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Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset. |
dystonia, dopa-responsive, due to sepiapterin reductase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, dopa-responsive, due to sepiapterin reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Sepiapterin reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sepiapterin reductase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Sepiapterin reductase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Sepiapterin reductase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Sepiapterin reductase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
sepiapterin reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the sepiapterin reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
Sepiapterin reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Sepiapterin reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
sepiapterin reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the sepiapterin reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
sepiapterin reductase (NADP+) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the sepiapterin reductase (NADP+) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Megaloblastic anemia due to dihydrofolate reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
megaloblastic anemia due to dihydrofolate reductase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia due to glutathione reductase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to glutathione reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Homocystinuria due to methylene tetrahydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hemolytic anemia due to glutathione reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to glutathione reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
sepiapterin Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical sepiapterin from the curated CTD Gene-Chemical Interactions dataset. |
sepiapterin Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term sepiapterin in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Sepiapterin Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Sepiapterin metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Sepiapterin Gene SetFrom MW Enzyme Metabolite Associations interacting proteins for Sepiapterin metabolite from the MW Gene Metabolite Associations dataset. |
SEPIAPTERIN Gene Setinteracting proteins for the SEPIAPTERIN drug from theDGIdb Drug Targets 2026 dataset. |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sulfite oxidase deficiency due to molybdenum cofactor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN from the curated CTD Gene-Disease Associations dataset. |
DOPA melanin Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical DOPA melanin from the curated CTD Gene-Chemical Interactions dataset. |
3-O-methyl-DOPA Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 3-O-methyl-DOPA from the curated CTD Gene-Chemical Interactions dataset. |
L-DOPA Gene Setinteracting proteins for the L-DOPA drug from the curated DrugBank Drug Targets dataset. |
dopa Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term dopa in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
regulation of l-dopa biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of l-dopa biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of l-dopa biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of l-dopa biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of l-dopa decarboxylase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of l-dopa decarboxylase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of l-dopa decarboxylase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of l-dopa decarboxylase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
l-dopa decarboxylase activator activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-dopa decarboxylase activator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
l-dopa receptor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-dopa receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
l-dopa binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-dopa binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
l-dopa decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-dopa decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
DL-Dopa Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the DL-Dopa metabolite from the curated HMDB Metabolites of Enzymes dataset. |
L-Dopa Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the L-Dopa metabolite from the curated HMDB Metabolites of Enzymes dataset. |
L-dopa degradation Gene SetFrom HumanCyc Pathways proteins participating in the L-dopa degradation pathway from the HumanCyc Pathways dataset. |
positive regulation of L-dopa biosynthetic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of L-dopa biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of L-dopa decarboxylase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of L-dopa decarboxylase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of L-dopa biosynthetic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of L-dopa biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of L-dopa decarboxylase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of L-dopa decarboxylase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
L-dopa decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-dopa decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
L-DOPA receptor activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-DOPA receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
L-dopa decarboxylase activator activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-dopa decarboxylase activator activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
DOPA Gene SetFrom MW Enzyme Metabolite Associations interacting proteins for DOPA metabolite from the MW Gene Metabolite Associations dataset. |
positive regulation of L-dopa biosynthetic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of L-dopa biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of L-dopa biosynthetic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of L-dopa biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
L-dopa decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-dopa decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
L-DOPA receptor activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-DOPA receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
L-dopa decarboxylase activator activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-dopa decarboxylase activator activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
2,4-Dienoyl-CoA reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 2,4-Dienoyl-CoA reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of pyrroline-5-carboxylate reductase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of pyrroline-5-carboxylate reductase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortisone reductase deficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortisone reductase deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dihydropteridine reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dihydropteridine reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methylenetetrahydrofolate reductase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylenetetrahydrofolate reductase deficiency from the curated CTD Gene-Disease Associations dataset. |
Cortisone reductase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cortisone reductase deficiency from the curated CTD Gene-Disease Associations dataset. |
NADH cytochrome B5 reductase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NADH cytochrome B5 reductase deficiency from the curated CTD Gene-Disease Associations dataset. |
2,4-Dienoyl-CoA Reductase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 2,4-Dienoyl-CoA Reductase Deficiency from the curated CTD Gene-Disease Associations dataset. |
methylenetetrahydrofolate reductase deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease methylenetetrahydrofolate reductase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
?2,4-dienoyl-coa reductase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?2,4-dienoyl-coa reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortisone reductase deficiency 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortisone reductase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortisone reductase deficiency 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortisone reductase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lysine Alpha-Ketoglutarate Reductase Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nicotinamide Adenine Dinucleotide Coenzyme Q Reductase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nicotinamide Adenine Dinucleotide Coenzyme Q Reductase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
5,10-Methylenetetrahydrofolate Reductase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 5,10-Methylenetetrahydrofolate Reductase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Deficiency Of Reductase Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Deficiency Of Reductase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nadh Cytochrome B5 Reductase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nadh Cytochrome B5 Reductase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
5-Alpha Reductase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 5-Alpha Reductase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nadh-Cytochrome B5 Reductase Deficiency, Type I Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nadh-Cytochrome B5 Reductase Deficiency, Type I in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nadh-Cytochrome B5 Reductase Deficiency, Type Ii Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nadh-Cytochrome B5 Reductase Deficiency, Type Ii in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cortisone Reductase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cortisone Reductase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Methylenetetrahydrofolate Reductase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Methylenetetrahydrofolate Reductase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
2,4-Dienoyl-Coa Reductase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 2,4-Dienoyl-Coa Reductase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
7-Dehydrocholesterol Reductase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 7-Dehydrocholesterol Reductase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Deficiency Of Dihydrofolate Reductase Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Deficiency Of Dihydrofolate Reductase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Succinate-Coenzyme Q Reductase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Succinate-Coenzyme Q Reductase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cortisone reductase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cortisone reductase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cortisone reductase deficiency 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cortisone reductase deficiency 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Deficiency of cytochrome-b5 reductase Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Deficiency of cytochrome-b5 reductase phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Dihydropteridine reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Dihydropteridine reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cortisone reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cortisone reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Fatty acyl-CoA reductase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fatty acyl-CoA reductase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Carbonic anhydrase va deficiency, hyperammonemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
SCID due to ADA deficiency, delayed onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia due to protein S deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency due to ADA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
HNSHA due to aldolase A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gaucher disease, atypical, due to saposin C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemolytic anemia due to hexokinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocysteinemia due to MTHFR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency due to ficolin 3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypermethioninemia due to adenosine kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Muscular dystrophy, congenital, due to ITGA7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocystinuria due to MTHFR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex II deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, severe, due to leptin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenylate kinase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset. |
Congenital thrombotic disease, due to Protein C deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset. |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset. |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset. |
Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset. |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene SetFrom 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. |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene SetFrom 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. |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset. |
Krabbe Disease, Atypical, due to Saposin A Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset. |
Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset. |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset. |
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Metachromatic Leukodystrophy due to Saposin B Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Metachromatic Leukodystrophy due to Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset. |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
{chronic infections, due to mbl deficiency} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {chronic infections, due to mbl deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to hrg deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to hrg deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency due to il2 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to protein s deficiency, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia due to phosphofructokinase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to phosphofructokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephropathy due to cfhr5 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephropathy due to cfhr5 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to protein s deficiency, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein s deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
chronic granulomatous disease, autosomal, due to deficiency of cyba Gene SetFrom OMIM Gene-Disease Associations genes associated with the chronic granulomatous disease, autosomal, due to deficiency of cyba phenotype from the curated OMIM Gene-Disease Associations dataset. |
?isolated growth hormone deficiency due to defect in ghrf Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to heparin cofactor ii deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to heparin cofactor ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, morbid, due to leptin receptor deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, morbid, due to leptin receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
glucocorticoid deficiency, due to acth unresponsiveness Gene SetFrom OMIM Gene-Disease Associations genes associated with the glucocorticoid deficiency, due to acth unresponsiveness phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, congenital, due to partial lama2 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, due to partial lama2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency due to purine nucleoside phosphorylase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia due to glutathione peroxidase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to glutathione peroxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to protein c deficiency, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein c deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
