| Name |
|---|
OPHLC GeneOmphalocele due to duplication of 1p31.3 |
PSHK2 GenePseudohyperkalemia, familial, 2, due to red cell leak |
SM2 GeneHepatic fibrosis susceptibility due to Schistosoma mansoni infection |
TRI-AAT4-1 Genetransfer RNA-Ile (AAT) 4-1 |
TRI-AAT5-2 Genetransfer RNA-Ile (AAT) 5-2 |
TRI-AAT5-3 Genetransfer RNA-Ile (AAT) 5-3 |
TRI-AAT5-1 Genetransfer RNA-Ile (AAT) 5-1 |
TRI-AAT5-4 Genetransfer RNA-Ile (AAT) 5-4 |
TRI-AAT5-5 Genetransfer RNA-Ile (AAT) 5-5 |
TRI-AAT8-1 Genetransfer RNA-Ile (AAT) 8-1 |
TRI-AAT3-1 Genetransfer RNA-Ile (AAT) 3-1 |
TRI-AAT12-1 Genetransfer RNA-Ile (AAT) 12-1 |
TRI-AAT6-1 Genetransfer RNA-Ile (AAT) 6-1 |
TRI-AAT7-1 Genetransfer RNA-Ile (AAT) 7-1 |
TRI-AAT7-2 Genetransfer RNA-Ile (AAT) 7-2 |
TRI-AAT11-1 Genetransfer RNA-Ile (AAT) 11-1 |
TRI-AAT10-1 Genetransfer RNA-Ile (AAT) 10-1 |
TRI-AAT2-1 Genetransfer RNA-Ile (AAT) 2-1 |
TRI-AAT9-1 Genetransfer RNA-Ile (AAT) 9-1 |
TRI-AAT1-1 Genetransfer RNA-Ile (AAT) 1-1 |
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. |
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. |
aat Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term aat in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive; pulmonary emphysema Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive; pulmonary emphysema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; emphysema Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; emphysema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations 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. |
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. |
Emphysema Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Emphysema from the curated CTD Gene-Disease Associations dataset. |
Pulmonary Emphysema Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pulmonary Emphysema from the curated CTD Gene-Disease Associations dataset. |
Emphysema Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Emphysema in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
pulmonary emphysema Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease pulmonary emphysema in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
compensatory emphysema Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease compensatory emphysema in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
interstitial emphysema Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease interstitial emphysema in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
pulmonary emphysema Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pulmonary emphysema in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
asthma; pulmonary disease, chronic obstructive; pulmonary emphysema Gene SetFrom GAD Gene-Disease Associations genes associated with the disease asthma; pulmonary disease, chronic obstructive; pulmonary emphysema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lung cancer; asthma; emphysema; bronchitis; pneumonia; hay fever Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lung cancer; asthma; emphysema; bronchitis; pneumonia; hay fever in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pulmonary emphysema Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pulmonary emphysema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
emphysema; pulmonary disease, chronic obstructive; substance-related disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease emphysema; pulmonary disease, chronic obstructive; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchiectasis; bronchitis; bronchitis unspecified; emphysema; lung diseases, obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchiectasis; bronchitis; bronchitis unspecified; emphysema; lung diseases, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
asthma; emphysema Gene SetFrom GAD Gene-Disease Associations genes associated with the disease asthma; emphysema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
emphysema; pulmonary disease, chronic obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease emphysema; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
emphysema Gene SetFrom GAD Gene-Disease Associations genes associated with the disease emphysema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pulmonary disease, chronic obstructive; pulmonary emphysema Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pulmonary disease, chronic obstructive; pulmonary emphysema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic obstructive pulmonary disease/copd; emphysema Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic obstructive pulmonary disease/copd; emphysema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
emphysema Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term emphysema in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Emphysema-related traits Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Emphysema-related traits phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
pulmonary emphysema Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease pulmonary emphysema in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
emphysema Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the emphysema phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
emphysema Gene SetFrom HPO Gene-Disease Associations genes associated with the emphysema phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Emphysema Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Emphysema phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Pulmonary Emphysema Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Pulmonary Emphysema phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
emphysema Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the emphysema phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
pulmonary emphysema Gene SetFrom PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease pulmonary emphysema from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset. |
Pulmonary Emphysema Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pulmonary Emphysema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Emphysema Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Emphysema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Combined Pulmonary Fibrosis And Emphysema Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Combined Pulmonary Fibrosis And Emphysema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Centriacinar Emphysema Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Centriacinar Emphysema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Focal Emphysema Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Emphysema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Panacinar Emphysema Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Panacinar Emphysema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Emphysema Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Emphysema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Emphysema Or Copd Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Emphysema Or Copd in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Obstructive Emphysema Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Obstructive Emphysema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Other Emphysema Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Other Emphysema in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Mediastinal Emphysema Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mediastinal Emphysema in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Paraseptal Emphysema Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Paraseptal Emphysema in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
emphysema Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the emphysema phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Pulmonary emphysema Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Pulmonary emphysema in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Pulmonary emphysema Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Pulmonary emphysema in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Pulmonary interstitial emphysema Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Pulmonary interstitial emphysema in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Compensatory emphysema Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Compensatory emphysema in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Emphysema imaging phenotypes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Emphysema imaging phenotypes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Emphysema distribution in smoking Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Emphysema distribution in smoking phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Emphysema annual change measurement in smokers (adjusted lung density) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Emphysema annual change measurement in smokers (adjusted lung density) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Emphysema annual change measurement in smokers (percent low attenuation area) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Emphysema annual change measurement in smokers (percent low attenuation area) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pulmonary emphysema Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pulmonary emphysema phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Local histogram emphysema pattern Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Local histogram emphysema pattern phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Emphysema-related traits Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Emphysema-related traits phenotype in GWAS datasets from the GWAS Catalog SNP-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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
Dopa-responsive dystonia due to sepiapterin reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Dopa-responsive dystonia due to sepiapterin reductase 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. |
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. |
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. |
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. |
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. |
methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type Gene SetFrom OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type phenotype from the curated OMIM Gene-Disease Associations dataset. |
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. |
