Disease Term Disease ID Gene Symbol Classification References Source
3-@METHYLGLUTACONIC ACIDURIA, TYPE I C0342727 AUH Causal Pathogenic evidence from ClinVar 6181239, 12434311, 12655555, 15033206, 16354225, 16640564, 17130438, 20855850, 21840233, 27604308, 28438368 ClinVar
3-@METHYLGLUTACONIC ACIDURIA, TYPE V C1857776 DNAJC19 Causal Pathogenic evidence from ClinVar 16055927, 22797137, 27426421, 27928778 ClinVar
3-methylglutaconic aciduria type 5 C4039473 DNAJC19 Causal Pathogenic evidence from ClinVar 22797137, 27426421 ClinVar
3-METHYLGLUTACONIC ACIDURIA, TYPE IX C4540171 TIMM50 Causal Pathogenic evidence from ClinVar 27573165, 31058414 ClinVar