lacticacidemia due to pdx1 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the lacticacidemia due to pdx1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, congenital, due to itga7 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, due to itga7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
anemia, hemolytic, due to umph1 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the anemia, hemolytic, due to umph1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
homocystinuria due to mthfr deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the homocystinuria due to mthfr deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency due to ada deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
leigh syndrome due to mitochondrial complex i deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the leigh syndrome due to mitochondrial complex i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to protein c deficiency, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein c deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
cirrhosis due to liver phosphorylase kinase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the cirrhosis due to liver phosphorylase kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
metachromatic leukodystrophy due to sap-b deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the metachromatic leukodystrophy due to sap-b deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, morbid, due to leptin deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, morbid, due to leptin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
leigh syndrome, due to cox deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the leigh syndrome, due to cox deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
growth retardation with deafness and mental retardation due to igf1 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the growth retardation with deafness and mental retardation due to igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperammonemia due to carbonic anhydrase va deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperammonemia due to carbonic anhydrase va deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia due to g6pd deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to g6pd deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia due to glutathione synthetase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to glutathione synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
bare lymphocyte syndrome, type i, due to tap2 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the bare lymphocyte syndrome, type i, due to tap2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia due to adenylate kinase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to adenylate kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
emphysema due to aat deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the emphysema due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, adrenal insufficiency, and red hair due to pomc deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, adrenal insufficiency, and red hair due to pomc deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to antithrombin iii deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to antithrombin iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
erythrocytosis due to bisphosphoglycerate mutase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the erythrocytosis due to bisphosphoglycerate mutase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
aica-ribosiduria due to atic deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the aica-ribosiduria due to atic deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypoaldosteronism, congenital, due to cmo i deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypoaldosteronism, congenital, due to cmo i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
leigh syndrome due to mitochondrial cox4 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the leigh syndrome due to mitochondrial cox4 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
chronic granulomatous disease due to deficiency of ncf-2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the chronic granulomatous disease due to deficiency of ncf-2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
chronic granulomatous disease due to deficiency of ncf-1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the chronic granulomatous disease due to deficiency of ncf-1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypermethioninemia due to adenosine kinase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypermethioninemia due to adenosine kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
leigh syndrome due to cytochrome c oxidase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the leigh syndrome due to cytochrome c oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
pyogenic bacterial infections, recurrent, due to myd88 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the pyogenic bacterial infections, recurrent, due to myd88 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
neurodegeneration due to cerebral folate transport deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the neurodegeneration due to cerebral folate transport deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency due to ficolin 3 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency due to ficolin 3 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
leigh syndrome due to mitochondrial complex 1 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the leigh syndrome due to mitochondrial complex 1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia due to triosephosphate isomerase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to triosephosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
{resistance to malaria due to g6pd deficiency} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {resistance to malaria due to g6pd deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia due to hexokinase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to hexokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy due to cpt ii deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy due to cpt ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
emphysema-cirrhosis, due to aat deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the emphysema-cirrhosis, due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypoaldosteronism, congenital, due to cmo ii deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypoaldosteronism, congenital, due to cmo ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
?male infertility due to acrosin deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?male infertility due to acrosin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy due to myoadenylate deaminase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy due to myoadenylate deaminase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) Gene Setproteins participating in the Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) pathway from the Reactome Pathways dataset. |
Scid Due To Ada Deficiency, Early-Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Scid Due To Ada Deficiency, Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypermethioninemia Due To Adenosine Kinase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypermethioninemia Due To Adenosine Kinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Leigh Syndrome Due To Mitochondrial Complex I Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Antibody Deficiency Due To Defect In Cd19 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Antibody Deficiency Due To Defect In Cd19 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Krabbe Disease, Atypical, Due To Saposin A Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Krabbe Disease, Atypical, Due To Saposin A Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hemolytic Anemia Due To Hexokinase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hemolytic Anemia Due To Hexokinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary Immunodeficiency Syndrome Due To P14 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Immunodeficiency Syndrome Due To P14 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Thrombotic Disease, Due To Protein C Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Thrombotic Disease, Due To Protein C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metachromatic Leukodystrophy Due To Saposin B Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metachromatic Leukodystrophy Due To Saposin B Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Extraoral Halitosis Due To Methanethiol Oxidase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Extraoral Halitosis Due To Methanethiol Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Developmental And Speech Delay Due To Sox5 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Developmental And Speech Delay Due To Sox5 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Osteomalacia Due To Vitamin D Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Osteomalacia Due To Vitamin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy due to integrin alpha-7 deficiency 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 SetFrom 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. |
Thrombophilia due to HRG deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to HRG deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive thrombophilia due to protein C deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant thrombophilia due to protein C deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant thrombophilia due to protein S deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant thrombophilia due to protein S deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperphenylalaninemia due to tetrahydrobiopterin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Thrombophilia due to protein C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary thrombophilia due to congenital protein C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombophilia due to congenital protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene SetFrom 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. |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Gene SetFrom 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. |
SCID due to ADA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SCID due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to glycogen branching enzyme deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to glycogen branching enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Predisposition to invasive fungal disease due to CARD9 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Predisposition to invasive fungal disease due to CARD9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive ataxia due to ubiquinone deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive ataxia due to ubiquinone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to acid maltase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to acid maltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndromic multisystem autoimmune disease due to ITCH deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic multisystem autoimmune disease due to ITCH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to DCLRE1C deficiency Gene SetFrom 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. |
Immunodeficiency due to ficolin3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to ficolin3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal intrahepatic cholestasis due to citrin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal intrahepatic cholestasis due to citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature due to growth hormone secretagogue receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to growth hormone secretagogue receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Interstitial lung disease due to ABCA3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Interstitial lung disease due to ABCA3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to leptin receptor gene deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to leptin receptor gene deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ehlers-Danlos syndrome due to tenascin-X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ehlers-Danlos syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature due to partial GHR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to partial GHR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene SetFrom 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. |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked lymphoproliferative disease due to SH2D1A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked lymphoproliferative disease due to SH2D1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to glucose-6-phosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to glucose-6-phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to CD3gamma deficiency Gene SetFrom 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. |
Leigh syndrome due to mitochondrial complex IV deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Leigh syndrome due to mitochondrial complex IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to partial RAG1 deficiency Gene SetFrom 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 SetFrom 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. |
Thrombophilia due to protein S deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to pro-opiomelanocortin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to pro-opiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Gaucher disease due to saposin C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Gaucher disease due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Krabbe disease due to saposin A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Krabbe disease due to saposin A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hemolytic anemia due to glucophosphate isomerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to glucophosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to melanocortin 4 receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to melanocortin 4 receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hyperinsulinism due to HNF1A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to HNF1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disorder due to hepatic glycogen synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disorder due to hepatic glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Encephalopathy due to GLUT1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalopathy due to GLUT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hyperinsulinism due to glucokinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to glucokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to muscle beta-enolase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to muscle beta-enolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to LRBA deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Epidermolysis bullosa simplex due to plakophilin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Epidermolysis bullosa simplex due to plakophilin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CARD11 deficiency Gene SetFrom 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. |
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to DOCK8 deficiency Gene SetFrom 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. |
Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to integrin alpha-7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Limb-girdle muscular dystrophy due to POMK deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Limb-girdle muscular dystrophy due to POMK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Vasculitis due to ADA2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Vasculitis due to ADA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to muscle and heart glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Microcephalic primordial dwarfism due to RTTN deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephalic primordial dwarfism due to RTTN deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ketoacidosis due to monocarboxylate transporter-1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ketoacidosis due to monocarboxylate transporter-1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Microcephalic primordial dwarfism due to ZNF335 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephalic primordial dwarfism due to ZNF335 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autism spectrum disorder due to AUTS2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autism spectrum disorder due to AUTS2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pyogenic bacterial infections due to MyD88 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyogenic bacterial infections due to MyD88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Childhood encephalopathy due to thiamine pyrophosphokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CTPS1 deficiency Gene SetFrom 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. |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to CSF3R deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to ORAI1 deficiency Gene SetFrom 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. |