Whooping Cough Due To Unspecified Organism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Whooping Cough Due To Unspecified Organism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Osteopenia Due To Disuse Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Osteopenia Due To Disuse in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Disease Due To Parvoviridae Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Disease Due To Parvoviridae in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Respiratory Disease Due To Mycoplasma Gallisepticum Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Respiratory Disease Due To Mycoplasma Gallisepticum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary Adenocarcinoma Of Lower Third Of Esophagus Due To Barrett Esophagus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Adenocarcinoma Of Lower Third Of Esophagus Due To Barrett Esophagus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Addison'S Disease Due To Autoimmunity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Addison'S Disease Due To Autoimmunity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Eye Disorder Due To Diabetes Mellitus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Eye Disorder Due To Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ketoacidosis Due To Acute Alcohol Intoxication Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ketoacidosis Due To Acute Alcohol Intoxication in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Human Anaplasmosis Due To Anaplasma Phagocytophilum Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Human Anaplasmosis Due To Anaplasma Phagocytophilum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
End Stage Renal Disease Due To Hypertension Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease End Stage Renal Disease Due To Hypertension in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Male Infertility With Teratozoospermia Due To Single Gene Mutation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Male Infertility With Teratozoospermia Due To Single Gene Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hydrops Fetalis Due To Alpha Thalassemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hydrops Fetalis Due To Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Disease Due To Acanthocephala Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Disease Due To Acanthocephala in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fast Acetylator Due To N-Acetyltransferase Enzyme Variant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fast Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Disease Due To Neisseria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Disease Due To Neisseria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Osteomyelitis Due To Staphylococcus Aureus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Osteomyelitis Due To Staphylococcus Aureus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Hepatitis Due To Cryptosporidium Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Hepatitis Due To Cryptosporidium Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hemosiderosis, Systemic, Due To Aceruloplasminemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hemosiderosis, Systemic, Due To Aceruloplasminemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infection Due To Brucella Suis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infection Due To Brucella Suis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Slow Acetylator Due To N-Acetyltransferase Enzyme Variant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Slow Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Recurrent Infections Due To Aspiration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Recurrent Infections Due To Aspiration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Duodenal Obstruction Due To Malrotation Of Intestine Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Duodenal Obstruction Due To Malrotation Of Intestine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infection Due To Mycobacterium Kansasii Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infection Due To Mycobacterium Kansasii in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hydronephrosis Due To Pujo Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hydronephrosis Due To Pujo in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Thyrotoxicosis Due To Pituitary Thyroid Hormone Resistance Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Thyrotoxicosis Due To Pituitary Thyroid Hormone Resistance in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Disseminated Due To Other Mycobacteria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Disseminated Due To Other Mycobacteria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Diabetes (Mellitus) Due To Autoimmune Process Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Diabetes (Mellitus) Due To Autoimmune Process in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Diabetes (Mellitus) Due To Immune Mediated Pancreatic Islet Beta-Cell Destruction Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Diabetes (Mellitus) Due To Immune Mediated Pancreatic Islet Beta-Cell Destruction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Scoliosis Due To Bony Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Scoliosis Due To Bony Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infection Due To Vancomycin Resistant Staphylococcus Aureus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infection Due To Vancomycin Resistant Staphylococcus Aureus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Renal Failure Due To Ischemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Renal Failure Due To Ischemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dementia Due To Parkinson'S Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dementia Due To Parkinson'S Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Urticaria Due To Cold And Heat Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Urticaria Due To Cold And Heat in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Urticaria Due To Cold Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Urticaria Due To Cold in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Bronchitis Due To Respiratory Syncytial Virus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Bronchitis Due To Respiratory Syncytial Virus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Irritant Contact Dermatitis Due To Incontinence Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Irritant Contact Dermatitis Due To Incontinence in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hemolytic Disease Of Fetus Or Newborn Due To Rhd Isoimmunization Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hemolytic Disease Of Fetus Or Newborn Due To Rhd Isoimmunization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dermatophilosis Due To Dermatophilus Congolensis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dermatophilosis Due To Dermatophilus Congolensis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Perinatal Jaundice Due To Inspissated Bile Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Perinatal Jaundice Due To Inspissated Bile Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infection Due To Clostridium Chauvoei Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infection Due To Clostridium Chauvoei in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Rhinitis Due To Narrow Nasal Airway Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Rhinitis Due To Narrow Nasal Airway in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycythemia Due To Erythropoietin Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Erythropoietin in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycythemia Due To Excess Erythopoetin Production Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Excess Erythopoetin Production in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycythemia Due To Fall In Plasma Volume Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Fall In Plasma Volume in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycythemia Due To High Altitude Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To High Altitude in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycythemia Due To Stress Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Stress in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Distal Muscle Atrophy Due To Neurologic Disease Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Distal Muscle Atrophy Due To Neurologic Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Respiratory Insufficiency Due To Muscle Weakness Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Respiratory Insufficiency Due To Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Intermittent Episodes Of Respiratory Insufficiency Due To Muscle Weakness Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Intermittent Episodes Of Respiratory Insufficiency Due To Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Respiratory Insufficiency Due To Defective Ciliary Clearance Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Respiratory Insufficiency Due To Defective Ciliary Clearance in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Orthostatic Hypotension Due To Autonomic Dysfunction Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Orthostatic Hypotension Due To Autonomic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Osteomyelitis Leading To Amputation Due To Slow Healing Fractures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Osteomyelitis Leading To Amputation Due To Slow Healing Fractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Chromosomal Mosaicism Due To Mitotic Instability Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Chromosomal Mosaicism Due To Mitotic Instability in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Weakness Due To Upper Motor Neuron Dysfunction Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Weakness Due To Upper Motor Neuron Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Cephalhematoma Due To Birth Trauma Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cephalhematoma Due To Birth Trauma in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Generalized Hypotonia Due To Defect At The Neuromuscular Junction Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Hypotonia Due To Defect At The Neuromuscular Junction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Bowing Of Limbs Due To Multiple