Methylmalonic aciduria

Disease Term Disease ID Gene Symbol Classification References Source
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 308425 MCEE Causal Pathogenic evidence from ClinVar - ClinVar
Methylmalonic aciduria cblA type C1855109 MMAA Causal Pathogenic evidence from ClinVar 12438653, 15308131, 15523652, 15781192, 16247646, 17957493, 20876572, 21545677, 23026888, 25525159, 26270765, 27591164, 27604308, 28497574 ClinVar
Methylmalonic aciduria cblB type C1855102 MMAB Causal Pathogenic evidence from ClinVar 12471062, 15044458, 15781192, 16410054, 16439175, 17176040, 17410422, 17948227, 17957493, 18251506, 19625202, 20549364, 20556797, 20696242, 21048060, 21604717, 22614770, 22695176, 23674520, 23707710, 24059531, 24516753, 27604308, 29039164, 29197662 ClinVar
MVK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23707710 -
Methylmalonic Aciduria, CblD Type, Variant 2 C1848554 MMADHC Causal Pathogenic evidence from ClinVar - ClinVar
Methylmalonic Aciduria, mut(-) Type C1855116 MMUT Causal Pathogenic evidence from ClinVar - ClinVar
Methylmalonic Aciduria, mut(0) Type C1855115 MMUT Causal Pathogenic evidence from ClinVar - ClinVar
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT C3150900 CD320 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20524213 -