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hyperinsulinism due to INSR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to INSR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Immunodeficiency due to CD25 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to CD25 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to SIM1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to SIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hemolytic anemia due to hexokinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked lymphoproliferative disease due to XIAP deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked lymphoproliferative disease due to XIAP deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CARMIL2 deficiency Gene SetFrom 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. |
Growth delay due to insulin-like growth factor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth delay due to insulin-like growth factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Immunodeficiency due to MASP-2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to MASP-2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital brain dysgenesis due to glutamine synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital brain dysgenesis due to glutamine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to prohormone convertase I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to prohormone convertase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to congenital leptin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to congenital leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hyperlipidemia due to hepatic triglyceride lipase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperlipidemia due to hepatic triglyceride lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature due to primary acid-labile subunit deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to primary acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
HNSHA due to aldolase A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to moesin deficiency Gene SetFrom 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. |
Hemolytic anemia due to adenylate kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to adenylate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to DNA-PKcs deficiency Gene SetFrom 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. |
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CORO1A deficiency Gene SetFrom 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. |
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to OX40 deficiency Gene SetFrom 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 SetFrom 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. |
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant hyperinsulinism due to SUR1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant hyperinsulinism due to SUR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hyperinsulinism due to HNF4A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to HNF4A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to MALT1 deficiency Gene SetFrom 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 SetFrom 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. |
Immunodeficiency due to a late component of complement deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to a late component of complement deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Recurrent Neisseria infections due to factor D deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Recurrent Neisseria infections due to factor D deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hyperphenylalaninemia due to DNAJC12 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperphenylalaninemia due to DNAJC12 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to CEP19 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to CEP19 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary immunodeficiency syndrome due to p14 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary immunodeficiency syndrome due to p14 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to LAT deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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. |
Neurometabolic disorder due to serine deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neurometabolic disorder due to serine deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Immunodeficiency due to purine nucleoside phosphorylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary thrombophilia due to congenital protein S deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombophilia due to congenital protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hypermanganesemia with dystonia, polycythemia and cirrhosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypermanganesemia with dystonia, polycythemia and cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 24 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant torsion dystonia 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant torsion dystonia 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myoclonic dystonia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myoclonic dystonia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Juvenile-onset dystonia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Juvenile-onset dystonia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 25 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 25 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 6, torsion Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 6, torsion phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 3, torsion, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 3, torsion, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile Parkinsonism-dystonia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile Parkinsonism-dystonia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Parkinsonism-Dystonia, Infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Parkinsonism-Dystonia, Infantile from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp from the curated CTD Gene-Disease Associations dataset. |
Dystonia musculorum deformans type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia musculorum deformans type 2 from the curated CTD Gene-Disease Associations dataset. |
Dystonia 13, Torsion Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 13, Torsion from the curated CTD Gene-Disease Associations dataset. |
Dystonia musculorum deformans type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia musculorum deformans type 1 from the curated CTD Gene-Disease Associations dataset. |
Torsion dystonia 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Torsion dystonia 7 from the curated CTD Gene-Disease Associations dataset. |
Dystonia 17, Torsion, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 17, Torsion, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Dystonia 15, myoclonic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 15, myoclonic from the curated CTD Gene-Disease Associations dataset. |
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY from the curated CTD Gene-Disease Associations dataset. |
Dystonia 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 12 from the curated CTD Gene-Disease Associations dataset. |
Myoclonic dystonia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myoclonic dystonia from the curated CTD Gene-Disease Associations dataset. |
Familial paroxysmal dystonia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial paroxysmal dystonia from the curated CTD Gene-Disease Associations dataset. |
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypermanganesemia with Dystonia Polycythemia and Cirrhosis from the curated CTD Gene-Disease Associations dataset. |
Juvenile-onset dystonia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Juvenile-onset dystonia from the curated CTD Gene-Disease Associations dataset. |
Dystonia 3, Torsion, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 3, Torsion, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Dystonia 6, torsion Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 6, torsion from the curated CTD Gene-Disease Associations dataset. |
Cervical Dystonia, Primary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cervical Dystonia, Primary from the curated CTD Gene-Disease Associations dataset. |
Dystonia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia from the curated CTD Gene-Disease Associations dataset. |
generalized dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease generalized dystonia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease dystonia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
deafness dystonia syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease deafness dystonia syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
dystonia Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease dystonia in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cranio-facial dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cranio-facial dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
focal dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease focal dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
generalized dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease generalized dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
deafness dystonia syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease deafness dystonia syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
dystonia, primary torsion Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia, primary torsion in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
complex regional pain syndromes; dystonia; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease complex regional pain syndromes; dystonia; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myoclonus dystonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myoclonus dystonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
idiopathic torsion dystonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease idiopathic torsion dystonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia, primary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia, primary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome deletion; dystonia; myoclonus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome deletion; dystonia; myoclonus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cervical dystonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cervical dystonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia, cervical Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia, cervical in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia, focal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia, focal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blepharospasm; dystonia; dystonic disorders; torticollis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blepharospasm; dystonia; dystonic disorders; torticollis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia, early onset primary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia, early onset primary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
akathisia, drug-induced; dystonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease akathisia, drug-induced; dystonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia; psychomotor disorders; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia; psychomotor disorders; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
focal dystonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease focal dystonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term dystonia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Musician's dystonia Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Musician's dystonia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
craniofacial dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the craniofacial dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limb dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the limb dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
generalized dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the generalized dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
axial dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the axial dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
oromandibular dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the oromandibular dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
paroxysmal dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the paroxysmal dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
laryngeal dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the laryngeal dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
torsion dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the torsion dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
focal dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the focal dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Dystonia Musculorum Deformans Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Dystonia Musculorum Deformans phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Dystonia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Dystonia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
dystonia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the dystonia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
dystonia 6, torsion Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 6, torsion phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-17, primary torsion Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-17, primary torsion phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-parkinsonism, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-parkinsonism, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 4, torsion, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 4, torsion, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 13, torsion Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 13, torsion phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 21 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 21 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 24 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 24 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 25 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 25 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia, primary cervical Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, primary cervical phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia, myoclonic Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, myoclonic phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, dystonia, and cerebral hypomyelination Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, dystonia, and cerebral hypomyelination phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-1, torsion Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-1, torsion phenotype from the curated OMIM Gene-Disease Associations dataset. |
{dystonia-1, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {dystonia-1, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