Fractures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Bowing Of Limbs Due To Multiple Fractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Restricted Neck Movement Due To Contractures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Restricted Neck Movement Due To Contractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Decreased Cervical Spine Flexion Due To Contractures Of Posterior Cervical Muscles Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Decreased Cervical Spine Flexion Due To Contractures Of Posterior Cervical Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Painless Fractures Due To Injury Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Painless Fractures Due To Injury in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Decreased Sweating Due To Autonomic Dysfunction Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Decreased Sweating Due To Autonomic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Acanthocytosis Due To Band 3 Ht Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Acanthocytosis Due To Band 3 Ht in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Self-Mutilation Of Tongue And Lips Due To Involuntary Movements Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Self-Mutilation Of Tongue And Lips Due To Involuntary Movements in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Apoptosis related network due to altered Notch3 in ovarian cancer Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Apoptosis related network due to altered Notch3 in ovarian cancer pathway from the WikiPathways Pathways 2024 dataset. |
Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects Gene Setproteins participating in the Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset. |
Aberrant regulation of mitotic cell cycle due to RB1 defects Gene Setproteins participating in the Aberrant regulation of mitotic cell cycle due to RB1 defects pathway from the Reactome Pathways 2024 dataset. |
Aberrant regulation of mitotic exit in cancer due to RB1 defects Gene Setproteins participating in the Aberrant regulation of mitotic exit in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset. |
Defective DNA double strand break response due to BARD1 loss of function Gene Setproteins participating in the Defective DNA double strand break response due to BARD1 loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective DNA double strand break response due to BRCA1 loss of function Gene Setproteins participating in the Defective DNA double strand break response due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Gene Setproteins participating in the Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function pathway from the Reactome Pathways 2024 dataset. |
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function Gene Setproteins participating in the Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function pathway from the Reactome Pathways 2024 dataset. |
Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations Gene Setproteins participating in the Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations pathway from the Reactome Pathways 2024 dataset. |
Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations Gene Setproteins participating in the Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations pathway from the Reactome Pathways 2024 dataset. |
Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function Gene Setproteins participating in the Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function pathway from the Reactome Pathways 2024 dataset. |
Defective homologous recombination repair (HRR) due to BRCA1 loss of function Gene Setproteins participating in the Defective homologous recombination repair (HRR) due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective homologous recombination repair (HRR) due to BRCA2 loss of function Gene Setproteins participating in the Defective homologous recombination repair (HRR) due to BRCA2 loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective homologous recombination repair (HRR) due to PALB2 loss of function Gene Setproteins participating in the Defective homologous recombination repair (HRR) due to PALB2 loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective visual phototransduction due to ABCA4 loss of function Gene Setproteins participating in the Defective visual phototransduction due to ABCA4 loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective visual phototransduction due to LRAT loss of function Gene Setproteins participating in the Defective visual phototransduction due to LRAT loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective visual phototransduction due to OPN1LW loss of function Gene Setproteins participating in the Defective visual phototransduction due to OPN1LW loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective visual phototransduction due to OPN1MW loss of function Gene Setproteins participating in the Defective visual phototransduction due to OPN1MW loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective visual phototransduction due to OPN1SW loss of function Gene Setproteins participating in the Defective visual phototransduction due to OPN1SW loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective visual phototransduction due to RDH12 loss of function Gene Setproteins participating in the Defective visual phototransduction due to RDH12 loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective visual phototransduction due to RDH5 loss of function Gene Setproteins participating in the Defective visual phototransduction due to RDH5 loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective visual phototransduction due to STRA6 loss of function Gene Setproteins participating in the Defective visual phototransduction due to STRA6 loss of function pathway from the Reactome Pathways 2024 dataset. |
Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 Gene Setproteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 pathway from the Reactome Pathways 2024 dataset. |
Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Setproteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset. |
Evasion of Oncogene Induced Senescence Due to p14ARF Defects Gene Setproteins participating in the Evasion of Oncogene Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset. |
Evasion of Oncogene Induced Senescence Due to p16INK4A Defects Gene Setproteins participating in the Evasion of Oncogene Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset. |
Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 Gene Setproteins participating in the Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 pathway from the Reactome Pathways 2024 dataset. |
Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Setproteins participating in the Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset. |
Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects Gene Setproteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset. |
Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects Gene Setproteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset. |
Loss of function of TP53 in cancer due to loss of tetramerization ability Gene Setproteins participating in the Loss of function of TP53 in cancer due to loss of tetramerization ability pathway from the Reactome Pathways 2024 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital encephalopathy due to MECP2 mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Male infertility due to globozoospermia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Male infertility due to globozoospermia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital muscular dystrophy due to LMNA mutation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital muscular dystrophy due to LMNA mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Male infertility due to globozoospermia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Male infertility due to globozoospermia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Male infertility due to acephalic spermatozoa Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Male infertility due to acephalic spermatozoa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Thrombocytopenia due to platelet alloimmunization Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 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 2025 dataset. |
Polyneuropathy due to drug Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Polyneuropathy due to drug in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital muscular dystrophy due to LMNA mutation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy due to LMNA mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Encephalopathy due to defective mitochondrial and peroxisomal fission 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Encephalopathy due to defective mitochondrial and peroxisomal fission 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Thrombophilia due to activated protein C resistance Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to activated protein C resistance in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Thrombophilia due to thrombin defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to thrombin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multiple epiphyseal dysplasia due to collagen 9 anomaly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multiple epiphyseal dysplasia due to collagen 9 anomaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital encephalopathy due to MECP2 mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked thrombophilia due to factor IX defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked thrombophilia due to factor IX defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Thrombophilia due to thrombomodulin defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to thrombomodulin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Thrombophilia due to activated protein C resistance Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to activated protein C resistance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Thrombophilia due to thrombin defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to thrombin defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hepatoencephalopathy due to combined oxidative phosphorylation defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hepatoencephalopathy due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rubinstein-Taybi syndrome due to EP300 