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GENE - TERM ANNOTATION REPORT

RGD ID: 1601765
Species: Homo sapiens
RGD Object: Gene
Symbol: MMACHC
Name: metabolism of cobalamin associated C
Acc ID: DOID:0050715
Term: methylmalonic aciduria and homocystinuria type cblC
Definition: A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. (DO)
Definition Source(s): http://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
MMACHC IAGP 7240710OMIM  
MMACHC EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:19700356
MMACHC IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:25741868 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:19370762 PMID:25741868 PMID:28337550 PMID:28492532 PMID:28693988 PMID:32439973
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:25741868 PMID:28492532 PMID:33515116
MMACHC IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:18164228 PMID:19760748 PMID:25741868 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:20631720 PMID:25741868 PMID:27751223 PMID:28492532 PMID:30157807
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC typePMID:16311595 PMID:19370762 PMID:21114891 PMID:23954310 PMID:25741868 PMID:25772322 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 PMID:19370762 PMID:19700356 PMID:25398587 PMID:25672861 PMID:25689098 PMID:25741868 PMID:26825575 PMID:26990548 PMID:28492532 PMID:34356170
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:16714133 PMID:19370762 PMID:19700356 PMID:25672861 PMID:25741868 PMID:26825575 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC typePMID:23932106 PMID:25741868 PMID:28492532 PMID:30293248 PMID:31555752 PMID:34445196
MMACHC IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:19767224 PMID:25741868 PMID:28492532 PMID:30157807
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC typePMID:16311595 PMID:19370762 PMID:20610126 PMID:20631720 PMID:23825108 PMID:24599607 PMID:25741868 PMID:26149271 PMID:28492532 PMID:30157807
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:19370762 PMID:23954310 PMID:24126030 PMID:25741868 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:19370762 PMID:24210589 PMID:25398587 PMID:25741868 PMID:28492532 PMID:30197982 PMID:32071835 PMID:32481360 PMID:33473346
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:19914430 PMID:20631720 PMID:25388550 PMID:25741868 PMID:26467025 PMID:28492532
MMACHC IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:28492532
MMACHC IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:25741868
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferasePMID:25741868 PMID:28492532 PMID:30157807 PMID:35361390 PMID:36184083
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsivePMID:19370762 PMID:28492532
MMACHC IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:19767224 PMID:28492532 PMID:30157807
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:28492532 PMID:32058304
MMACHC IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:19370762 PMID:25741868 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:20631720 PMID:23954310 PMID:25741868 PMID:27383490 PMID:28327205 PMID:28492532 PMID:33473346
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:19370762 PMID:21697092 PMID:24126030 PMID:25741868 PMID:28492532 PMID:33726816 PMID:35156754
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:17768669 PMID:19370762 PMID:19760748 PMID:25741868 PMID:28492532 PMID:28693988
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:19370762 PMID:19760748 PMID:20631720 PMID:21228398 PMID:23837176 PMID:23954310 PMID:24210589 PMID:24599607 PMID:25687216
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:18164228 PMID:18245139 PMID:19760748 PMID:24599607 PMID:25741868 PMID:26658511 PMID:28151490 PMID:28492532 PMID:29294253 PMID:32164588 PMID:33931066 PMID:34389282
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC typePMID:16311595 PMID:16714133 PMID:25741868 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:21114891 PMID:25741868 PMID:26658511 PMID:28151490 PMID:28492532 PMID:29379858
MMACHC IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC 
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:22642810 PMID:24126030 PMID:25741868 PMID:26990548 PMID:28492532 PMID:31589614
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 PMID:32099815 PMID:34215320 PMID:35190856 PMID:9536098
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:18164228 PMID:19370762 PMID:19767224 PMID:22447314 PMID:25741868 PMID:26825575 PMID:28492532 PMID:30157807
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:24126030 PMID:25741868 PMID:29302025 PMID:38387306
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:25668207 PMID:25741868 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:23954310 PMID:25741868 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC typePMID:16311595