parkinsonism-dystonia, infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the parkinsonism-dystonia, infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-7, torsion Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-7, torsion phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-11, myoclonic Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-11, myoclonic phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia, juvenile-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, juvenile-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-15, myoclonic Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-15, myoclonic phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypermanganesemia with dystonia, polycythemia, and cirrhosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypermanganesemia with dystonia, polycythemia, and cirrhosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukoencephalopathy with dystonia and motor neuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukoencephalopathy with dystonia and motor neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia, early-onset atypical, with myoclonic features Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, early-onset atypical, with myoclonic features phenotype from the curated OMIM Gene-Disease Associations dataset. |
Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Juvenile-Onset Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Juvenile-Onset Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myoclonic Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myoclonic Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Focal Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Dominant Familial Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Familial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Recessive Familial Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Familial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Idiopathic Familial Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Familial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Early Onset Torsion Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Early Onset Torsion Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Musician'S Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Musician'S Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Segmental Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Segmental Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Isolated Cervical Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Isolated Cervical Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fragments Of Torsion Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fragments Of Torsion Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Idiopathic Non-Familial Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Non-Familial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Symptomatic Torsion Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Symptomatic Torsion Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cervical Dystonia, Primary Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cervical Dystonia, Primary in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Laryngeal Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Laryngeal Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Craniofacial Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Craniofacial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Leber Optic Atrophy And Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Leber Optic Atrophy And Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acquired Torsion Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acquired Torsion Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Torsion Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Torsion Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Myoclonic Epilepsy With Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Myoclonic Epilepsy With Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Generalized Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Cervical Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cervical Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Oromandibular Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Oromandibular Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Lingual Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lingual Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Axial Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Axial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Acute Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Acute Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Leg Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Leg Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Other Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Other Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
dystonia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the dystonia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5619081 Gene Setproteins participating in the Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5619081 pathway from the Reactome Pathways 2024 dataset. |
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5660724 Gene Setproteins participating in the Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5660724 pathway from the Reactome Pathways 2024 dataset. |
Dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Dystonia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Focal dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Focal dystonia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
X-linked dystonia-parkinsonism Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked dystonia-parkinsonism from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Torsion dystonia 6 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Torsion dystonia 6 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Generalized dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Generalized dystonia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Dystonia 12 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Dystonia 12 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Dystonia 16 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Dystonia 16 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Multifocal dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Multifocal dystonia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
deafness-dystonia-optic neuronopathy syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease deafness-dystonia-optic neuronopathy syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hypermanganesemia with dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hypermanganesemia with dystonia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Leber hereditary optic neuropathy and dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Leber hereditary optic neuropathy and dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Focal dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Focal dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
deafness-dystonia-optic neuronopathy syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease deafness-dystonia-optic neuronopathy syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 12 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Focal hand dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Focal hand dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multifocal dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multifocal dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Oromandibular dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oromandibular dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Segmental dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Segmental dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile parkinsonism-dystonia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile parkinsonism-dystonia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 16 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 16 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spasmodic dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spasmodic dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypermanganesemia with dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypermanganesemia with dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypermanganesemia with dystonia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypermanganesemia with dystonia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cervical dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cervical dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Torsion dystonia 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Torsion dystonia 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked dystonia-parkinsonism Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked dystonia-parkinsonism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Generalized dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Generalized dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 28, childhood-onset Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 28, childhood-onset in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Torsion dystonia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Torsion dystonia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease childhood-onset dystonia with optic atrophy and basal ganglia abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myoclonic dystonia 26 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myoclonic dystonia 26 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 27 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 27 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myoclonic dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myoclonic dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 31 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 31 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 30 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 30 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypermanganesemia with dystonia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypermanganesemia with dystonia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 23 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 23 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
deafness, dystonia, and cerebral hypomyelination Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease deafness, dystonia, and cerebral hypomyelination in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myoclonic dystonia 11 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myoclonic dystonia 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 35, childhood-onset Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 35, childhood-onset in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cranio-facial dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cranio-facial dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 32 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 32 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Torsion dystonia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Torsion dystonia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 25 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 25 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Torsion dystonia 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Torsion dystonia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 24 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 24 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Torsion dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Torsion dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Paroxysmal dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Paroxysmal dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset generalized limb-onset dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset generalized limb-onset dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myoclonic dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myoclonic dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Developmental malformations-deafness-dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental malformations-deafness-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Parkinsonism-dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Parkinsonism-dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neurodegenerative illness progressing to crippling dystonia and death Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neurodegenerative illness progressing to crippling dystonia and death phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Limb dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Limb dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Generalized dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Generalized dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myoclonus-dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myoclonus-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked dystonia-parkinsonism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked dystonia-parkinsonism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Deafness dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Deafness dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TSPOAP1-related Dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TSPOAP1-related Dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Musician's dystonia Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Musician's dystonia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Neuraminidase deficiency with beta-galactosidase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset. |
eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
choline deficiency; dna damage; folic acid deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease choline deficiency; dna damage; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; iron deficiency anaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
protein c deficiency; protein s deficiency; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; iron deficiency anaemia; iron overload Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Setproteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset. |
Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Setproteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset. |
Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Setproteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset. |
Defective HK1 causes hexokinase deficiency (HK deficiency) Gene Setproteins participating in the Defective HK1 causes hexokinase deficiency (HK deficiency) pathway from the Reactome Pathways 2024 dataset. |
Peroxisomal fatty acyl-coa reductase 1 disorder Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peroxisomal fatty acyl-coa reductase 1 disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
fumarate reductase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the fumarate reductase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
fumarate reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the fumarate reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
ribonucleoside-diphosphate reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the ribonucleoside-diphosphate reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
glycine reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the glycine reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
nitrate reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the nitrate reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
Hydroxymethylglutaryl-CoA Reductase Inhibitors Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Hydroxymethylglutaryl-CoA Reductase Inhibitors from the curated CTD Gene-Chemical Interactions dataset. |
carbonyl reductase 1 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carbonyl reductase 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hmg-coa reductase inhibitors Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hmg-coa reductase inhibitors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
reductase Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term reductase in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
regulation of pyrroline-5-carboxylate reductase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of pyrroline-5-carboxylate reductase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of pyrroline-5-carboxylate reductase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of pyrroline-5-carboxylate reductase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
gmp reductase complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the gmp reductase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
fumarate reductase complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the fumarate reductase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