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Fatal mitochondrial disease due to combined oxidative phosphorylation defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fatal mitochondrial disease due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial hyperthyroidism due to mutations in TSH receptor Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial hyperthyroidism due to mutations in TSH receptor phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hypothyroidism due to TSH receptor mutations Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypothyroidism due to TSH receptor mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lissencephaly due to TUBA1A mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lissencephaly due to TUBA1A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Peroxisome biogenesis disorder due to PEX1 defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Peroxisome biogenesis disorder due to PEX1 defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Alagille syndrome due to a JAG1 point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Alagille syndrome due to a JAG1 point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lissencephaly due to LIS1 mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lissencephaly due to LIS1 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital lipoid adrenal hyperplasia due to STAR deficency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital lipoid adrenal hyperplasia due to STAR deficency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rubinstein-Taybi syndrome due to CREBBP mutations Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rubinstein-Taybi syndrome due to CREBBP mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hydrocephalus due to aqueductal stenosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hydrocephalus due to aqueductal stenosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lissencephaly due to doublecortin gene mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lissencephaly due to doublecortin gene mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital muscular dystrophy due to LMNA mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to LMNA mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary familial polycythemia due to EPO receptor mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary familial polycythemia due to EPO receptor mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Growth delay due to insulin-like growth factor I resistance Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth delay due to insulin-like growth factor I resistance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature due to growth hormone qualitative anomaly Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to growth hormone qualitative anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to SLC37A4 mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to SLC37A4 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metabolic myopathy due to lactate transporter defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metabolic myopathy due to lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Alagille syndrome due to a NOTCH2 point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Alagille syndrome due to a NOTCH2 point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Methylmalonic acidemia due to transcobalamin receptor defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic acidemia due to transcobalamin receptor defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neurofibromatosis due to NF1 mutation or intragenic deletion Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neurofibromatosis due to NF1 mutation or intragenic deletion phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
DeSanto-Shinawi syndrome due to WAC point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the DeSanto-Shinawi syndrome due to WAC point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Immunodeficiency due to defect in CD3-gamma Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to defect in CD3-gamma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to erythrocyte adenosine deaminase overproduction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Encephalopathy due to defective mitochondrial and peroxisomal fission Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalopathy due to defective mitochondrial and peroxisomal fission phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Beckwith-Wiedemann syndrome due to CDKN1C mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Beckwith-Wiedemann syndrome due to CDKN1C mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myopathy due to calsequestrin and SERCA1 protein overload Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy due to calsequestrin and SERCA1 protein overload phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SIN3A-related intellectual disability syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SIN3A-related intellectual disability syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lactic aciduria due to D-lactic acid Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lactic aciduria due to D-lactic acid phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Kleefstra syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Kleefstra syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pancytopenia due to IKZF1 mutations Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pancytopenia due to IKZF1 mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hao-Fountain syndrome due to USP7 mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hao-Fountain syndrome due to USP7 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive retinal dystrophy due to retinol transport defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive retinal dystrophy due to retinol transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary thrombophilia due to congenital histidine-rich Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombophilia due to congenital histidine-rich phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Juvenile arthritis due to defect in LA Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Juvenile arthritis due to defect in LA phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked acrogigantism due to Xq26 microduplication Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked acrogigantism due to Xq26 microduplication phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Male infertility due to gonadal dysgenesis or sperm disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Male infertility due to gonadal dysgenesis or sperm disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Female infertility due to zona pellucida defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Female infertility due to zona pellucida defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Trifunctional protein deficiency with myopathy and neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bifunctional peroxisomal enzyme deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bifunctional peroxisomal enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked ichthyosis with steryl-sulfatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked ichthyosis with steryl-sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Phosphoglycerate dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Phosphoglycerate dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Galactosylceramide beta-galactosidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Galactosylceramide beta-galactosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Isolated 17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isolated 17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Endplate acetylcholinesterase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Endplate acetylcholinesterase deficiency phenotype from the curated ClinVar Gene-Phenotype 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. |
Methionine adenosyltransferase deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of ribose-5-phosphate isomerase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of ribose-5-phosphate isomerase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kininogen deficiency, total Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kininogen deficiency, total phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
6-pyruvoyl-tetrahydropterin synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 6-pyruvoyl-tetrahydropterin synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
N-terminal acetyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the N-terminal acetyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Creatine deficiency, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Creatine deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Birbeck granule deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Birbeck granule deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Properdin deficiency, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Properdin deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PROPERDIN DEFICIENCY, TYPE II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PROPERDIN DEFICIENCY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement factor d deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement factor d deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methylmalonyl-CoA epimerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 8 deficiency type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 8 deficiency type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Testosterone 17-beta-dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Testosterone 17-beta-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acyl-CoA dehydrogenase family, member 9, deficiency of Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acyl-CoA dehydrogenase family, member 9, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of 2-methylbutyryl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of 2-methylbutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of isobutyryl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of isobutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral folate deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral folate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Phosphoserine aminotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Phosphoserine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine acylcarnitine translocase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine acylcarnitine translocase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Partial hypoxanthine-guanine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Succinyl-CoA acetoacetate transferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Succinyl-CoA acetoacetate transferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine palmitoyltransferase I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine palmitoyltransferase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Platelet-activating factor acetylhydrolase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet-activating factor acetylhydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary C1 esterase inhibitor deficiency - dysfunctional factor phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lipase deficiency combined Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lipase deficiency combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
