Name

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 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 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 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 IIB Gene Set

From ClinVar Gene-Phenotype Associations

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

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 iib Gene Set

From OMIM Gene-Disease Associations

genes associated with the glutaric acidemia iib phenotype from the curated OMIM 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.

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.

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.

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.

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.

OSTEOGENESIS IMPERFECTA, TYPE IIC Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the OSTEOGENESIS IMPERFECTA, TYPE IIC phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary Motor And Sensory Neuropathy, Type IIC Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy, Type IIC from the curated CTD Gene-Disease Associations dataset.

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC from the curated CTD Gene-Disease Associations dataset.

iic Gene Set

From GeneRIF Biological Term Annotations

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

Phenylalanyl-tRNA synthetase, class IIc, alpha subunit Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phenylalanyl-tRNA synthetase, class IIc, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Alanyl-tRNA synthetase, class IIc, core domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alanyl-tRNA synthetase, class IIc, core domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Alanine-tRNA ligase, class IIc, anti-codon-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alanine-tRNA ligase, class IIc, anti-codon-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phenylalanyl-tRNA synthetase, class IIc, mitochondrial Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phenylalanyl-tRNA synthetase, class IIc, mitochondrial protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phenylalanyl-tRNA synthetase, class IIc, beta subunit, archae/euk cytosolic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phenylalanyl-tRNA synthetase, class IIc, beta subunit, archae/euk cytosolic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Alanyl-tRNA synthetase, class IIc, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alanyl-tRNA synthetase, class IIc, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

P-type ATPase, subfamily IIC Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the P-type ATPase, subfamily IIC protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Alanine-tRNA ligase, class IIc Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alanine-tRNA ligase, class IIc protein domain from the InterPro Predicted Protein Domain Annotations dataset.

neuropathy, hereditary sensory, type iic Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuropathy, hereditary sensory, type iic phenotype from the curated OMIM Gene-Disease Associations dataset.

pseudohypoaldosteronism, type iic Gene Set

From OMIM Gene-Disease Associations

genes associated with the pseudohypoaldosteronism, type iic phenotype from the curated OMIM Gene-Disease Associations dataset.

?neuronopathy, distal hereditary motor, type iic Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?neuronopathy, distal hereditary motor, type iic phenotype from the curated OMIM Gene-Disease Associations dataset.

hereditary motor and sensory neuropathy, type iic Gene Set

From OMIM Gene-Disease Associations

genes associated with the hereditary motor and sensory neuropathy, type iic phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital disorder of glycosylation, type iic Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital disorder of glycosylation, type iic phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type iic, gpr98/pdzd7 digenic Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type iic, gpr98/pdzd7 digenic phenotype from the curated OMIM Gene-Disease Associations dataset.

Hereditary Motor And Sensory Neuropathy, Type Iic (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hereditary Motor And Sensory Neuropathy, Type Iic (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital disorder of glycosylation type IIc Gene Set

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

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

AESCULIOSIDE IIC Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the AESCULIOSIDE IIC drug from theDGIdb Drug Targets 2026 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.

glutaric acid Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical glutaric acid from the curated CTD Gene-Chemical Interactions 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.

Glutaric Acid Gene Set

From DrugBank Drug Targets

interacting proteins for the Glutaric Acid drug from the curated DrugBank Drug Targets dataset.

3-Hydroxy-3-Methyl-Glutaric Acid Gene Set

From DrugBank Drug Targets

interacting proteins for the 3-Hydroxy-3-Methyl-Glutaric Acid drug from the curated DrugBank Drug Targets dataset.

glutaric Gene Set

From GeneRIF Biological Term Annotations

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

Glutaric acid Gene Set

From HMDB Metabolites of Enzymes

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

[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.

Glutaric Aciduria Gene Set

From DisGeNET Gene-Disease Associations

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

Glutaric Aciduria Gene Set

From DisGeNET Gene-Phenotype Associations

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

Glutaric aciduria Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Elevated circulating glutaric acid concentration Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Elevated circulating glutaric acid concentration 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.

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.

Propionic acidemia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Propionic acidemia 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.