carbonyl reductase (nadph) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the carbonyl reductase (nadph) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
arsenate reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the arsenate reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
riboflavin reductase (nadph) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the riboflavin reductase (nadph) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
delta14-sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the delta14-sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
nadph-adrenodoxin reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the nadph-adrenodoxin reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ferredoxin-nadp+ reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ferredoxin-nadp+ reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
3-keto sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 3-keto sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
l-glucuronate reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-glucuronate reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
dihydronicotinamide riboside quinone reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the dihydronicotinamide riboside quinone reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
gdp-4-dehydro-d-rhamnose reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the gdp-4-dehydro-d-rhamnose reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
prostaglandin-e2 9-reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the prostaglandin-e2 9-reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
trans-2-enoyl-coa reductase (nadph) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the trans-2-enoyl-coa reductase (nadph) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
cholestenone 5-alpha-reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the cholestenone 5-alpha-reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
enoyl-[acyl-carrier-protein] reductase (nadph, a-specific) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the enoyl-[acyl-carrier-protein] reductase (nadph, a-specific) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
nadph-hemoprotein reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the nadph-hemoprotein reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
nitrate reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the nitrate reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
peptide-methionine (r)-s-oxide reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the peptide-methionine (r)-s-oxide reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
dihydrofolate reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the dihydrofolate reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
iron-cytochrome-c reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the iron-cytochrome-c reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
mercury (ii) reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the mercury (ii) reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
cupric reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the cupric reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
delta24-sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the delta24-sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
[methionine synthase] reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the [methionine synthase] reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
2-alkenal reductase [nad(p)] activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 2-alkenal reductase [nad(p)] activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
3-dehydrosphinganine reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 3-dehydrosphinganine reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
cytochrome-b5 reductase activity, acting on nad(p)h Gene SetFrom GO Molecular Function Annotations 2015 genes performing the cytochrome-b5 reductase activity, acting on nad(p)h molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ferric-chelate reductase (nadph) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ferric-chelate reductase (nadph) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
6,7-dihydropteridine reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 6,7-dihydropteridine reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
l-xylulose reductase (nadp+) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-xylulose reductase (nadp+) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
protein-disulfide reductase (glutathione) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the protein-disulfide reductase (glutathione) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
aldo-keto reductase (nadp) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the aldo-keto reductase (nadp) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glyoxylate reductase (nadp) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glyoxylate reductase (nadp) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
geranylgeranyl reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the geranylgeranyl reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
chlordecone reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the chlordecone reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutathione-disulfide reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutathione-disulfide reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
gmp reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the gmp reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
long-chain-fatty-acyl-coa reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the long-chain-fatty-acyl-coa reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
[hydroxymethylglutaryl-coa reductase (nadph)] kinase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the [hydroxymethylglutaryl-coa reductase (nadph)] kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
1,5-anhydro-d-fructose reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 1,5-anhydro-d-fructose reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
peptide-methionine (s)-s-oxide reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the peptide-methionine (s)-s-oxide reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
enone reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the enone reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
enoyl-[acyl-carrier-protein] reductase (nadph, b-specific) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the enoyl-[acyl-carrier-protein] reductase (nadph, b-specific) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
2,4-dienoyl-coa reductase (nadph) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 2,4-dienoyl-coa reductase (nadph) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
arsenate reductase (glutaredoxin) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the arsenate reductase (glutaredoxin) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
all-trans-retinol 13,14-reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the all-trans-retinol 13,14-reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
thioredoxin-disulfide reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the thioredoxin-disulfide reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ubiquinol-cytochrome-c reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ubiquinol-cytochrome-c reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
methylenetetrahydrofolate reductase (nad(p)h) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the methylenetetrahydrofolate reductase (nad(p)h) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
pyrroline-5-carboxylate reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the pyrroline-5-carboxylate reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
7-dehydrocholesterol reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 7-dehydrocholesterol reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
methylarsonate reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the methylarsonate reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
biliverdin reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the biliverdin reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
13-prostaglandin reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 13-prostaglandin reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
electron transporter, transferring electrons from coqh2-cytochrome c reductase complex and cytochrome c oxidase complex activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the electron transporter, transferring electrons from coqh2-cytochrome c reductase complex and cytochrome c oxidase complex activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
methionine-r-sulfoxide reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the methionine-r-sulfoxide reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
3-oxoacyl-[acyl-carrier-protein] reductase (nadph) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 3-oxoacyl-[acyl-carrier-protein] reductase (nadph) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
fatty-acyl-coa reductase (alcohol-forming) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the fatty-acyl-coa reductase (alcohol-forming) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
vitamin-k-epoxide reductase (warfarin-sensitive) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the vitamin-k-epoxide reductase (warfarin-sensitive) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
diiodophenylpyruvate reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the diiodophenylpyruvate reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
delta24(24-1) sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the delta24(24-1) sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
sterol 5-alpha reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the sterol 5-alpha reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ferric-chelate reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ferric-chelate reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
hydroxymethylglutaryl-coa reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the hydroxymethylglutaryl-coa reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
nadph:quinone reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the nadph:quinone reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
aquacobalamin reductase (nadph) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the aquacobalamin reductase (nadph) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
hydroxypyruvate reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the hydroxypyruvate reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alkyl hydroperoxide reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alkyl hydroperoxide reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
delta4-3-oxosteroid 5beta-reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the delta4-3-oxosteroid 5beta-reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
hydroxymethylglutaryl-coa reductase (nadph) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the hydroxymethylglutaryl-coa reductase (nadph) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
protein-disulfide reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the protein-disulfide reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
Hydroxymethylglutaryl-CoA reductase, class I/II, NAD/NADP-binding domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Hydroxymethylglutaryl-CoA reductase, class I/II, NAD/NADP-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Biliverdin reductase, catalytic Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Biliverdin reductase, catalytic protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Hydroxymethylglutaryl-CoA reductase, class I/II, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Hydroxymethylglutaryl-CoA reductase, class I/II, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Flavoprotein pyridine nucleotide cytochrome reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Flavoprotein pyridine nucleotide cytochrome reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ribonucleotide reductase R1 subunit, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonucleotide reductase R1 subunit, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ribonucleotide reductase-related Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonucleotide reductase-related protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
NADH-ubiquinone reductase complex 1 MLRQ subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH-ubiquinone reductase complex 1 MLRQ subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Biliverdin reductase A Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Biliverdin reductase A protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Gamma-glutamyl phosphate reductase GPR Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-glutamyl phosphate reductase GPR protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Cytochrome b561/ferric reductase transmembrane Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome b561/ferric reductase transmembrane protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Succinate dehydrogenase/fumarate reductase flavoprotein, catalytic domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Succinate dehydrogenase/fumarate reductase flavoprotein, catalytic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
NADPH-cytochrome P450 reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the NADPH-cytochrome P450 reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Hydroxymethylglutaryl-CoA reductase, eukaryotic/arcaheal type Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Hydroxymethylglutaryl-CoA reductase, eukaryotic/arcaheal type protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Protein-tyrosine phosphatase/arsenate reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein-tyrosine phosphatase/arsenate reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Thioredoxin/glutathione reductase selenoprotein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Thioredoxin/glutathione reductase selenoprotein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Guanosine monophosphate reductase 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Guanosine monophosphate reductase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Methylenetetrahydrofolate reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Methylenetetrahydrofolate reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Succinate dehydrogenase/Fumarate reductase, transmembrane subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Succinate dehydrogenase/Fumarate reductase, transmembrane subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pyrroline-5-carboxylate reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyrroline-5-carboxylate reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
dTDP-4-dehydrorhamnose reductase family Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the dTDP-4-dehydrorhamnose reductase family protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Dihydrofolate reductase-like domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Dihydrofolate reductase-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ferredoxin-NADP+ reductase, adrenodoxin-type Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ferredoxin-NADP+ reductase, adrenodoxin-type protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Gamma interferon inducible lysosomal thiol reductase GILT Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma interferon inducible lysosomal thiol reductase GILT protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Cytochrome b reductase 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome b reductase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Dihydrofolate reductase domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Dihydrofolate reductase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ubiquinol cytochrome reductase, transmembrane domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquinol cytochrome reductase, transmembrane domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ubiquinol-cytochrome C reductase hinge domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquinol-cytochrome C reductase hinge domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ferric reductase, NAD binding Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ferric reductase, NAD binding protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Dehydrogenase/reductase SDR member 4-like Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Dehydrogenase/reductase SDR member 4-like protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ribonucleotide reductase, class I , alpha subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonucleotide reductase, class I , alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Peptide methionine sulphoxide reductase MsrA Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Peptide methionine sulphoxide reductase MsrA protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Succinate dehydrogenase/fumarate reductase, flavoprotein subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Succinate dehydrogenase/fumarate reductase, flavoprotein subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Gamma-glutamyl phosphate reductase GPR, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-glutamyl phosphate reductase GPR, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
