Name

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

<strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> <strong>proteinstrong> s deficiency, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the <strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> <strong>proteinstrong> s deficiency, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

<strong>Thrombophiliastrong>, hereditary, <strong>duestrong> <strong>tostrong> <strong>proteinstrong> C deficiency, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the <strong>Thrombophiliastrong>, hereditary, <strong>duestrong> <strong>tostrong> <strong>proteinstrong> C deficiency, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

<strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> <strong>proteinstrong> c deficiency, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the <strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> <strong>proteinstrong> c deficiency, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; antithrombin iii deficiency; pregnancy complications, hema<strong>tostrong>logic; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; antithrombin iii deficiency; pregnancy complications, hema<strong>tostrong>logic; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

<strong>Thrombophiliastrong> <strong>duestrong> <strong>tostrong> <strong>proteinstrong> S deficiency, au<strong>tostrong>somal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the <strong>Thrombophiliastrong> <strong>duestrong> <strong>tostrong> <strong>proteinstrong> S deficiency, au<strong>tostrong>somal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

<strong>Thrombophiliastrong>, hereditary, <strong>duestrong> <strong>tostrong> <strong>proteinstrong> C deficiency, au<strong>tostrong>somal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the <strong>Thrombophiliastrong>, hereditary, <strong>duestrong> <strong>tostrong> <strong>proteinstrong> C deficiency, au<strong>tostrong>somal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

<strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> <strong>proteinstrong> s deficiency, au<strong>tostrong>somal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the <strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> <strong>proteinstrong> s deficiency, au<strong>tostrong>somal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

<strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> <strong>proteinstrong> c deficiency, au<strong>tostrong>somal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the <strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> <strong>proteinstrong> c deficiency, au<strong>tostrong>somal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

fac<strong>tostrong>r v deficiency; hypoprothrombinemias; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; pulmonary embolism; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fac<strong>tostrong>r v deficiency; hypoprothrombinemias; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; pulmonary embolism; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antithrombin iii deficiency; gastrointestinal hemorrhage; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; splenomegaly; <strong>thrombophiliastrong>; turner syndrome; venous thrombosis; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; splenomegaly; <strong>thrombophiliastrong>; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s 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.

hypermethioninemia, persistent, au<strong>tostrong>somal dominant, <strong>duestrong> <strong>tostrong> methionine adenosyltransferase i/iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia, persistent, au<strong>tostrong>somal dominant, <strong>duestrong> <strong>tostrong> methionine adenosyltransferase i/iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

eclampsia; pre-eclampsia; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eclampsia; pre-eclampsia; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders, inherited; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders, inherited; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, from the curated CTD Gene-Disease Associations dataset.

<strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> hrg deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the <strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> hrg deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

<strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> heparin cofac<strong>tostrong>r ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the <strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> heparin cofac<strong>tostrong>r ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

<strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> antithrombin iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the <strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> antithrombin iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

<strong>Thrombophiliastrong> <strong>duestrong> <strong>tostrong> activated <strong>proteinstrong> C resistance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the <strong>Thrombophiliastrong> <strong>duestrong> <strong>tostrong> activated <strong>proteinstrong> C resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

<strong>Thrombophiliastrong> <strong>duestrong> <strong>tostrong> Activated <strong>Proteinstrong> C Resistance Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease <strong>Thrombophiliastrong> <strong>duestrong> <strong>tostrong> Activated <strong>Proteinstrong> C Resistance from the curated CTD Gene-Disease Associations dataset.

<strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> activated <strong>proteinstrong> c resistance Gene Set

From OMIM Gene-Disease Associations

genes associated with the <strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> activated <strong>proteinstrong> c resistance phenotype from the curated OMIM Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; <strong>proteinstrong> s deficiency; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; <strong>proteinstrong> s deficiency; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; blood coagulation disorders; liver diseases; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; blood coagulation disorders; liver diseases; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic granuloma<strong>tostrong>us disease, au<strong>tostrong>somal, <strong>duestrong> <strong>tostrong> deficiency of cyba Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granuloma<strong>tostrong>us disease, au<strong>tostrong>somal, <strong>duestrong> <strong>tostrong> deficiency of cyba phenotype from the curated OMIM Gene-Disease Associations dataset.

ehlers-danlos syndrome, au<strong>tostrong>somal recessive, <strong>duestrong> <strong>tostrong> tenascin x deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome, au<strong>tostrong>somal recessive, <strong>duestrong> <strong>tostrong> tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

<strong>Thrombophiliastrong> <strong>duestrong> <strong>tostrong> thrombomodulin defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the <strong>Thrombophiliastrong> <strong>duestrong> <strong>tostrong> thrombomodulin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

<strong>Thrombophiliastrong>, X-Linked, <strong>Duestrong> <strong>Tostrong> Fac<strong>tostrong>r Ix Defect Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease <strong>Thrombophiliastrong>, X-Linked, <strong>Duestrong> <strong>Tostrong> Fac<strong>tostrong>r Ix Defect from the curated CTD Gene-Disease Associations dataset.

