Methylmalonic acidemia

Disease Term Disease ID Gene Symbol Classification References Source
METHYLMALONIC ACIDEMIA
C0268583MESH:C537358MONDO:0002012
ACSF3 Causal
21841779
CTD Disgenet
MCEE Causal — Disgenet
MMAA Causal — Disgenet
MMAB Causal
12471062 12514191 15950874 16410054 18251506 24813872
CTD Disgenet
MMUT Causal
16823967
CTD Disgenet
CAVIN1 Unknown
16823967
CTD Disgenet
CRABP2 Unknown
16823967
CTD Disgenet
CYCS Unknown
16823967
CTD Disgenet
GPD2 Unknown
16823967
CTD Disgenet
MVK Unknown — Disgenet
SEPTIN11 Unknown
16823967
CTD Disgenet
SEPTIN2 Unknown
16823967
CTD Disgenet
SOD2 Unknown
16823967
CTD Disgenet
SUCLG2 Unknown
16823967
CTD Disgenet
METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY
308425MONDO:0009615
MCEE Causal
16752391
ClinGen ClinVar GWAS catalog Orphanet
METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COENZYME A EPIMERASE DEFICIENCY
C4707328
MCEE Unknown — Disgenet
METHYLMALONIC ACIDEMIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
MONDO:0013341
CD320 Unknown
18779389 20524213 21377459 22819238 23430977 27411955 29663633 30041674 30124850 31462756 32898552 35107211
ClinGen ClinVar GWAS catalog
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA
C5848324MESH:C537359
MMACHC Unknown
19700356
CTD Disgenet
PRDX1 Unknown — CTD
THAP11 Unknown — Disgenet
ZNF143 Unknown — Disgenet
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF
79284
LMBRD1 Unknown
20301503
Orphanet
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD
79283
MMADHC Unknown
20301409 20301503
Orphanet
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ
369955MONDO:0013925
ABCD4 Causal
22922874
ClinGen ClinVar GWAS catalog Orphanet
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX
369962MONDO:0010657
HCFC1 Causal
24011988
ClinVar GenCC Orphanet
METHYLMALONIC ACIDURIA
C1855119
MMAB Causal — Disgenet
MMACHC Causal — Disgenet
MMUT Causal — Disgenet
ACSF3 Unknown — Disgenet
CAVIN1 Unknown — Disgenet
CRABP2 Unknown — Disgenet
CYCS Unknown — Disgenet
GPD2 Unknown — Disgenet
SEPTIN11 Unknown — Disgenet
SEPTIN2 Unknown — Disgenet
SOD2 Unknown — Disgenet
SUCLG2 Unknown — Disgenet
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA
MONDO:0016826
THAP11 Unknown
28449119 31905202 35013307
ClinGen GWAS catalog
ZNF143 Unknown
22268977 23715323 27349184 33845046 9705341
ClinGen Disgenet
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD
MONDO:0010185
MMADHC Causal — ClinVar GenCC
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF
MONDO:0010183
LMBRD1 Causal
19136951
ClinGen ClinVar GWAS catalog
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CB1L TYPE
MONDO:0975798
THAP11 Causal — ClinVar
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE
C1848552277410MESH:C564743
MMACHC Unknown — Disgenet
MMADHC Unknown — CTD Disgenet HPO
TSEN54 Unknown — Disgenet
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE
277380C1848578MESH:C564747
LMBRD1 Unknown
22922874
CTD Disgenet HPO
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE
614857C3553915OMIM:614857
ABCD4 Unknown — CTD Disgenet HPO
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLL TYPE
620940
THAP11 Unknown — HPO
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLX TYPE
C0796208309541
CENPT Unknown — Disgenet
HCFC1 Unknown — Disgenet HPO