IMP dehydrogenase/GMP reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the IMP dehydrogenase/GMP reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Succinate dehydogenase/fumarate reductase N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Succinate dehydogenase/fumarate reductase N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pyrroline-5-carboxylate reductase, dimerisation domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyrroline-5-carboxylate reductase, dimerisation domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ribonucleotide reductase small subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonucleotide reductase small subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ribonucleotide reductase large subunit, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonucleotide reductase large subunit, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Dehydrogenase/reductase SDR member 2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Dehydrogenase/reductase SDR member 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Aldo/keto reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Aldo/keto reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ubiquinol-cytochrome c reductase, iron-sulphur subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquinol-cytochrome c reductase, iron-sulphur subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
FAD/NAD-linked reductase, dimerisation domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the FAD/NAD-linked reductase, dimerisation domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Succinate dehydrogenase/fumarate reductase iron-sulphur protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Succinate dehydrogenase/fumarate reductase iron-sulphur protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Fumarate reductase/succinate dehydrogenase, FAD-binding site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Fumarate reductase/succinate dehydrogenase, FAD-binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Aldo/keto reductase subgroup Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Aldo/keto reductase subgroup protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
NADH:cytochrome b5 reductase (CBR) Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:cytochrome b5 reductase (CBR) protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Eukaryotic-type methylenetetrahydrofolate reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Eukaryotic-type methylenetetrahydrofolate reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Peptide methionine sulphoxide reductase MrsB Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Peptide methionine sulphoxide reductase MrsB protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Cytochrome cd1-nitrite reductase-like, haem d1 domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome cd1-nitrite reductase-like, haem d1 domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
IMP dehydrogenase / GMP reductase, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the IMP dehydrogenase / GMP reductase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Hydroxymethylglutaryl-CoA reductase, metazoan Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Hydroxymethylglutaryl-CoA reductase, metazoan protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Hydroxymethylglutaryl-CoA reductase, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Hydroxymethylglutaryl-CoA reductase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Short-chain dehydrogenase/reductase, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Short-chain dehydrogenase/reductase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pyrroline-5-carboxylate reductase, catalytic, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyrroline-5-carboxylate reductase, catalytic, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Vitamin K epoxide reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Vitamin K epoxide reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ferredoxin reductase-type FAD-binding domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ferredoxin reductase-type FAD-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Aldo/keto reductase, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Aldo/keto reductase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ferric reductase transmembrane component-like domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ferric reductase transmembrane component-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Phosphoadenosine phosphosulphate reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Phosphoadenosine phosphosulphate reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutathione reductase, eukaryote/bacterial Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione reductase, eukaryote/bacterial protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Short-chain dehydrogenase/reductase SDR Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Short-chain dehydrogenase/reductase SDR protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Peptide methionine sulfoxide reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Peptide methionine sulfoxide reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Sterol reductase, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Sterol reductase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Fatty acyl-CoA reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Fatty acyl-CoA reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leukotriene B4 12-hydroxydehydrogenase/15-oxo-prostaglandin 13-reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leukotriene B4 12-hydroxydehydrogenase/15-oxo-prostaglandin 13-reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Nitrous oxide reductase, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Nitrous oxide reductase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Dihydrofolate reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Dihydrofolate reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Dihydrofolate reductase conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Dihydrofolate reductase conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Phenol hydroxylase reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Phenol hydroxylase reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Reductase, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Reductase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Hydroxymethylglutaryl-CoA reductase, class I/II Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Hydroxymethylglutaryl-CoA reductase, class I/II protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ubiquinol-cytochrome c reductase 8kDa, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquinol-cytochrome c reductase 8kDa, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ribonucleotide reductase large subunit, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonucleotide reductase large subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
peroxisomal fatty acyl-coa reductase 1 disorder Gene SetFrom OMIM Gene-Disease Associations genes associated with the peroxisomal fatty acyl-coa reductase 1 disorder phenotype from the curated OMIM Gene-Disease Associations dataset. |
Methylenetetrahydrofolate Reductase Gene Mutation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Methylenetetrahydrofolate Reductase Gene Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Methylenetetrahydrofolate Reductase Polymorphism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Methylenetetrahydrofolate Reductase Polymorphism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
positive regulation of pyrroline-5-carboxylate reductase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of pyrroline-5-carboxylate reductase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of pyrroline-5-carboxylate reductase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of pyrroline-5-carboxylate reductase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
nitrite reductase (NO-forming) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the nitrite reductase (NO-forming) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
aldo-keto reductase (NADP) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the aldo-keto reductase (NADP) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
carbonyl reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the carbonyl reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
delta14-sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the delta14-sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
NADPH:quinone reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the NADPH:quinone reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
protein-disulfide reductase (glutathione) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the protein-disulfide reductase (glutathione) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
dihydrofolate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the dihydrofolate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
cytochrome-b5 reductase activity, acting on NAD(P)H Gene SetFrom GO Molecular Function Annotations 2023 genes performing the cytochrome-b5 reductase activity, acting on NAD(P)H molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
protein-disulfide reductase (NAD(P)) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the protein-disulfide reductase (NAD(P)) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
hydroxymethylglutaryl-CoA reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the hydroxymethylglutaryl-CoA reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
nitroglycerin reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the nitroglycerin reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ubiquinol-cytochrome-c reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ubiquinol-cytochrome-c reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
6,7-dihydropteridine reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 6,7-dihydropteridine reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
L-glucuronate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-glucuronate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glucuronolactone reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glucuronolactone reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
dihydronicotinamide riboside quinone reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the dihydronicotinamide riboside quinone reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
prostaglandin-E2 9-reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the prostaglandin-E2 9-reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
NADPH-hemoprotein reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the NADPH-hemoprotein reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
chlordecone reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the chlordecone reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ferredoxin-NADP+ reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ferredoxin-NADP+ reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ribonucleoside-diphosphate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ribonucleoside-diphosphate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
biliverdin reductase (NAD(P)+) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the biliverdin reductase (NAD(P)+) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
riboflavin reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the riboflavin reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
alkyl hydroperoxide reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the alkyl hydroperoxide reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
sterol 5-alpha reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the sterol 5-alpha reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
pyrroline-5-carboxylate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the pyrroline-5-carboxylate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
GMP reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the GMP reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
prostaglandin H2 endoperoxidase reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the prostaglandin H2 endoperoxidase reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
delta4-3-oxosteroid 5beta-reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the delta4-3-oxosteroid 5beta-reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
methylenetetrahydrofolate reductase (NAD(P)H) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the methylenetetrahydrofolate reductase (NAD(P)H) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
biliberdin reductase NAD+ activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the biliberdin reductase NAD+ activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
3-keto sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 3-keto sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
3-dehydrosphinganine reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 3-dehydrosphinganine reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
GDP-4-dehydro-D-rhamnose reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the GDP-4-dehydro-D-rhamnose reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
2-alkenal reductase (NADP+) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 2-alkenal reductase (NADP+) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
13-prostaglandin reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 13-prostaglandin reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
13-lipoxin reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 13-lipoxin reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
delta24(24-1) sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the delta24(24-1) sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
delta24-sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the delta24-sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
2,4-dienoyl-CoA reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 2,4-dienoyl-CoA reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
long-chain-fatty-acyl-CoA reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the long-chain-fatty-acyl-CoA reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
nitrate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the nitrate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
nitrite reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the nitrite reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ferric-chelate reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ferric-chelate reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
acylglycerone-phosphate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the acylglycerone-phosphate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
all-trans-retinol 13,14-reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the all-trans-retinol 13,14-reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
17-beta-ketosteroid reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 17-beta-ketosteroid reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
L-xylulose reductase (NADP+) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-xylulose reductase (NADP+) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
folate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the folate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
peptide-methionine (R)-S-oxide reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the peptide-methionine (R)-S-oxide reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
