Methylmalonic acidemia with homocystinuria

Disease Term Disease ID Gene Symbol Classification References Source
Methylmalonic acidemia with homocystinuria, type cblJ 369955 ABCD4 Causal Pathogenic evidence from ClinVar - ClinVar
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE C3553915 ABCD4 Causal Pathogenic evidence from ClinVar 22922874, 23141461, 25234635 ClinVar
ABHD12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Methylmalonic acidemia with homocystinuria, type cblX 369962 HCFC1 Causal Pathogenic evidence from ClinVar - ClinVar
Methylmalonic acidemia with homocystinuria type cblF 79284 LMBRD1 Causal Pathogenic evidence from ClinVar - ClinVar
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder) C1848578 LMBRD1 Causal Pathogenic evidence from ClinVar 19136951, 21303734, 24664876, 26997947, 27604308 ClinVar
Methylmalonic acidemia with homocystinuria C1848561 MMACHC Causal Pathogenic evidence from ClinVar 11261516, 16311595, 16714133, 16963011, 17768669, 17853453, 17874135, 18164228, 18245139, 18779575, 18848477, 19370762, 19700356, 19760748, 19767224, 19914430, 20219402, 20610126, 20631720, 20924684, 21228398, 21497120, 21835369, 22447314, 22560872, 22642810, 23580368, 23825108, 23837176, 23954310, 24126030, 24210589, 24599607, 24889031, 25388550, 25398587, 25687216, 25689098, 25772322, 25809485, 25894566, 26149271, 26270766, 26283149, 26412180, 26658511, 26825575, 27252276, 27324188, 27383490, 27604308, 27751223, 28218226, 28327205, 28693988, 29042959, 29294253, 30157807, 30204970 ClinVar
PRDX1 Causal Pathogenic evidence from ClinVar - ClinVar
Methylmalonic acidemia with homocystinuria, type cblC 79282 MMACHC Causal Pathogenic evidence from ClinVar - ClinVar
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC C4693974 MMACHC Causal Pathogenic evidence from ClinVar 16311595, 16963011, 18164228, 18779575, 19700356, 21497120, 23580368, 24889031, 26149271, 28693988, 30157807 ClinVar
PRDX1 Causal Pathogenic evidence from ClinVar - ClinVar
Methylmalonic acidemia with homocystinuria, type cblD 79283 MMADHC Causal Pathogenic evidence from ClinVar - ClinVar
Methylmalonic Aciduria and Homocystinuria, CblD Type C1848552 MMADHC Causal Pathogenic evidence from ClinVar 18385497, 22156578, 24722857, 26483544, 27604308 ClinVar