Disease: 3-methylglutaconic aciduria type 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4039473
Disease: 3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type 5 		0.300 Biomarker disease GENOMICS_ENGLAND The dilated cardiomyopathy with ataxia syndrome is a rare autosomal recessive multisystem disorder caused by mutations in DNAJC19. 27426421 2016
CUI: C4039473
Disease: 3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type 5 		0.300 Biomarker disease GENOMICS_ENGLAND New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. 22797137 2012