.310 GeneticVariation group BEFREE In this report we present the first case with a detectable defect of the AMPD1 gene in a Japanese patient with myopathy. 11102975 2000