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:19370762 PMID:19760748 PMID:20631720 PMID:25741868 PMID:26825575 PMID:28481040 PMID:28492532 PMID:29453417
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC typePMID:16311595 PMID:16714133 PMID:19370762 PMID:19700356 PMID:25672861 PMID:26825575 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:18164228 PMID:25741868 PMID:27252276
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:16714133 PMID:20631720 PMID:20924684 PMID:25741868 PMID:28327205 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:26287336 PMID:28492532 PMID:29340559
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:19767224 PMID:25741868 PMID:26270766 PMID:26825575 PMID:28492532 PMID:30157807
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:19370762 PMID:24599607 PMID:25741868 PMID:28492532 PMID:31503356
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:20631720 PMID:23954310 PMID:25741868 PMID:26658511 PMID:27383490 PMID:28151490 PMID:28327205 PMID:28492532
MMACHC IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:25741868 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:20631720 PMID:25741868 PMID:28492532 PMID:29731766 PMID:31998365
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:19767224 PMID:20631720 PMID:25741868 PMID:28492532 PMID:30157807 PMID:31998365 PMID:33411215
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:19370762 PMID:19767224 PMID:25741868 PMID:26270766 PMID:26825575 PMID:28492532 PMID:30157807
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:25741868 PMID:26990548 PMID:28492532 PMID:31130284
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:23580368 PMID:25398587
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:25741868 PMID:28492532 PMID:30157807 PMID:31092259 PMID:32943488
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC typePMID:16311595 PMID:19760748 PMID:25741868 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:19370762 PMID:20631720 PMID:20924684 PMID:23954310 PMID:25741868 PMID:27383490 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC typePMID:16199547 PMID:16311595 PMID:19370762 PMID:25398587 PMID:25741868 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:19370762 PMID:20631720 PMID:21835369 PMID:23954310 PMID:25741868 PMID:26149271 PMID:27383490 PMID:28327205 PMID:28492532 PMID:31278756
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC typePMID:16199547 PMID:16311595 PMID:19760748 PMID:25741868 PMID:26979128 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:26253414 PMID:28454995 PMID:28492532 PMID:31574870
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC typePMID:16311595 PMID:17768669 PMID:19760748 PMID:25741868 PMID:28492532 PMID:28693988
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:19767224 PMID:25741868 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:19914430 PMID:20631720 PMID:25388550 PMID:25741868 PMID:28492532 PMID:30157807 PMID:31998365
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC typePMID:19370762 PMID:25741868
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:18164228 PMID:18245139 PMID:19760748 PMID:24599607 PMID:25741868 PMID:27252276 PMID:28492532 PMID:29294253
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:19760748 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:23591356 PMID:26253414 PMID:28492532 PMID:31574870
MMACHC IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:14568819 PMID:16311595 PMID:18245139 PMID:20631720 PMID:20924684 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:28454995 PMID:28492532
MMACHC IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16199547 PMID:16311595 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:26464686 PMID:28492532 PMID:30157807
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:19370762 PMID:19767224 PMID:25741868 PMID:28492532 PMID:30157807 PMID:30209273
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:20631720 PMID:25741868 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:28492532 PMID:30157807 PMID:31092259
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:16714133 PMID:19370762 PMID:19700356 PMID:25672861 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:28492532 PMID:31278756
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:23954310 PMID:25772322 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:19370762 PMID:19700356 PMID:25689098 PMID:26825575 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16199547 PMID:16311595 PMID:19760748 PMID:26979128 PMID:28492532
MMACHC IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:19370762 PMID:23837176 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:23837176 PMID:26149271 PMID:28492532 PMID:30863077
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:17853453 PMID:19370762 PMID:19700356 PMID:20219402 PMID:21055272 PMID:22560872 PMID:25687216 PMID:25809485 PMID:26283149 PMID:28218226 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:18164228 PMID:18245139 PMID:19760748 PMID:24599607 PMID:28492532 PMID:29294253