vitamin-K-epoxide reductase (warfarin-sensitive) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the vitamin-K-epoxide reductase (warfarin-sensitive) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
alcohol-forming very long-chain fatty acyl-CoA reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the alcohol-forming very long-chain fatty acyl-CoA reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
vitamin-K-epoxide reductase (warfarin-insensitive) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the vitamin-K-epoxide reductase (warfarin-insensitive) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
trans-2-enoyl-CoA reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the trans-2-enoyl-CoA reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
arsenate reductase (glutaredoxin) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the arsenate reductase (glutaredoxin) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
very-long-chain enoyl-CoA reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the very-long-chain enoyl-CoA reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
[methionine synthase] reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the [methionine synthase] reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
7-dehydrocholesterol reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 7-dehydrocholesterol reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
hydroxypyruvate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the hydroxypyruvate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glyoxylate reductase (NADP+) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glyoxylate reductase (NADP+) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
peptide-methionine (S)-S-oxide reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the peptide-methionine (S)-S-oxide reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
cyanocobalamin reductase (cyanide-eliminating) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the cyanocobalamin reductase (cyanide-eliminating) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
L-methionine-(S)-S-oxide reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-methionine-(S)-S-oxide reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
cupric reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the cupric reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
methionine-R-sulfoxide reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the methionine-R-sulfoxide reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
sterol delta7 reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the sterol delta7 reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
NADPH-adrenodoxin reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the NADPH-adrenodoxin reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ferredoxin-NAD(P) reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ferredoxin-NAD(P) reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
enone reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the enone reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
2-alkenal reductase [NAD(P)+] activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 2-alkenal reductase [NAD(P)+] activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ferric-chelate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ferric-chelate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glyoxylate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glyoxylate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
nitrite reductase (NO-forming) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the nitrite reductase (NO-forming) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
aldose reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the aldose reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
aldo-keto reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the aldo-keto reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
carbonyl reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the carbonyl reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Delta14-sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the Delta14-sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
NADPH:quinone reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the NADPH:quinone reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
protein-disulfide reductase (glutathione) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the protein-disulfide reductase (glutathione) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
dihydrofolate reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the dihydrofolate reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
cytochrome-b5 reductase activity, acting on NAD(P)H Gene SetFrom GO Molecular Function Annotations 2025 genes performing the cytochrome-b5 reductase activity, acting on NAD(P)H molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
protein-disulfide reductase [NAD(P)H] activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the protein-disulfide reductase [NAD(P)H] activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
nitrite reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the nitrite reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
hydroxymethylglutaryl-CoA reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the hydroxymethylglutaryl-CoA reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
6,7-dihydropteridine reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 6,7-dihydropteridine reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
L-glucuronate reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-glucuronate reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glucuronolactone reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glucuronolactone reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
NADH:ubiquinone reductase (non-electrogenic) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the NADH:ubiquinone reductase (non-electrogenic) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
dihydronicotinamide riboside quinone reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the dihydronicotinamide riboside quinone reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
prostaglandin E2 9-reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the prostaglandin E2 9-reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
NADPH-hemoprotein reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the NADPH-hemoprotein reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
chlordecone reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the chlordecone reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ferredoxin-NADP+ reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ferredoxin-NADP+ reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ribonucleoside-diphosphate reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ribonucleoside-diphosphate reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
biliverdin reductase [NAD(P)+] activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the biliverdin reductase [NAD(P)+] activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
riboflavin reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the riboflavin reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
pyrroline-5-carboxylate reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the pyrroline-5-carboxylate reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
GMP reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the GMP reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
prostaglandin H2 endoperoxidase reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the prostaglandin H2 endoperoxidase reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Delta4-3-oxosteroid 5beta-reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the Delta4-3-oxosteroid 5beta-reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
methylenetetrahydrofolate reductase (NAD(P)H) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the methylenetetrahydrofolate reductase (NAD(P)H) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
biliberdin reductase (NAD+) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the biliberdin reductase (NAD+) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
3-dehydrosphinganine reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 3-dehydrosphinganine reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
GDP-4-dehydro-D-rhamnose reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the GDP-4-dehydro-D-rhamnose reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
2-alkenal reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 2-alkenal reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
13-lipoxin reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 13-lipoxin reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Delta24(24-1) sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the Delta24(24-1) sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Delta24-sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the Delta24-sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
2,4-dienoyl-CoA reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 2,4-dienoyl-CoA reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
very-long-chain 3-oxoacyl-CoA reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the very-long-chain 3-oxoacyl-CoA reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
nitrate reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the nitrate reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ferric-chelate reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ferric-chelate reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
acylglycerone-phosphate reductase (NADP+) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the acylglycerone-phosphate reductase (NADP+) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
all-trans-retinol 13,14-reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the all-trans-retinol 13,14-reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
L-xylulose reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-xylulose reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
folate reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the folate reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
peptide-methionine (R)-S-oxide reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the peptide-methionine (R)-S-oxide reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
vitamin-K-epoxide reductase (warfarin-sensitive) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the vitamin-K-epoxide reductase (warfarin-sensitive) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
dolichal reductase [NAD(P)+] activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the dolichal reductase [NAD(P)+] activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
alcohol-forming long-chain fatty acyl-CoA reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the alcohol-forming long-chain fatty acyl-CoA reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
alcohol-forming very long-chain fatty acyl-CoA reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the alcohol-forming very long-chain fatty acyl-CoA reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
vitamin-K-epoxide reductase (warfarin-insensitive) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the vitamin-K-epoxide reductase (warfarin-insensitive) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
enoyl-[acyl-carrier-protein] reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the enoyl-[acyl-carrier-protein] reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
trans-2-enoyl-CoA reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the trans-2-enoyl-CoA reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
polyprenal reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the polyprenal reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
arsenate reductase (glutaredoxin) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the arsenate reductase (glutaredoxin) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
very-long-chain enoyl-CoA reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the very-long-chain enoyl-CoA reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
[methionine synthase] reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the [methionine synthase] reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
7-dehydrocholesterol reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 7-dehydrocholesterol reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
hydroxypyruvate reductase (NADH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the hydroxypyruvate reductase (NADH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
hydroxypyruvate reductase [NAD(P)H] activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the hydroxypyruvate reductase [NAD(P)H] activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glyoxylate reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glyoxylate reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
peptide-methionine (S)-S-oxide reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the peptide-methionine (S)-S-oxide reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ADP-ribosyl-[dinitrogen reductase] hydrolase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ADP-ribosyl-[dinitrogen reductase] hydrolase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
polyprenol reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the polyprenol reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
cupric reductase (NADH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the cupric reductase (NADH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
L-methionine-(S)-S-oxide reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-methionine-(S)-S-oxide reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ferredoxin-[NAD(P)H] reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ferredoxin-[NAD(P)H] reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
enone reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the enone reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
2-alkenal reductase [NAD(P)+] activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 2-alkenal reductase [NAD(P)+] activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ferric-chelate reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ferric-chelate reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
enoyl-[acyl-carrier-protein] reductase activity (NAD(P)H) Gene SetFrom GO Molecular Function Annotations 2025 genes performing the enoyl-[acyl-carrier-protein] reductase activity (NAD(P)H) molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glyoxylate reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glyoxylate reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ribonucleoside-diphosphate reductase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the ribonucleoside-diphosphate reductase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
ribonucleoside-diphosphate reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the ribonucleoside-diphosphate reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Nitrate reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Nitrate reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
thioredoxin-disulfide reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the thioredoxin-disulfide reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Fumarate reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Fumarate reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
GMP reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the GMP reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
pyrroline-5-carboxylate reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the pyrroline-5-carboxylate reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Methyl coenzyme M reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Methyl coenzyme M reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
trimethylamine-N-oxide reductase (cytochrome c) complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the trimethylamine-N-oxide reductase (cytochrome c) complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Dimethyl sulfoxide reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Dimethyl sulfoxide reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Plasma membrane fumarate reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Plasma membrane fumarate reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
