Name

4-hydroxyphenylacetic aciduria Gene Set

From HPO Gene-Disease Associations

genes associated with the 4-hydroxyphenylacetic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO 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.

Combined d-2- and l-2-hydroxyglutaric aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 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.

Orotic aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Orotic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

L-2-hydroxyglutaric aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the L-2-hydroxyglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-Methylglutaconic aciduria type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-Methylglutaconic aciduria type 2 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.

3-Methylglutaconic aciduria type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-Methylglutaconic aciduria type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-methylglutaconic aciduria type V Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-methylglutaconic aciduria type V phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

D-2-hydroxyglutaric aciduria 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the D-2-hydroxyglutaric aciduria 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-Methylglutaconic aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-Methylglutaconic aciduria 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.

2-methyl-3-hydroxybutyric aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 2-methyl-3-hydroxybutyric 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.

Glutaric aciduria, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutaric aciduria, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

D-2-hydroxyglutaric aciduria 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the D-2-hydroxyglutaric aciduria 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aminoadipic aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aminoadipic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mevalonic aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mevalonic aciduria 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.

Glutaric aciduria 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutaric aciduria 1 from the curated CTD Gene-Disease Associations dataset.

3-Methylglutaconic Aciduria, Type V Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Methylglutaconic Aciduria, Type V 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.

Malonic aciduria Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Malonic 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.

Fumaric aciduria Gene Set

From CTD Gene-Disease Associations

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

3-Methylglutaconic Aciduria, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Methylglutaconic Aciduria, Type I from the curated CTD Gene-Disease Associations dataset.

Argininosuccinic Aciduria Gene Set

From CTD Gene-Disease Associations

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

mevalonic aciduria Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

2-hydroxyglutaric aciduria Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease 2-hydroxyglutaric aciduria from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

argininosuccinic aciduria Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

mevalonic aciduria Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

l-2-hydroxyglutaric aciduria Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease l-2-hydroxyglutaric aciduria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

argininosuccinic aciduria Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

2-hydroxyglutaric aciduria Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease 2-hydroxyglutaric aciduria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

d-2-hydroxyglutaric aciduria Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease d-2-hydroxyglutaric aciduria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

aciduria Gene Set

From GeneRIF Biological Term Annotations

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

acidurias Gene Set

From GeneRIF Biological Term Annotations

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

organic aciduria Gene Set

From HPO Gene-Disease Associations

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

dicarboxylic aciduria Gene Set

From HPO Gene-Disease Associations

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

d-2-hydroxyglutaric aciduria Gene Set

From HPO Gene-Disease Associations

genes associated with the d-2-hydroxyglutaric aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

medium chain dicarboxylic aciduria Gene Set

From HPO Gene-Disease Associations

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

4-hydroxyphenylpyruvic aciduria Gene Set

From HPO Gene-Disease Associations

genes associated with the 4-hydroxyphenylpyruvic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

urocanic aciduria Gene Set

From HPO Gene-Disease Associations

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

ethylmalonic aciduria Gene Set

From HPO Gene-Disease Associations

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

3-methylglutaconic aciduria Gene Set

From HPO Gene-Disease Associations

genes associated with the 3-methylglutaconic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

3-methylglutaric aciduria Gene Set

From HPO Gene-Disease Associations

genes associated with the 3-methylglutaric aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

long-chain dicarboxylic aciduria Gene Set

From HPO Gene-Disease Associations

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

aciduria Gene Set

From HPO Gene-Disease Associations

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

glutaric aciduria Gene Set

From HPO Gene-Disease Associations

genes associated with the glutaric 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.

aciduria Gene Set

From MPO Gene-Phenotype Associations

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

l-2-hydroxyglutaric aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the l-2-hydroxyglutaric aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

[glutaric aciduria iii] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [glutaric aciduria iii] phenotype from the curated OMIM Gene-Disease Associations 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.

2-aminoadipic 2-oxoadipic aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the 2-aminoadipic 2-oxoadipic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

argininosuccinic aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the argininosuccinic 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.

combined d-2- and l-2-hydroxyglutaric aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

3-methylglutaconic aciduria, type i Gene Set

From OMIM Gene-Disease Associations

genes associated with the 3-methylglutaconic aciduria, type i phenotype from the curated OMIM Gene-Disease Associations dataset.

mevalonic aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the mevalonic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 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.

d-2-hydroxyglutaric aciduria 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the d-2-hydroxyglutaric aciduria 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.

d-glyceric aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the d-glyceric aciduria 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.

alpha-methylacetoacetic aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the alpha-methylacetoacetic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

3-methylglutaconic aciduria, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the 3-methylglutaconic aciduria, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

orotic aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the orotic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

3-methylglutaconic aciduria, type v Gene Set

From OMIM Gene-Disease Associations

genes associated with the 3-methylglutaconic aciduria, type v phenotype from the curated OMIM Gene-Disease Associations dataset.

d-2-hydroxyglutaric aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the d-2-hydroxyglutaric 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.