Name

HYPLIP2 Gene

hyperlipidemia, combined, 2

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.

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.

Combined D-2- And L-2-Hydroxyglutaric Aciduria Gene Set

From DisGeNET Gene-Disease Associations

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

Combined D-2- and L-2-hydroxyglutaric aciduria Gene Set

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

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

Orotic aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Orotic 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.

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.

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.

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 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.

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 Association Evidence Scores

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

argininosuccinic aciduria Gene Set

From DISEASES Curated Gene-Disease Association 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 Association 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.

argininosuccinic aciduria Gene Set

From DISEASES Text-mining Gene-Disease Association 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.

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.

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.

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 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.

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.

aciduria Gene Set

From MPO Gene-Phenotype Associations

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

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.

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-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.

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.

3-Methylglutaconic Aciduria Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 3-Methylglutaconic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Malonic Aciduria Gene Set

From DisGeNET Gene-Disease Associations

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

Argininosuccinic Aciduria Gene Set

From DisGeNET Gene-Disease Associations

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

3-Hydroxyisobutyric Aciduria Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 3-Hydroxyisobutyric Aciduria in GWAS and other genetic association datasets from the DisGeNET 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.

Fumaric Aciduria Gene Set

From DisGeNET Gene-Disease Associations

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

Hereditary Orotoic Aciduria Gene Set

From DisGeNET Gene-Disease Associations

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

Long-Chain Dicarboxylic Aciduria Gene Set

From DisGeNET Gene-Disease Associations

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

2-Aminoadipic 2-Oxoadipic Aciduria Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 2-Aminoadipic 2-Oxoadipic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Alpha Ketoadipic Aciduria Gene Set

From DisGeNET Gene-Disease Associations

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

Mevalonic Aciduria Gene Set

From DisGeNET Gene-Disease Associations

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

D-Glyceric Aciduria Gene Set

From DisGeNET Gene-Disease Associations

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

Hydroxymethylglutaric Aciduria Gene Set

From DisGeNET Gene-Disease Associations

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

Lactic Aciduria Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Lactic 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.

2-Methyl-3-Hydroxybutyric Aciduria Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype 2-Methyl-3-Hydroxybutyric Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Dicarboxylic Aciduria Gene Set

From DisGeNET Gene-Phenotype Associations

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

Medium Chain Dicarboxylic Aciduria Gene Set

From DisGeNET Gene-Phenotype Associations

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

Ethylmalonic Aciduria Gene Set

From DisGeNET Gene-Phenotype Associations

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

Orotic Aciduria Gene Set

From DisGeNET Gene-Phenotype Associations

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

Lactic Aciduria Gene Set

From DisGeNET Gene-Phenotype Associations

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

Organic Aciduria Gene Set

From DisGeNET Gene-Phenotype Associations

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

Alpha-Aminoadipic Aciduria Gene Set

From DisGeNET Gene-Phenotype Associations

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

3-Methylglutaric Aciduria Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype 3-Methylglutaric Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

4-Hydroxyphenylacetic Aciduria Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype 4-Hydroxyphenylacetic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

4-Hydroxyphenylpyruvic Aciduria Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype 4-Hydroxyphenylpyruvic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Aciduria Gene Set

From DisGeNET Gene-Phenotype Associations

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

dicarboxylic aciduria Gene Set

From MGI Mouse Phenotype Associations 2023

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

organic aciduria Gene Set

From MGI Mouse Phenotype Associations 2023

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

ethylmalonic aciduria Gene Set

From MGI Mouse Phenotype Associations 2023

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

homogentisic aciduria Gene Set

From MGI Mouse Phenotype Associations 2023

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

aciduria Gene Set

From MGI Mouse Phenotype Associations 2023

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

3-methylglutaconic aciduria Gene Set

From Reactome Pathways 2024

proteins participating in the 3-methylglutaconic aciduria pathway from the Reactome Pathways 2024 dataset.

Mevalonic aciduria Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

3-methylglutaconic aciduria type 5 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease 3-methylglutaconic aciduria type 5 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

3-methylglutaconic aciduria Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease 3-methylglutaconic aciduria from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Argininosuccinic aciduria Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

3-methylglutaconic aciduria type 3 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease 3-methylglutaconic aciduria type 3 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

3-methylglutaconic aciduria type 1 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease 3-methylglutaconic aciduria type 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

3-methylglutaconic aciduria Gene Set

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

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

3-methylglutaconic aciduria type 3 Gene Set

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

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

Mevalonic aciduria Gene Set

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

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

Orotic aciduria Gene Set

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

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

3-methylglutaconic aciduria type 5 Gene Set

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

genes co-occuring with the disease 3-methylglutaconic aciduria type 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

3-methylglutaconic aciduria type 4 Gene Set

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

genes co-occuring with the disease 3-methylglutaconic aciduria type 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Argininosuccinic aciduria Gene Set

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

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

3-methylglutaconic aciduria type 1 Gene Set

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

genes co-occuring with the disease 3-methylglutaconic aciduria type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

2-aminoadipic 2-oxoadipic aciduria Gene Set

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

genes co-occuring with the disease 2-aminoadipic 2-oxoadipic aciduria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 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.

