Name

Methylmalonic acidemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic acidemia from the curated CTD Gene-Disease Associations dataset.

methylmalonic acidemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease methylmalonic acidemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

methylmalonic acidemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease methylmalonic acidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

methylmalonic acidemia Gene Set

From HPO Gene-Disease Associations

genes associated with the methylmalonic acidemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Methylmalonic acidemia with homocystinuria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methylmalonic acidemia with homocystinuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methylmalonic acidemia with homocystinuria cblD Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methylmalonic acidemia with homocystinuria cblD phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methylmalonic acidemia with homocystinuria Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic acidemia with homocystinuria from the curated CTD Gene-Disease Associations dataset.

mental retardation, x-linked 3 (methylmalonic acidemia and homocysteinemia, cblx type ) Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 3 (methylmalonic acidemia and homocysteinemia, cblx type ) phenotype from the curated OMIM Gene-Disease Associations dataset.

ISOVALERIC ACIDEMIA, TYPE I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ISOVALERIC ACIDEMIA, TYPE I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutaric acidemia IIA Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutaric acidemia IIA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutaric acidemia IIC Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutaric acidemia IIC phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutaric acidemia IIB Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutaric acidemia IIB phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Propionic acidemia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Propionic acidemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acidemia, isovaleric Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acidemia, isovaleric from the curated CTD Gene-Disease Associations dataset.

Propionic Acidemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Propionic Acidemia from the curated CTD Gene-Disease Associations dataset.

isovaleric acidemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease isovaleric acidemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

propionic acidemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease propionic acidemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

organic acidemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease organic acidemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

propionic acidemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease propionic acidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

organic acidemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease organic acidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

isovaleric acidemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease isovaleric acidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

acidemia Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term acidemia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

phenylpyruvic acidemia Gene Set

From HPO Gene-Disease Associations

genes associated with the phenylpyruvic acidemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

exercise-induced lactic acidemia Gene Set

From HPO Gene-Disease Associations

genes associated with the exercise-induced lactic acidemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

intermittent lactic acidemia Gene Set

From HPO Gene-Disease Associations

genes associated with the intermittent lactic acidemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

glutaric acidemia Gene Set

From HPO Gene-Disease Associations

genes associated with the glutaric acidemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

acidemia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the acidemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

isovaleric acidemia Gene Set

From OMIM Gene-Disease Associations

genes associated with the isovaleric acidemia phenotype from the curated OMIM Gene-Disease Associations dataset.

glutaric acidemia iia Gene Set

From OMIM Gene-Disease Associations

genes associated with the glutaric acidemia iia phenotype from the curated OMIM Gene-Disease Associations dataset.

glutaric acidemia iic Gene Set

From OMIM Gene-Disease Associations

genes associated with the glutaric acidemia iic phenotype from the curated OMIM Gene-Disease Associations dataset.

glutaric acidemia iib Gene Set

From OMIM Gene-Disease Associations

genes associated with the glutaric acidemia iib phenotype from the curated OMIM Gene-Disease Associations dataset.

METHYLMALONIC ACIDURIA, mut(-) TYPE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the METHYLMALONIC ACIDURIA, mut(-) TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methylmalonic aciduria cblA type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methylmalonic aciduria cblA type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

METHYLMALONIC ACIDURIA, mut(0) TYPE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the METHYLMALONIC ACIDURIA, mut(0) TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methylmalonic aciduria, cblD type, variant 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methylmalonic aciduria, cblD type, variant 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined malonic and methylmalonic aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined malonic and methylmalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methylmalonic aciduria cblB type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methylmalonic aciduria cblB type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methylmalonic Aciduria and Homocystinuria, CblD Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblD Type from the curated CTD Gene-Disease Associations dataset.

Methylmalonic aciduria cblA type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic aciduria cblA type from the curated CTD Gene-Disease Associations dataset.

Methylmalonic Aciduria and Homocystinuria, CblF Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblF Type from the curated CTD Gene-Disease Associations dataset.

Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset.

METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT from the curated CTD Gene-Disease Associations dataset.

Methylmalonic aciduria cblB type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic aciduria cblB type from the curated CTD Gene-Disease Associations dataset.

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) from the curated CTD Gene-Disease Associations dataset.

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) from the curated CTD Gene-Disease Associations dataset.

methylmalonic aciduria and homocystinuria type cblc Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease methylmalonic aciduria and homocystinuria type cblc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

homocysteine; vitamin b12; holotranscobalamin; methylmalonic acid Gene Set

From GAD Gene-Disease Associations

genes associated with the disease homocysteine; vitamin b12; holotranscobalamin; methylmalonic acid in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

methylmalonic Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term methylmalonic in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

(S)-Methylmalonic acid semialdehyde Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the (S)-Methylmalonic acid semialdehyde metabolite from the curated HMDB Metabolites of Enzymes dataset.

Methylmalonic acid Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Methylmalonic acid metabolite from the curated HMDB Metabolites of Enzymes dataset.

methylmalonic aciduria Gene Set

From HPO Gene-Disease Associations

genes associated with the methylmalonic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Methylmalonic aciduria and homocystinuria type D protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Methylmalonic aciduria and homocystinuria type D protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria, mut(0) type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria, mut(0) type phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria, vitamin b12-responsive Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria, vitamin b12-responsive phenotype from the curated OMIM Gene-Disease Associations dataset.

combined malonic and methylmalonic aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined malonic and methylmalonic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria and homocystinuria, cbld type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria and homocystinuria, cbld type phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria and homocystinuria, cblf type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria and homocystinuria, cblf type phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria and homocystinuria, cblc type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria and homocystinuria, cblc type phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria, cbld type, variant 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria, cbld type, variant 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria and homocystinuria, cblj type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria and homocystinuria, cblj type phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria due to transcobalamin receptor defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria due to transcobalamin receptor defect phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Gene Set

From Reactome Pathways

proteins participating in the Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway from the Reactome Pathways dataset.

Defective MMAB causes methylmalonic aciduria type cblB Gene Set

From Reactome Pathways

proteins participating in the Defective MMAB causes methylmalonic aciduria type cblB pathway from the Reactome Pathways dataset.

Defective MMAA causes methylmalonic aciduria type cblA Gene Set

From Reactome Pathways

proteins participating in the Defective MMAA causes methylmalonic aciduria type cblA pathway from the Reactome Pathways dataset.

Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Gene Set

From Reactome Pathways

proteins participating in the Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway from the Reactome Pathways dataset.

Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Gene Set

From Reactome Pathways

proteins participating in the Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway from the Reactome Pathways dataset.

Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Gene Set

From Reactome Pathways

proteins participating in the Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway from the Reactome Pathways dataset.

Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Gene Set

From Reactome Pathways

proteins participating in the Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway from the Reactome Pathways dataset.

Defective MUT causes methylmalonic aciduria mut type Gene Set

From Reactome Pathways

proteins participating in the Defective MUT causes methylmalonic aciduria mut type pathway from the Reactome Pathways dataset.

Defective CD320 causes methylmalonic aciduria Gene Set

From Reactome Pathways

proteins participating in the Defective CD320 causes methylmalonic aciduria pathway from the Reactome Pathways dataset.