trimethylamine-N-oxide reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the trimethylamine-N-oxide reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Glycine reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Glycine reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
ferredoxin-thioredoxin reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the ferredoxin-thioredoxin reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
CoB-CoM heterodisulfide reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the CoB-CoM heterodisulfide reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Alkyl hydroperoxide reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Alkyl hydroperoxide reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Anaerobic ribonucleoside-triphosphate reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Anaerobic ribonucleoside-triphosphate reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
FMN reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the FMN reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Sulfite reductase complex (NADPH) Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Sulfite reductase complex (NADPH) cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Hmg coa reductase inhibitors response - Toxicity Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hmg coa reductase inhibitors response - Toxicity phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Medication use (HMG CoA reductase inhibitors) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Medication use (HMG CoA reductase inhibitors) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
HMG-COA REDUCTASE INHIBITOR Gene Setinteracting proteins for the HMG-COA REDUCTASE INHIBITOR drug from theDGIdb Drug Targets 2026 dataset. |
Megaloblastic anemia due to inborn errors of metabolism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia due to inborn errors of metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia due to activated protein C resistance Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to activated protein C resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia due to thrombomodulin defect Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to thrombomodulin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency due to defect in cd3-zeta Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to defect in cd3-zeta phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia, X-Linked, Due To Factor Ix Defect Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thrombophilia, X-Linked, Due To Factor Ix Defect from the curated CTD Gene-Disease Associations dataset. |
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type from the curated CTD Gene-Disease Associations dataset. |
METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene SetFrom 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. |
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pseudohyperkalemia, Familial, 2, due to Red Cell Leak from the curated CTD Gene-Disease Associations dataset. |
HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION from the curated CTD Gene-Disease Associations dataset. |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset. |
Thrombophilia Due To Elevated Histidine-Rich Glycoprotein Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thrombophilia Due To Elevated Histidine-Rich Glycoprotein from the curated CTD Gene-Disease Associations dataset. |
Thrombophilia due to Activated Protein C Resistance Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thrombophilia due to Activated Protein C Resistance from the curated CTD Gene-Disease Associations dataset. |
Immunodeficiency due to Defect in CD3-Zeta Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency due to Defect in CD3-Zeta from the curated CTD Gene-Disease Associations dataset. |
Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency due to Defect in MAPBP-Interacting Protein from the curated CTD Gene-Disease Associations dataset. |
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 1 from the curated CTD Gene-Disease Associations dataset. |
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 2 from the curated CTD Gene-Disease Associations dataset. |
thrombocytopenia due to platelet alloimmunization Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease thrombocytopenia due to platelet alloimmunization in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
pneumoconiosis due to talc Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pneumoconiosis due to talc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hereditary spastic paraparesis due to a frame shift mutat Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hereditary spastic paraparesis due to a frame shift mutat in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
depressed suicide; suicide due to depression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease depressed suicide; suicide due to depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
due Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term due in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
anemia due to reduced life span of red cells Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the anemia due to reduced life span of red cells phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
decreased cervical spine flexion due to contractures of posterior cervical muscles Gene SetFrom HPO Gene-Disease Associations genes associated with the decreased cervical spine flexion due to contractures of posterior cervical muscles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
anemia due to reduced life span of red cells Gene SetFrom HPO Gene-Disease Associations genes associated with the anemia due to reduced life span of red cells phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
restricted neck movement due to contractures Gene SetFrom HPO Gene-Disease Associations genes associated with the restricted neck movement due to contractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
chronic rhinitis due to narrow nasal airway Gene SetFrom HPO Gene-Disease Associations genes associated with the chronic rhinitis due to narrow nasal airway phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
osteomyelitis due to immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the osteomyelitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) Gene SetFrom HPO Gene-Disease Associations genes associated with the osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
bowing of limbs due to multiple fractures Gene SetFrom HPO Gene-Disease Associations genes associated with the bowing of limbs due to multiple fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
respiratory insufficiency due to muscle weakness Gene SetFrom HPO Gene-Disease Associations genes associated with the respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
osteomyelitis leading to amputation due to slow healing fractures Gene SetFrom HPO Gene-Disease Associations genes associated with the osteomyelitis leading to amputation due to slow healing fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
weakness due to upper motor neuron dysfunction Gene SetFrom HPO Gene-Disease Associations genes associated with the weakness due to upper motor neuron dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
self-mutilation of tongue and lips due to involuntary movements Gene SetFrom HPO Gene-Disease Associations genes associated with the self-mutilation of tongue and lips due to involuntary movements phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
respiratory insufficiency due to defective ciliary clearance Gene SetFrom HPO Gene-Disease Associations genes associated with the respiratory insufficiency due to defective ciliary clearance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
recurrent infections due to aspiration Gene SetFrom HPO Gene-Disease Associations genes associated with the recurrent infections due to aspiration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
generalized hypotonia due to defect at the neuromuscular junction Gene SetFrom HPO Gene-Disease Associations genes associated with the generalized hypotonia due to defect at the neuromuscular junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
chronic hepatitis due to cryptospridium infection Gene SetFrom HPO Gene-Disease Associations genes associated with the chronic hepatitis due to cryptospridium infection phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
subperiosteal erosions due to secondary hyperparathyroidism Gene SetFrom HPO Gene-Disease Associations genes associated with the subperiosteal erosions due to secondary hyperparathyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
painless fractures due to injury Gene SetFrom HPO Gene-Disease Associations genes associated with the painless fractures due to injury phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hepatic abscesses due to immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the hepatic abscesses due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cellulitis due to immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the cellulitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
decreased sweating due to autonomic dysfunction Gene SetFrom HPO Gene-Disease Associations genes associated with the decreased sweating due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intermittent episodes of respiratory insufficiency due to muscle weakness Gene SetFrom HPO Gene-Disease Associations genes associated with the intermittent episodes of respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
orthostatic hypotension due to autonomic dysfunction Gene SetFrom HPO Gene-Disease Associations genes associated with the orthostatic hypotension due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
{hepatic fibrosis susceptibility due to schistosoma mansoni infection} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hepatic fibrosis susceptibility due to schistosoma mansoni infection} phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to thrombomodulin defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to thrombomodulin defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
bleeding disorder due to p2rx1 defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the bleeding disorder due to p2rx1 defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopahty, lethal, due to defective mitochondrial peroxisomal fission phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypercholesterolemia, due to ligand-defective apo b Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypercholesterolemia, due to ligand-defective apo b phenotype from the curated OMIM Gene-Disease Associations dataset. |
disordered steroidogenesis due to cytochrome p450 oxidoreductase Gene SetFrom OMIM Gene-Disease Associations genes associated with the disordered steroidogenesis due to cytochrome p450 oxidoreductase phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemorrhagic diathesis due to 'antithrombin' pittsburgh Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemorrhagic diathesis due to 'antithrombin' pittsburgh phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
omphalocele due to duplication of 1p31.3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the omphalocele due to duplication of 1p31.3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
gigantism due to ghrf hypersecretion Gene SetFrom OMIM Gene-Disease Associations genes associated with the gigantism due to ghrf hypersecretion phenotype from the curated OMIM Gene-Disease Associations dataset. |
pseudohyperkalemia, familial, 2, due to red cell leak Gene SetFrom OMIM Gene-Disease Associations genes associated with the pseudohyperkalemia, familial, 2, due to red cell leak phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia, familial, due to decreased release of plat Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia, familial, due to decreased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset. |
macrocytic anemia, refractory, due to 5q deletion, somatic Gene SetFrom OMIM Gene-Disease Associations genes associated with the macrocytic anemia, refractory, due to 5q deletion, somatic phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hypercholesterolemia, familial, due to ldlr defect, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hypercholesterolemia, familial, due to ldlr defect, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{drug-induced liver injury due to flucloxacillin} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {drug-induced liver injury due to flucloxacillin} phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to activated protein c resistance Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to activated protein c resistance phenotype from the curated OMIM Gene-Disease Associations dataset. |
?male pseudohermaphroditism due to defective lh Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?male pseudohermaphroditism due to defective lh phenotype from the curated OMIM Gene-Disease Associations dataset. |
hydrocephalus due to aqueductal stenosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the hydrocephalus due to aqueductal stenosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to elevated hrg Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to elevated hrg phenotype from the curated OMIM Gene-Disease Associations dataset. |
thalassemia due to hb lepore Gene SetFrom OMIM Gene-Disease Associations genes associated with the thalassemia due to hb lepore phenotype from the curated OMIM Gene-Disease Associations dataset. |
rickets due to defect in vitamin d 25-hydroxylation Gene SetFrom OMIM Gene-Disease Associations genes associated with the rickets due to defect in vitamin d 25-hydroxylation phenotype from the curated OMIM Gene-Disease Associations dataset. |
methylmalonic aciduria due to transcobalamin receptor defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria due to transcobalamin receptor defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia, x-linked, due to factor ix defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia, x-linked, due to factor ix defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
{thrombophilia, susceptibility to, due to factor v leiden} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {thrombophilia, susceptibility to, due to factor v leiden} phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency due to defect in mapbp-interacting protein Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency due to defect in mapbp-interacting protein phenotype from the curated OMIM Gene-Disease Associations dataset. |
goiter, familial, due to ttf-1 defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the goiter, familial, due to ttf-1 defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to thrombin defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to thrombin defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperfibrinolysis, familial, due to increased release of plat Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperfibrinolysis, familial, due to increased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemosiderosis, systemic, due to aceruloplasminemia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemosiderosis, systemic, due to aceruloplasminemia phenotype from the curated OMIM Gene-Disease Associations dataset. |
Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
Malignant Hyperpyrexia Due To Anesthesia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Malignant Hyperpyrexia Due To Anesthesia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Functional Diarrhoea (Due To Spastic Colon) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Functional Diarrhoea (Due To Spastic Colon) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Peripheral Neuropathy Due To And Following Chemotherapy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Peripheral Neuropathy Due To And Following Chemotherapy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hemolytic Disease Of Fetus Or Newborn Due To Abo Immunization Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hemolytic Disease Of Fetus Or Newborn Due To Abo Immunization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Viral Gastroenteritis Due To Rotavirus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Viral Gastroenteritis Due To Rotavirus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dementia Due To Alzheimer'S Disease (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dementia Due To Alzheimer'S Disease (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |