Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 Biomarker disease CTD_human
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		0.100 CausalMutation disease CLINVAR
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 GeneticVariation disease UNIPROT A common mutation among blacks with mut- methylmalonic aciduria. 9452100 1998
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 CausalMutation disease CLINVAR A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias. 26270765 2016
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 GeneticVariation disease CLINVAR A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias. 26270765 2016
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 GeneticVariation disease CLINVAR A G-protein editor gates coenzyme B12 loading and is corrupted in methylmalonic aciduria. 19955418 2009
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 Biomarker disease MGD A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality. 14555645 2003
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 CausalMutation disease CLINVAR A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening. 27578510 2016
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 GeneticVariation disease CLINVAR Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes. 17470278 2007
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 CausalMutation disease CLINVAR Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes. 17470278 2007
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 GeneticVariation disease CLINVAR Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L). 24330302 2013
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 CausalMutation disease CLINVAR Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia. 22695176 2012
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 CausalMutation disease CLINVAR Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria. 27489777 2016
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 CausalMutation disease CLINVAR Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. 26454439 2015
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 Biomarker disease CLINGEN Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. 26454439 2015
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 GeneticVariation disease CLINVAR Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. 26454439 2015
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 GeneticVariation disease CLINVAR Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria. 1346616 1992
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 GeneticVariation disease UNIPROT Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria. 1346616 1992
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 CausalMutation disease CLINVAR Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria. 1346616 1992
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 GeneticVariation disease UNIPROT Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria. 7909321 1994
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 GeneticVariation disease UNIPROT Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia. 7912889 1994
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 CausalMutation disease CLINVAR Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia. 7912889 1994