D-glyceric aciduria Gene Set

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

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

3-methylglutaconic aciduria Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the 3-methylglutaconic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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.

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.

Mevalonic aciduria Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

2-aminoadipic 2-oxoadipic aciduria Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the 2-aminoadipic 2-oxoadipic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hereditary orotic aciduria Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

D-Glyceric aciduria Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the D-Glyceric 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.

Lactic aciduria due to D-lactic acid Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lactic aciduria due to D-lactic acid phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

3-Methylglutaric aciduria Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the 3-Methylglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined oxidative phosphorylation deficiency 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked severe combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency 18, severe combined immunodeficiency variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency 18, severe combined immunodeficiency variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lipase deficiency combined Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lipase deficiency combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 22 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 20 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 21 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined immunodeficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined immunodeficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitamin k-dependent clotting factors, combined deficiency of, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitamin k-dependent clotting factors, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, atypical Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, atypical phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperlipidemia, familial combined Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperlipidemia, familial combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency with sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anesthetics, Combined Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Anesthetics, Combined from the curated CTD Gene-Chemical Interactions dataset.

Contraceptives, Oral, Combined Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Contraceptives, Oral, Combined from the curated CTD Gene-Chemical Interactions dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset.

Hyperlipidemia, Familial Combined Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hyperlipidemia, Familial Combined from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency Gene Set

From CTD Gene-Disease Associations

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

Combined Oxidative Phosphorylation Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Lipase deficiency combined Gene Set

From CTD Gene-Disease Associations

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

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 from the curated CTD Gene-Disease Associations dataset.

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 1 from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 2 from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 4 from the curated CTD Gene-Disease Associations dataset.

Combined Saposin Deficiency Gene Set

From CTD Gene-Disease Associations

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

Combined Oxidative Phosphorylation Deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 1 from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 5 from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 4 from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation from the curated CTD Gene-Disease Associations dataset.

VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.

X-Linked Combined Immunodeficiency Diseases Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease X-Linked Combined Immunodeficiency Diseases from the curated CTD Gene-Disease Associations dataset.

severe combined immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

familial combined hyperlipidemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

lung combined type small cell carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease lung combined type small cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

severe combined immunodeficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

combined thymoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

hyperlipidemia, familial combined Gene Set

From GAD Gene-Disease Associations

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

hyperlipidemia, familial combined; insulin resistance; mixed hyperlipidemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperlipidemia, familial combined; insulin resistance; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary artery disease; hyperlipidemia, familial combined Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary artery disease; hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

familial combined hyperlipidemia Gene Set

From GAD Gene-Disease Associations

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

hyperlipidemia, familial combined; mixed hyperlipidemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperlipidemia, familial combined; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

familial combined hyperlipidaemia. Gene Set

From GAD Gene-Disease Associations

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

combined bone mass Gene Set

From GAD Gene-Disease Associations

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

fam hyperbetalipoproteinaemia; hyperlipidemia, familial combined; hyperlipoproteinemia type ii; hypertriglyceridemia; mixed hyperlipidemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fam hyperbetalipoproteinaemia; hyperlipidemia, familial combined; hyperlipoproteinemia type ii; hypertriglyceridemia; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lymphopenia; scid; severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lymphopenia; scid; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; coronary artery disease; hyperlipidemia, familial combined; mixed hyperlipidemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; coronary artery disease; hyperlipidemia, familial combined; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atherosclerosis; hyperlipidemia, familial combined Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atherosclerosis; hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

x-linked severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease x-linked severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary artery disease; hyperlipidemia, familial combined; metabolic syndrome x; mixed hyperlipidemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary artery disease; hyperlipidemia, familial combined; metabolic syndrome x; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood pressure; hyperlipidemia, familial combined Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood pressure; hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

combined pituitary hormone deficiency Gene Set

From GAD Gene-Disease Associations

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

immunologic deficiency syndromes; severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease immunologic deficiency syndromes; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; hyperlipidemia, familial combined Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

combined Gene Set

From GeneRIF Biological Term Annotations

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

Familial combined hyperlipidaemia_Blood monocyte_GSE11393 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Familial combined hyperlipidaemia_Blood monocyte_GSE11393 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Familial combined hyperlipidaemia_lymphoblast_GSE1010 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Familial combined hyperlipidaemia_lymphoblast_GSE1010 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Attention deficit hyperactivity disorder (combined symptoms) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Attention deficit hyperactivity disorder (combined symptoms) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

combined hyperlipidemia Gene Set

From HPO Gene-Disease Associations

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

severe combined immunodeficiency Gene Set

From HPO Gene-Disease Associations

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

combined immunodeficiency Gene Set

From HPO Gene-Disease Associations

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

Hyperlipidemia, Familial Combined Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Hyperlipidemia, Familial Combined phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Severe Combined Immunodeficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

combined c6/c7 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined c6/c7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to il2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 20 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 20 phenotype from the curated OMIM Gene-Disease Associations dataset.

vitamin k-dependent clotting factors, combined deficiency of, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the vitamin k-dependent clotting factors, combined deficiency of, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

vitamin k-dependent clotting factors, combined deficiency of, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the vitamin k-dependent clotting factors, combined deficiency of, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined hyperlipidemia, familial Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined hyperlipidemia, familial phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to ada deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

c1r/c1s deficiency, combined Gene Set

From OMIM Gene-Disease Associations

genes associated with the c1r/c1s deficiency, combined phenotype from the curated OMIM Gene-Disease Associations dataset.

?combined oxidative phosphorylation deficiency 19 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?combined oxidative phosphorylation deficiency 19 phenotype from the curated OMIM Gene-Disease Associations dataset.

?combined oxidative phosphorylation deficiency 16 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?combined oxidative phosphorylation deficiency 16 phenotype from the curated OMIM Gene-Disease Associations dataset.

pituitary hormone deficiency, combined, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pituitary hormone deficiency, combined, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 18 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 18 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 17 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 17 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 15 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 15 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined immunodeficiency, x-linked, moderate Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined immunodeficiency, x-linked, moderate phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, b cell-negative Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, b cell-negative phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, athabascan type Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, athabascan type phenotype from the curated OMIM Gene-Disease Associations dataset.

combined sap deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined sap deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

pituitary hormone deficiency, combined, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pituitary hormone deficiency, combined, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

pituitary hormone deficiency, combined, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pituitary hormone deficiency, combined, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

pituitary hormone deficiency, combined, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pituitary hormone deficiency, combined, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

pituitary hormone deficiency, combined, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pituitary hormone deficiency, combined, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

pituitary hormone deficiency, combined, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pituitary hormone deficiency, combined, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

{hyperlipidemia, familial combined, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hyperlipidemia, familial combined, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

lipase deficiency, combined Gene Set

From OMIM Gene-Disease Associations

genes associated with the lipase deficiency, combined phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

?combined oxidative phosphorylation deficiency 21 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?combined oxidative phosphorylation deficiency 21 phenotype from the curated OMIM Gene-Disease Associations dataset.

?combined oxidative phosphorylation deficiency 22 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?combined oxidative phosphorylation deficiency 22 phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperlipidemia, combined, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperlipidemia, combined, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Combined Immunodeficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Combined Immunodeficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Combined Immunodeficiency Disease Gene Set

From DisGeNET Gene-Disease Associations

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

Combined Molybdoflavoprotein Enzyme Deficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Obsolete Combined Hyperlipidemia Gene Set

From DisGeNET Gene-Disease Associations

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

Combined Saposin Deficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Subacute Combined Degeneration Gene Set

From DisGeNET Gene-Disease Associations

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

Primary Combined Hyperlipidemia Gene Set

From DisGeNET Gene-Disease Associations

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

Oi-Eds Combined Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Athabaskan Severe Combined Immunodeficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Combined Large Cell Neuroendocrine Carcinoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Combined Large Cell Neuroendocrine Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Combined Small Cell Carcinoma Gene Set

From DisGeNET Gene-Disease Associations

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

Combined Type Small Cell Lung Cancer Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Combined Type Small Cell Lung Cancer in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Lipase Deficiency Combined Gene Set

From DisGeNET Gene-Disease Associations

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

Other Combined Immunodeficiencies Gene Set

From DisGeNET Gene-Disease Associations

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

Combined Oxidative Phosphorylation Deficiency Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Combined Oxidative Phosphorylation Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Hyperlipidemia, Familial Combined, Susceptibility To Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Hyperlipidemia, Familial Combined, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe combined immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Combined immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Combined oxidative phosphorylation deficiency 12 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Combined oxidative phosphorylation deficiency 12 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Combined oxidative phosphorylation deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

