MMUT, methylmalonyl-CoA mutase, 4594

N. diseases: 147; N. variants: 177
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 Biomarker disease CTD_human
CUI: C1855115
Disease: Methylmalonic Aciduria, mut(0) Type
Methylmalonic Aciduria, mut(0) Type 		0.800 CausalMutation disease CLINVAR
CUI: C1855115
Disease: Methylmalonic Aciduria, mut(0) Type
Methylmalonic Aciduria, mut(0) Type 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1855115
Disease: Methylmalonic Aciduria, mut(0) Type
Methylmalonic Aciduria, mut(0) Type 		0.800 Biomarker disease CTD_human
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.700 Biomarker disease HPO
CUI: C1855116
Disease: Methylmalonic Aciduria, mut(-) Type
Methylmalonic Aciduria, mut(-) Type 		0.600 Biomarker disease CTD_human
CUI: C1855116
Disease: Methylmalonic Aciduria, mut(-) Type
Methylmalonic Aciduria, mut(-) Type 		0.600 CausalMutation disease CLINVAR
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.500 Biomarker phenotype HPO
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.110 Biomarker phenotype HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.110 Biomarker group HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0003123
Disease: Anorexia
Anorexia 		0.100 Biomarker disease HPO
CUI: C0009421
Disease: Comatose
Comatose 		0.100 Biomarker phenotype HPO
CUI: C0011175
Disease: Dehydration
Dehydration 		0.100 Biomarker phenotype HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 CausalMutation group CLINVAR
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.100 Biomarker group HPO
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker phenotype HPO
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO