Name

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 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.

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 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 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 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 and homocystinuria type cblc Gene Set

From DISEASES Text-mining Gene-Disease Association 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.

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.

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 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.

Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Gene Set

From Reactome Pathways 2014

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

Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Gene Set

From Reactome Pathways 2014

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 2014

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 2014

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 2014

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

Methylmalonic aciduria and homocystinuria type cblD Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Methylmalonic aciduria and homocystinuria type cblD in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Methylmalonic aciduria and homocystinuria type cblC Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

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 2025 dataset.

Methylmalonic aciduria and homocystinuria type cblF Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Methylmalonic aciduria and homocystinuria type cblF in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Methylmalonic aciduria and homocystinuria Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic aciduria and homocystinuria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

CblC combined methylmalonic aciduria and homocystinuria Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the CblC combined methylmalonic aciduria and homocystinuria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

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 Association 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 Association 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.

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.

Methylmalonic Acidemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Methylmalonic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Methylmalonic Acidemia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Methylmalonic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Methylmalonic acidemia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Methylmalonic acidemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Combined malonic and methylmalonic acidemia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Combined malonic and methylmalonic acidemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Methylmalonic acidemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Methylmalonic acidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined malonic and methylmalonic acidemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined malonic and methylmalonic acidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Methylmalonic acidemia cblA type Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Methylmalonic acidemia cblA type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Methylmalonic acidemia cblB type Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Methylmalonic acidemia cblB type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Methylmalonic acidemia and homocysteinemia cblX type Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Methylmalonic acidemia and homocysteinemia cblX type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Methylmalonic acidemia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic acidemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined malonic and methylmalonic acidemia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined malonic and methylmalonic acidemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic acidemia due to transcobalamin receptor defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic acidemia due to transcobalamin receptor defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Homocystinuria, pyridoxine-responsive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria, pyridoxine-responsive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria, cblD type, variant 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria, cblD type, variant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria, pyridoxine-nonresponsive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria, pyridoxine-nonresponsive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type from the curated CTD Gene-Disease Associations dataset.

Homocystinuria Gene Set

From CTD Gene-Disease Associations

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

homocystinuria Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

homocystinuria Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

homocystinuria Gene Set

From GAD Gene-Disease Associations

genes associated with the disease homocystinuria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; homocystinuria; hyperhomocysteinemia; muscle spasticity; sepsis; septic shock; shock, septic; systemic infection; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; homocystinuria; hyperhomocysteinemia; muscle spasticity; sepsis; septic shock; shock, septic; systemic infection; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folate; homocystinuria Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folate; homocystinuria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

homocystinuria; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease homocystinuria; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mild homocystinuria Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mild homocystinuria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

homocystinuria Gene Set

From GeneRIF Biological Term Annotations

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

homocystinuria Gene Set

From HPO Gene-Disease Associations

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

Homocystinuria Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Homocystinuria phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

homocystinuria, cbld type, variant 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the homocystinuria, cbld type, variant 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

homocystinuria due to mthfr deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the homocystinuria due to mthfr deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

homocystinuria, b6-responsive and nonresponsive types Gene Set

From OMIM Gene-Disease Associations

genes associated with the homocystinuria, b6-responsive and nonresponsive types phenotype from the curated OMIM Gene-Disease Associations dataset.

homocystinuria-megaloblastic anemia, cbl e type Gene Set

From OMIM Gene-Disease Associations

genes associated with the homocystinuria-megaloblastic anemia, cbl e type phenotype from the curated OMIM Gene-Disease Associations dataset.

homocystinuria-megaloblastic anemia, cblg complementation type Gene Set

From OMIM Gene-Disease Associations

genes associated with the homocystinuria-megaloblastic anemia, cblg complementation type phenotype from the curated OMIM Gene-Disease Associations dataset.

Homocystinuria Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Homocystinuria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Homocystinuria Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Homocystinuria from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Homocystinuria Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Homocystinuria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

homocystinuria-megaloblastic anemia cblG type Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease homocystinuria-megaloblastic anemia cblG type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

homocystinuria-megaloblastic anemia cblE type Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease homocystinuria-megaloblastic anemia cblE type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Homocystinuria Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Homocystinuria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Classic homocystinuria Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Classic homocystinuria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Homocystinuria-megaloblastic anemia cblD Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Homocystinuria-megaloblastic anemia cblD phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Homocystinuria due to methylene tetrahydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Homocystinuria due to methylene tetrahydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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 Association 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 Association 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 Association 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 Association 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 Association 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 Association 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.

Propionic Acidemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Propionic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Exercise-Induced Lactic Acidemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Exercise-Induced Lactic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Intermittent Lactic Acidemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Intermittent Lactic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hyperpipecolic Acidemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hyperpipecolic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Glutaric Acidemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Glutaric Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isovaleric Acidemia, Type I Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isovaleric Acidemia, Type I in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

L-2-Hydroxyglutaric Acidemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease L-2-Hydroxyglutaric Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Lactic Acidemia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Lactic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Dicarboxylic Acidemia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Dicarboxylic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Glutaric Acidemia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Glutaric Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Phenylpyruvic Acidemia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Phenylpyruvic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

acidemia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the acidemia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Isovaleric acidemia Gene Set

From Reactome Pathways 2024

proteins participating in the Isovaleric acidemia pathway from the Reactome Pathways 2024 dataset.

Organic acidemia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Organic acidemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Isovaleric acidemia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Isovaleric acidemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Propionic acidemia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Propionic acidemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Glutaric acidemia I Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Glutaric acidemia I from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Organic acidemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Organic acidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Propionic acidemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Propionic acidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isovaleric acidemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isovaleric acidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Glutaric acidemia I Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Glutaric acidemia I in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Glutaric acidemia type 3 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Glutaric acidemia type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Glutaric acidemia IIa Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glutaric acidemia IIa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isovaleric acidemia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isovaleric acidemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Propionic acidemia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Propionic acidemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glutaric acidemia IIc Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glutaric acidemia IIc phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glutaric acidemia IIb Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glutaric acidemia IIb phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glutaric acidemia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glutaric acidemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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, 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 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 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.

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.

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, 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 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 MMAB causes methylmalonic aciduria type cblB Gene Set

From Reactome Pathways 2014

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 2014

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

Defective MUT causes methylmalonic aciduria mut type Gene Set

From Reactome Pathways 2014

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 2014

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

Methylmalonic Aciduria Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Methylmalonic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Combined Malonic And Methylmalonic Aciduria Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Combined Malonic And Methylmalonic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

methylmalonic aciduria Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the methylmalonic aciduria phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased methylmalonic acid level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased methylmalonic acid level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased circulating methylmalonic acid level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased circulating methylmalonic acid level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Methylmalonic acid Gene Set

From MW Enzyme Metabolite Associations

interacting proteins for Methylmalonic acid metabolite from the MW Gene Metabolite Associations dataset.

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

METHYLMALONIC ACIDURIA AND HOMOCYSTINU Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the METHYLMALONIC ACIDURIA AND HOMOCYSTINU phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

METHYLMALONIC ACIDU Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the METHYLMALONIC ACIDU phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic aciduria Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic aciduria of the cblA complementation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic aciduria of the cblA complementation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

METHYLMALONIC ACID Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the METHYLMALONIC ACID drug from theDGIdb Drug Targets 2026 dataset.