Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.500 Biomarker phenotype HPO
Entrez Id: 197322
Gene Symbol: ACSF3
ACSF3 		0.400 Biomarker phenotype HPO
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		0.170 Biomarker phenotype HPO
Entrez Id: 84693
Gene Symbol: MCEE
MCEE 		0.160 Biomarker phenotype HPO
Entrez Id: 326625
Gene Symbol: MMAB
MMAB 		0.150 Biomarker phenotype HPO
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		0.150 Biomarker phenotype HPO
Entrez Id: 166785
Gene Symbol: MMAA
MMAA 		0.140 Biomarker phenotype HPO
Entrez Id: 27249
Gene Symbol: MMADHC
MMADHC 		0.120 Biomarker phenotype HPO
Entrez Id: 80152
Gene Symbol: CENPT
CENPT 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 57215
Gene Symbol: THAP11
THAP11 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3054
Gene Symbol: HCFC1
HCFC1 		0.100 Biomarker phenotype HPO
Entrez Id: 55788
Gene Symbol: LMBRD1
LMBRD1 		0.100 Biomarker phenotype HPO
Entrez Id: 5052
Gene Symbol: PRDX1
PRDX1 		0.100 Biomarker phenotype HPO
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		0.100 Biomarker phenotype HPO
Entrez Id: 8838
Gene Symbol: CCN6
CCN6 		0.100 Biomarker phenotype HPO
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.500 AlteredExpression phenotype BEFREE Methylmalonyl-CoA mutase activity of leukocytes in variants and heterozygotes of methylmalonic acidemia. 21471 1977
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.500 GeneticVariation phenotype BEFREE Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia. 1970180 1990
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.500 AlteredExpression phenotype BEFREE Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia. 1968706 1990
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.500 Biomarker phenotype BEFREE Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase. 1975493 1990
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.500 CausalMutation phenotype CLINVAR Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation. 1670635 1991
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.500 Biomarker phenotype BEFREE We describe a novel method for differential diagnosis of mut and cbl methylmalonic aciduria using DNA-mediated gene transfer of a methylmalonyl CoA mutase cDNA clone. 1671869 1991
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.500 GeneticVariation phenotype BEFREE We have previously identified a mutation in the gene for methylmalonyl CoA mutase in a patient with the mut- phenotype of methylmalonic aciduria. 1351030 1992
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.500 GeneticVariation phenotype BEFREE Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia. 7912889 1994
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.500 GeneticVariation phenotype BEFREE Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia. 7951229 1994
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.500 GeneticVariation phenotype BEFREE Many of the mutations that cause methylmalonic aciduria in humans affect residues in the C-terminal region of the methylmalonyl-CoA mutase. 8643613 1996