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16199547 PMID:16311595 PMID:26979128 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:17576681 PMID:28492532 PMID:9536098
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:25741868 PMID:28492532 PMID:33691766
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:18164228 PMID:19370762 PMID:24210589 PMID:25741868 PMID:28492532 PMID:28835862 PMID:31470807
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:17853453 PMID:19370762 PMID:19700356 PMID:20219402 PMID:21055272 PMID:22560872 PMID:25687216 PMID:25741868 PMID:25809485 PMID:26283149 PMID:28218226 PMID:28492532 PMID:32457044
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:19573432 PMID:19767224 PMID:25741868 PMID:28492532 PMID:29581464 PMID:29731766 PMID:30157807
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:20631720 PMID:22642810 PMID:23241609 PMID:23754956 PMID:25741868 PMID:28492532 PMID:30157807 PMID:33726816 PMID:34215320 PMID:34389282 PMID:35193651
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:25741868 PMID:28492532 PMID:28693988
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:17576681 PMID:19370762 PMID:23954310 PMID:28492532 PMID:9536098
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16199547 PMID:16311595 PMID:25741868 PMID:26979128 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:18164228 PMID:18245139 PMID:25741868 PMID:28492532 PMID:29294253 PMID:31279840
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferasePMID:16311595 PMID:20631720 PMID:23954310 PMID:25388550 PMID:25772322 PMID:26270766 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferasePMID:19370762 PMID:25741868 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:24853097 PMID:25741868 PMID:29068997
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16199547 PMID:16311595 PMID:25741868 PMID:26563984 PMID:26979128 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:19370762 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16199547 PMID:16311595 PMID:19370762 PMID:28492532 PMID:30209273
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:19767224 PMID:25388550 PMID:25741868 PMID:28492532 PMID:30157807
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:16311595 PMID:17768669 PMID:19760748 PMID:28492532 PMID:28693988
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsivePMID:16311595 PMID:20631720 PMID:23954310 PMID:25388550 PMID:25772322 PMID:27383490 PMID:28327205 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 PMID:18245139 PMID:19370762 PMID:19760748 PMID:20549364 PMID:20610126 PMID:20631720 PMID:23757202 PMID:23837176 PMID:24033266 PMID:24126030 PMID:24599607 PMID:25687216 PMID:25741868 PMID:25894566 PMID:26467025 PMID:28492532 PMID:28835862 PMID:29294253 PMID:29302025 PMID:31137025 PMID:31279840 PMID:32164588 PMID:33562640 PMID:36338977
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:14568819 PMID:16311595 PMID:18245139 PMID:19370762 PMID:20631720 PMID:20924684 PMID:22642810 PMID:25741868 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:16714133 PMID:17431913 PMID:19370762 PMID:19760748 PMID:20631720 PMID:24577983 PMID:25511120 PMID:25741868 PMID:26149271 PMID:26563984 PMID:28492532 PMID:33515116
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC typePMID:16311595 PMID:16714133 PMID:18164228 PMID:19370762 PMID:24033266 PMID:24126030 PMID:25741868 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:11320193 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18164228 PMID:19370762 PMID:19700356 PMID:20219402 PMID:20631720 PMID:21055272 PMID:22560872 PMID:23825108 PMID:25687216 PMID:25741868 PMID:25809485 PMID:26283149 PMID:28218226 PMID:28492532 PMID:28693988
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:19370762 PMID:20631720 PMID:23954310 PMID:25741868 PMID:25772322 PMID:26283149 PMID:27383490 PMID:28327205 PMID:28492532 PMID:32943488
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:18164228 PMID:19370762 PMID:20631720 PMID:23954310 PMID:25741868 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:19370762 PMID:19836982 PMID:20631720 PMID:23954310 PMID:25741868 PMID:25772322 PMID:28492532
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC typePMID:16311595 PMID:19370762 PMID:20631720 PMID:21055272 PMID:23954310 PMID:25741868 PMID:26149271 PMID:26563984 PMID:28218226 PMID:28492532 PMID:30157807 PMID:32943488 PMID:33982424 PMID:34102818 PMID:35361390
MMACHC IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:17576681 PMID:20652818 PMID:23837176 PMID:25741868 PMID:25894566 PMID:28492532 PMID:9536098
MMACHC IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC typePMID:23837176
MMACHC ISSMmachc (Mus musculus)13592920MouseDOOMIM:277400 
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