MMUT, methylmalonyl-CoA mutase, 4594

N. diseases: 147; N. variants: 177
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12175488
rs12175488
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs121918249
rs121918249
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs121918251
rs121918251
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs121918252
rs121918252
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs121918254
rs121918254
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs121918256
rs121918256
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs121918257
rs121918257
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs121918258
rs121918258
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs143023066
rs143023066
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs143023066
rs143023066
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		T 0.800 CausalMutation CLINVAR Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia. 28811685 2017
dbSNP: rs1446389693
rs1446389693
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs1554160246
rs1554160246
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs200908035
rs200908035
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs372486357
rs372486357
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs483352778
rs483352778
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs533755473
rs533755473
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs753288303
rs753288303
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs757000253
rs757000253
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs761477436
rs761477436
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs769348060
rs769348060
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs772552898
rs772552898
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs775593146
rs775593146
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs777758903
rs777758903
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs778702777
rs778702777
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
dbSNP: rs864309733
rs864309733
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
CUI: C1855114
Disease:
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017