5-Oxoprolinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 5-Oxoprolinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency with achalasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency with achalasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proopiomelanocortin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proopiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Intrinsic factor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Intrinsic factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
21-hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutaryl-CoA oxidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutaryl-CoA oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corticosterone methyloxidase type 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corticosterone methyloxidase type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thiopurine methyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thiopurine methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHYLCOBALAMIN DEFICIENCY, cblG TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine palmitoyltransferase II deficiency, infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine palmitoyltransferase II deficiency, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lactate dehydrogenase b deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lactate dehydrogenase b deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of 3-hydroxyacyl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Plasminogen deficiency, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Plasminogen deficiency, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Molybdenum cofactor deficiency, complementation group C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Molybdenum cofactor deficiency, complementation group C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Molybdenum cofactor deficiency, complementation group B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Molybdenum cofactor deficiency, complementation group B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Molybdenum cofactor deficiency, complementation group A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Molybdenum cofactor deficiency, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Biotinidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Biotinidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant isolated somatotropin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant isolated somatotropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypohidrotic ectodermal dysplasia with immune deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypohidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of phosphoserine phosphatase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of phosphoserine phosphatase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Isolated growth hormone deficiency type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isolated growth hormone deficiency type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of butyryl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of butyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anhidrotic ectodermal dysplasia with immune deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anhidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3 Methylcrotonyl-CoA carboxylase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3 Methylcrotonyl-CoA carboxylase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of hyaluronoglucosaminidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of hyaluronoglucosaminidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sulfite oxidase deficiency, isolated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sulfite oxidase deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Plasminogen activator inhibitor type 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Plasminogen activator inhibitor type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase phosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 22 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 20 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Monoamine oxidase A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Monoamine oxidase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor V deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor V deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenine phosphoribosyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutamate formiminotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutamate formiminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypoglycemia with deficiency of glycogen synthetase in the liver Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypoglycemia with deficiency of glycogen synthetase in the liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LEUKOCYTE ADHESION DEFICIENCY, TYPE III Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LEUKOCYTE ADHESION DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Follicle-stimulating hormone deficiency, isolated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Follicle-stimulating hormone deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ganglioside sialidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ganglioside sialidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C1q deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the C1q deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Interferon gamma receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Interferon gamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Platelet glycoprotein IV deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet glycoprotein IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
N-acetylaspartate deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the N-acetylaspartate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenylosuccinate lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenylosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Triosephosphate isomerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Triosephosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aromatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aromatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor II deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor II deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex III deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor xiii, a subunit, deficiency of Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor xiii, a subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex III deficiency, nuclear type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex III deficiency, nuclear type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex III deficiency, nuclear type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex III deficiency, nuclear type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylcrotonyl CoA carboxylase 2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylcrotonyl CoA carboxylase 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple sulfatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corticosteroid-binding globulin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corticosteroid-binding globulin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corticosterone methyloxidase type 2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corticosterone methyloxidase type 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 9 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Holocarboxylase synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Holocarboxylase synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype 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. |
LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LIPOPROTEIN(a) DEFICIENCY, CONGENITAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of glycerate kinase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of glycerate kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia with vitamin E deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia with vitamin E deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of galactokinase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of galactokinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ACTH deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ACTH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PROPERDIN DEFICIENCY, TYPE III Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PROPERDIN DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carboxylesterase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carboxylesterase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Purine-nucleoside phosphorylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neonatal intrahepatic cholestasis caused by citrin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neonatal intrahepatic cholestasis caused by citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 6 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Antithrombin III deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Antithrombin III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inosine triphosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inosine triphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth hormone deficiency with pituitary anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth hormone deficiency with pituitary anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulna and fibula absence of with severe limb deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte 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. |