X-linked severe combined immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease X-linked severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 1 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Combined oxidative phosphorylation deficiency 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 12 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined immunodeficiency Gene Set

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

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

Severe combined immunodeficiency Gene Set

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

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

X-linked severe combined immunodeficiency Gene Set

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

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

Combined oxidative phosphorylation deficiency Gene Set

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

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

Combined saposin deficiency Gene Set

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

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

Familial combined hyperlipidemia Gene Set

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

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

Combined oxidative phosphorylation deficiency 4 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set

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

genes co-occuring with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined thymoma Gene Set

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

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

Combined oxidative phosphorylation deficiency 3 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 1 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 52 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 52 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 39 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 39 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 6 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 32 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 32 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 21 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 21 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined deficiency of vitamin K-dependent clotting factors 1 Gene Set

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

genes co-occuring with the disease Combined deficiency of vitamin K-dependent clotting factors 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Hereditary combined deficiency of vitamin K-dependent clotting factors Gene Set

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

genes co-occuring with the disease Hereditary combined deficiency of vitamin K-dependent clotting factors in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 54 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 54 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 30 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 30 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 10 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 24 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 24 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 31 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 31 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 29 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 29 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 34 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 34 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 49 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 49 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 43 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 43 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 19 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 9 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 7 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 20 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 20 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined deficiency of vitamin K-dependent clotting factors 2 Gene Set

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

genes co-occuring with the disease Combined deficiency of vitamin K-dependent clotting factors 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 18 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 18 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 22 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 22 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 23 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 23 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 35 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 35 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 13 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 27 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 27 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Lung combined large cell neuroendocrine carcinoma Gene Set

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

genes co-occuring with the disease Lung combined large cell neuroendocrine carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Lung combined type small cell carcinoma Gene Set

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

genes co-occuring with the disease Lung combined type small cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 26 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 26 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 15 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 15 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 40 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 40 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 14 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 14 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 5 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 33 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 33 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 11 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 16 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 16 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 8 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 51 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 51 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 44 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 44 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 25 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 25 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 53 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 53 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 17 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 17 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 28 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 28 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 2 Gene Set

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

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency disease Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hepatoencephalopathy due to combined oxidative phosphorylation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hepatoencephalopathy due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to DCLRE1C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to DCLRE1C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Athabaskan severe combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Athabaskan severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Fatal mitochondrial disease due to combined oxidative phosphorylation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Fatal mitochondrial disease due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined molybdoflavoprotein enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined molybdoflavoprotein enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined pituitary hormone deficiencies Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined pituitary hormone deficiencies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the T-B+ severe combined immunodeficiency due to JAK3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked severe combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Combined immunodeficiency due to CD3gamma deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to CD3gamma deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to partial RAG1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to partial RAG1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to ZAP70 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to ZAP70 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

ZAP70-Related Severe Combined Immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the ZAP70-Related Severe Combined Immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined PSAP deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined PSAP deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Rare combined vascular malformation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rare combined vascular malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined oxidative phosphorylation deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined oxidative phosphorylation deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to LRBA deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to LRBA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to STK4 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to STK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to STIM1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to STIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CARD11 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CARD11 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to DOCK8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to DOCK8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CTPS1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to ORAI1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to ORAI1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Non-acquired combined pituitary hormone deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Non-acquired combined pituitary hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined Pituitary Hormone Deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined Pituitary Hormone Deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CARMIL2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to moesin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to moesin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to DNA-PKcs deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CORO1A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to OX40 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to OX40 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to IKK2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to MALT1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to MALT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to LCK deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to LCK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

TFRC-related combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the TFRC-related combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to LAT deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to LAT deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to GINS1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to GINS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Gout (combined type) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Gout (combined type) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Bone mineral density change response to combined chemotherapy in acute lymphoblastic leukemia Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Bone mineral density change response to combined chemotherapy in acute lymphoblastic leukemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Parental longevity (combined parental attained age, Martingale residuals) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Parental longevity (combined parental attained age, Martingale residuals) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Parental longevity (combined parental age at death) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Parental longevity (combined parental age at death) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

PMC5473732-mmc4.xlsx-TFM_sex-combined-Unnamed_11_AR Gene Set

From Rummagene Transcription Factor Associations 2026

target genes of the PMC5473732-mmc4.xlsx-TFM_sex-combined-Unnamed_11_AR transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.