Sarcosine dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sarcosine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor v and factor viii, combined deficiency of, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branched-chain ketoacid dehydrogenase kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branched-chain ketoacid dehydrogenase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
L-ferritin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the L-ferritin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Medium-chain acyl-coenzyme A dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Medium-chain acyl-coenzyme A dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arginase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arginase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hepatic lipase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hepatic lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E3-binding protein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E3-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor IX deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor IX deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha-fetoprotein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha-fetoprotein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vitamin k-dependent clotting factors, combined deficiency of, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of iodide peroxidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of iodide peroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycosylphosphatidylinositol deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vitamin k-dependent clotting factors, combined deficiency of, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukocyte adhesion deficiency type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukocyte adhesion deficiency type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital lactase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital lactase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Caspase-8 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Caspase-8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Phosphoglycerate kinase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anaphylotoxin inactivator deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anaphylotoxin inactivator deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cytochrome-c oxidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cytochrome-c oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Enterokinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Enterokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Erythrocyte amp deaminase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythrocyte amp deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor VII deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor VII deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Apolipoprotein a-i deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Apolipoprotein a-i deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glut1 deficiency syndrome 1, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gamma-aminobutyric acid transaminase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamma-aminobutyric acid transaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myeloperoxidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myeloperoxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial phosphate carrier deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial phosphate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor XI deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor XI deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Porphobilinogen synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Porphobilinogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Very long chain acyl-CoA dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Very long chain acyl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
IRAK4 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the IRAK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukocyte adhesion deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukocyte adhesion deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 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. |
Arginine:glycine amidinotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arginine:glycine amidinotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methionine adenosyltransferase deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methionine adenosyltransferase deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Muscle AMP deaminase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Muscle AMP deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dihydropyrimidinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dihydropyrimidinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dimethylglycine dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dimethylglycine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of hydroxymethylglutaryl-CoA lyase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of hydroxymethylglutaryl-CoA lyase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Monocyte and dendritic cell deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E1-alpha deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E1-alpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Isovaleryl-CoA dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isovaleryl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cd59 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cd59 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ornithine aminotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ornithine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sphingolipid activator protein 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sphingolipid activator protein 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of ferroxidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of ferroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of steroid 11-beta-monooxygenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of steroid 11-beta-monooxygenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lysosomal acid lipase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lysosomal acid lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dopamine beta hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dopamine beta hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Butyrylcholinesterase deficiency, fluoride-resistant, japanese type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Butyrylcholinesterase deficiency, fluoride-resistant, japanese type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
UDPglucose-4-epimerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the UDPglucose-4-epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of alpha-mannosidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of alpha-mannosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Insulin-like growth factor I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Insulin-like growth factor I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate carboxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gluthathione synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gluthathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fumarase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fumarase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of transaldolase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of transaldolase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial pyruvate carrier deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial pyruvate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E1-beta deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E1-beta deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MASP2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MASP2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Argininosuccinate lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Argininosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prekallikrein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prekallikrein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chitotriosidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chitotriosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anti-plasmin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anti-plasmin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prothrombin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prothrombin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial trifunctional protein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial trifunctional protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
GTP cyclohydrolase I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the GTP cyclohydrolase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of malonyl-CoA decarboxylase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of malonyl-CoA decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3 beta-Hydroxysteroid dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3 beta-Hydroxysteroid dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Succinate-semialdehyde dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Succinate-semialdehyde dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked agammaglobulinemia with growth hormone deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked agammaglobulinemia with growth hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Okt4 epitope deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Okt4 epitope deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of acetyl-CoA acetyltransferase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of acetyl-CoA acetyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex II deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mineralocorticoid deficiency, isolated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mineralocorticoid deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement 1s deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement 1s deficiency 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. |
Mannose-binding protein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mannose-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucose transporter type 1 deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myd88 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myd88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cd8 deficiency, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cd8 deficiency, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acid-labile subunit deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fructose-biphosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fructose-biphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement factor B deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement factor B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Beta-hydroxyisobutyryl-CoA deacylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Beta-hydroxyisobutyryl-CoA deacylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor VIII deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor VIII deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proline dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proline dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor H deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor H deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutamine deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutamine deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of aromatic-L-amino-acid decarboxylase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of aromatic-L-amino-acid decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycine N-methyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycine N-methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ornithine carbamoyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ornithine carbamoyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sucrase-isomaltase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sucrase-isomaltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cholesterol monooxygenase (side-chain cleaving) deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cholesterol monooxygenase (side-chain cleaving) deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fucosyltransferase 6 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fucosyltransferase 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Asparagine synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Asparagine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined, 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of butyrylcholine esterase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of butyrylcholine esterase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Protein S deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of glycerol kinase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of glycerol kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of xanthine oxidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of xanthine oxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Urocanate hydratase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Urocanate hydratase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
4-Hydroxyphenylpyruvate dioxygenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 4-Hydroxyphenylpyruvate dioxygenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined deficiency of factor V and factor VIII, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor xiii, b subunit, deficiency of Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor xiii, b subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth deficiency and mental retardation with facial dysmorphism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined deficiency of sialidase AND beta galactosidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of (R)-20-hydroxysteroid dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of (R)-20-hydroxysteroid dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prolidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prolidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of beta-ureidopropionase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of beta-ureidopropionase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of guanidinoacetate methyltransferase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of guanidinoacetate methyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MYD88 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYD88 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal from the curated CTD Gene-Disease Associations dataset. |
Anemia, Iron-Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Iron-Deficiency from the curated CTD Gene-Disease Associations dataset. |
Platelet Glycoprotein IV Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Platelet Glycoprotein IV Deficiency from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial Phosphate Carrier Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial Phosphate Carrier Deficiency from the curated CTD Gene-Disease Associations dataset. |
Leukocyte Adhesion Deficiency, Type III Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukocyte Adhesion Deficiency, Type III from the curated CTD Gene-Disease Associations dataset. |
Prekallikrein Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Prekallikrein Deficiency from the curated CTD Gene-Disease 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. |
6-pyruvoyl-tetrahydropterin synthase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 6-pyruvoyl-tetrahydropterin synthase deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor XI Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor XI Deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine palmitoyl transferase 1A deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine palmitoyl transferase 1A deficiency from the curated CTD Gene-Disease Associations dataset. |
Preaxial deficiency, postaxial polydactyly and hypospadias Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset. |
THYROTROPIN-RELEASING HORMONE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THYROTROPIN-RELEASING HORMONE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Carbamoyl-Phosphate Synthase I Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Tyrosine Kinase 2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Tyrosine Kinase 2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Properdin deficiency, X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Properdin deficiency, X-linked from the curated CTD Gene-Disease Associations dataset. |
COENZYME Q10 DEFICIENCY, PRIMARY, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COENZYME Q10 DEFICIENCY, PRIMARY, 1 from the curated CTD Gene-Disease Associations dataset. |
Glutathione synthetase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutathione synthetase deficiency from the curated CTD Gene-Disease Associations dataset. |
Glucocorticoid Deficiency 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glucocorticoid Deficiency 2 from the curated CTD Gene-Disease Associations dataset. |
Aniridia cerebellar ataxia mental deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aniridia cerebellar ataxia mental deficiency from the curated CTD Gene-Disease Associations dataset. |
Combined Oxidative Phosphorylation Deficiency 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 3 from the curated CTD Gene-Disease Associations dataset. |
Proopiomelanocortin Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Proopiomelanocortin Deficiency from the curated CTD Gene-Disease Associations dataset. |
Glucocorticoid Deficiency 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glucocorticoid Deficiency 3 from the curated CTD Gene-Disease Associations dataset. |
Intrinsic Factor Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Intrinsic Factor Deficiency from the curated CTD Gene-Disease Associations dataset. |
Adenosine monophosphate deaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adenosine monophosphate deaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
alpha 1-Antitrypsin Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease alpha 1-Antitrypsin Deficiency from the curated CTD Gene-Disease Associations dataset. |
Combined Oxidative Phosphorylation Deficiency 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 2 from the curated CTD Gene-Disease Associations dataset. |
Plasminogen Deficiency, Type I Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Plasminogen Deficiency, Type I from the curated CTD Gene-Disease Associations dataset. |
IgA Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease IgA Deficiency from the curated CTD Gene-Disease Associations dataset. |
Lipase deficiency combined Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipase deficiency combined from the curated CTD Gene-Disease Associations dataset. |
DNA Repair-Deficiency Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DNA Repair-Deficiency Disorders from the curated CTD Gene-Disease Associations dataset. |
Enterokinase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Enterokinase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine Palmitoyltransferase II Deficiency, Late-Onset Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Late-Onset from the curated CTD Gene-Disease Associations dataset. |
Lactase Deficiency, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lactase Deficiency, Congenital from the curated CTD Gene-Disease Associations dataset. |
Lecithin Acyltransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lecithin Acyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Interleukin 2 Receptor, Alpha, Deficiency of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Interleukin 2 Receptor, Alpha, Deficiency of from the curated CTD Gene-Disease Associations dataset. |
Beta ketothiolase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Beta ketothiolase deficiency from the curated CTD Gene-Disease Associations dataset. |
Transaldolase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Transaldolase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Anti-plasmin deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
Succinyl-CoA:3-oxoacid CoA transferase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Succinyl-CoA:3-oxoacid CoA transferase deficiency from the curated CTD Gene-Disease Associations dataset. |
CD8 Deficiency, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CD8 Deficiency, Familial from the curated CTD Gene-Disease Associations dataset. |
Neuraminidase 1 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuraminidase 1 deficiency from the curated CTD Gene-Disease Associations dataset. |
Folic Acid Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Folic Acid Deficiency from the curated CTD Gene-Disease Associations dataset. |
Lysosomal acid lipase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lysosomal acid lipase deficiency from the curated CTD Gene-Disease Associations dataset. |
Vitamin B 12 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin B 12 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Isolated Growth Hormone Deficiency, Type II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type II from the curated CTD Gene-Disease Associations dataset. |
Familial HDL deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial HDL deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine-Acylcarnitine Translocase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine-Acylcarnitine Translocase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Methylcobalamin Deficiency, CblG Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylcobalamin Deficiency, CblG Type from the curated CTD Gene-Disease Associations dataset. |
Flaujeac factor deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Flaujeac factor deficiency from the curated CTD Gene-Disease Associations dataset. |
Ribose 5-Phosphate Isomerase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ribose 5-Phosphate Isomerase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyruvate dehydrogenase phosphatase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate dehydrogenase phosphatase deficiency from the curated CTD Gene-Disease Associations dataset. |
VLCAD deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease VLCAD deficiency from the curated CTD Gene-Disease Associations dataset. |
18-Hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 18-Hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Creatine deficiency, X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Creatine deficiency, X-linked from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial Complex III Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial Complex III Deficiency from the curated CTD Gene-Disease Associations dataset. |
PROPROTEIN CONVERTASE 1/3 DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PROPROTEIN CONVERTASE 1/3 DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
dopamine beta hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease dopamine beta hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Ehlers-Danlos syndrome caused by tenascin-X deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ehlers-Danlos syndrome caused by tenascin-X deficiency from the curated CTD Gene-Disease Associations dataset. |
Growth mental deficiency syndrome of Myhre Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Growth mental deficiency syndrome of Myhre from the curated CTD Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation With Long Bone Deficiency 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 2 from the curated CTD Gene-Disease Associations dataset. |
Ornithine Carbamoyltransferase Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ornithine Carbamoyltransferase Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Protein Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Protein Deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor 8 deficiency, acquired Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor 8 deficiency, acquired from the curated CTD Gene-Disease Associations dataset. |
3-methylcrotonyl CoA carboxylase 2 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 2 deficiency from the curated CTD Gene-Disease Associations dataset. |
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I from the curated CTD Gene-Disease Associations dataset. |
Adenylosuccinate lyase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adenylosuccinate lyase deficiency from the curated CTD Gene-Disease Associations dataset. |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of from the curated CTD Gene-Disease Associations dataset. |
Thiopurine S methyltranferase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thiopurine S methyltranferase deficiency from the curated CTD Gene-Disease Associations dataset. |
3-Hydroxyacyl-CoA Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Isolated Growth Hormone Deficiency, Type IB Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type IB from the curated CTD Gene-Disease Associations dataset. |
Vitamin A Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin A Deficiency from the curated CTD Gene-Disease Associations dataset. |
Molybdenum cofactor deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Molybdenum cofactor deficiency from the curated CTD Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation With Long Bone Deficiency 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 3 from the curated CTD Gene-Disease Associations dataset. |
Phosphoglycerate Kinase 1 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoglycerate Kinase 1 Deficiency from the curated CTD Gene-Disease Associations dataset. |
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II from the curated CTD Gene-Disease Associations dataset. |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 from the curated CTD Gene-Disease Associations dataset. |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 from the curated CTD Gene-Disease Associations dataset. |
Plasminogen Activator Inhibitor-1 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Plasminogen Activator Inhibitor-1 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Dehydrogenase E2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Dehydrogenase E2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Phosphoglycerate Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoglycerate Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Vitamin D Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin D Deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor V Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor V Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Dehydrogenase Complex Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Dehydrogenase Complex Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Ataxia with vitamin E deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ataxia with vitamin E deficiency from the curated CTD Gene-Disease Associations dataset. |
Aromatic amino acid decarboxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aromatic amino acid decarboxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor X Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor X Deficiency from the curated CTD Gene-Disease Associations dataset. |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset. |
Holocarboxylase Synthetase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Holocarboxylase Synthetase Deficiency from the curated CTD Gene-Disease Associations dataset. |
N-acetyl glutamate synthetase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease N-acetyl glutamate synthetase deficiency from the curated CTD Gene-Disease Associations dataset. |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 from the curated CTD Gene-Disease Associations dataset. |
Dimethylglycine Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dimethylglycine Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pituitary Hormone Deficiency, Combined, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 1 from the curated CTD Gene-Disease Associations dataset. |
Pituitary Hormone Deficiency, Combined, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 2 from the curated CTD Gene-Disease Associations dataset. |
Trehalase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trehalase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Guanidinoacetate methyltransferase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Guanidinoacetate methyltransferase deficiency from the curated CTD Gene-Disease Associations dataset. |
Aminoacylase 1 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aminoacylase 1 deficiency from the curated CTD Gene-Disease Associations dataset. |
Antithrombin III Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Antithrombin III Deficiency from the curated CTD Gene-Disease Associations dataset. |
Phosphoenolpyruvate carboxykinase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase deficiency from the curated CTD Gene-Disease Associations dataset. |
17-Hydroxysteroid Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 17-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Heparin Cofactor II Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Heparin Cofactor II Deficiency from the curated CTD Gene-Disease Associations dataset. |
Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency from the curated CTD Gene-Disease Associations dataset. |
D-BIFUNCTIONAL PROTEIN DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease D-BIFUNCTIONAL PROTEIN DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset. |
Arginine:Glycine Amidinotransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arginine:Glycine Amidinotransferase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Biotinidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Biotinidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
COMPLEMENT COMPONENT C1r/C1s DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT C1r/C1s DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Methionine Adenosyltransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methionine Adenosyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Phosphoenolpyruvate carboxykinase 2 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase 2 deficiency from the curated CTD Gene-Disease Associations dataset. |
Glycine N-Methyltransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glycine N-Methyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Magnesium Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Magnesium Deficiency from the curated CTD Gene-Disease Associations dataset. |
2-Methylbutyryl-CoA Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 2-Methylbutyryl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Glycosylphosphatidylinositol deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glycosylphosphatidylinositol deficiency from the curated CTD Gene-Disease Associations dataset. |