<strong>Thrombophiliastrong> <strong>Duestrong> <strong>Tostrong> Elevated Histidine-Rich Glyco<strong>proteinstrong> Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease <strong>Thrombophiliastrong> <strong>Duestrong> <strong>Tostrong> Elevated Histidine-Rich Glyco<strong>proteinstrong> from the curated CTD Gene-Disease Associations dataset.

<strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> thrombomodulin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the <strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> thrombomodulin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

<strong>thrombophiliastrong>, familial, <strong>duestrong> <strong>tostrong> decreased release of plat Gene Set

From OMIM Gene-Disease Associations

genes associated with the <strong>thrombophiliastrong>, familial, <strong>duestrong> <strong>tostrong> decreased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset.

<strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> elevated hrg Gene Set

From OMIM Gene-Disease Associations

genes associated with the <strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> elevated hrg phenotype from the curated OMIM Gene-Disease Associations dataset.

<strong>thrombophiliastrong>, x-linked, <strong>duestrong> <strong>tostrong> fac<strong>tostrong>r ix defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the <strong>thrombophiliastrong>, x-linked, <strong>duestrong> <strong>tostrong> fac<strong>tostrong>r ix defect phenotype from the curated OMIM Gene-Disease Associations dataset.

{<strong>thrombophiliastrong>, susceptibility <strong>tostrong>, <strong>duestrong> <strong>tostrong> fac<strong>tostrong>r v leiden} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {<strong>thrombophiliastrong>, susceptibility <strong>tostrong>, <strong>duestrong> <strong>tostrong> fac<strong>tostrong>r v leiden} phenotype from the curated OMIM Gene-Disease Associations dataset.

<strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> thrombin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the <strong>thrombophiliastrong> <strong>duestrong> <strong>tostrong> thrombin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

Au<strong>tostrong>somal dominant isolated soma<strong>tostrong>tropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Au<strong>tostrong>somal dominant isolated soma<strong>tostrong>tropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercarotenemia and vitamin a deficiency, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercarotenemia and vitamin a deficiency, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Au<strong>tostrong>somal dominant CD11C+/CD1C+ dendritic cell deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Au<strong>tostrong>somal dominant CD11C+/CD1C+ dendritic cell deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercarotenemia And Vitamin A Deficiency, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Hypercarotenemia And Vitamin A Deficiency, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

fac<strong>tostrong>r xi deficiency, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the fac<strong>tostrong>r xi deficiency, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

hypercarotenemia and vitamin a deficiency, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypercarotenemia and vitamin a deficiency, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

<strong>proteinstrong> s deficiency; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease <strong>proteinstrong> s deficiency; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; fac<strong>tostrong>r v deficiency; pulmonary embolism; pulmonary embolisms; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; fac<strong>tostrong>r v deficiency; pulmonary embolism; pulmonary embolisms; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Congenital thrombotic disease, <strong>duestrong> <strong>tostrong> <strong>Proteinstrong> C deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Congenital thrombotic disease, <strong>duestrong> <strong>tostrong> <strong>Proteinstrong> C deficiency from the curated CTD Gene-Disease Associations dataset.

blood coagulation disorders; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

<strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neoplasms; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neoplasms; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ahg deficiency disease; hemophilia a; hemorrhage; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ahg deficiency disease; hemophilia a; hemorrhage; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fac<strong>tostrong>r v deficiency; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fac<strong>tostrong>r v deficiency; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Carbonic anhydrase va deficiency, hyperammonemia <strong>duestrong> <strong>tostrong> Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carbonic anhydrase va deficiency, hyperammonemia <strong>duestrong> <strong>tostrong> phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SCID <strong>duestrong> <strong>tostrong> ADA deficiency, delayed onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the SCID <strong>duestrong> <strong>tostrong> ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutathione synthetase deficiency of erythrocytes, hemolytic anemia <strong>duestrong> <strong>tostrong> Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia <strong>duestrong> <strong>tostrong> phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency <strong>duestrong> <strong>tostrong> ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency <strong>duestrong> <strong>tostrong> ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia <strong>duestrong> <strong>tostrong> Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia <strong>duestrong> <strong>tostrong> phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

HNSHA <strong>duestrong> <strong>tostrong> aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the HNSHA <strong>duestrong> <strong>tostrong> aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos-like syndrome <strong>duestrong> <strong>tostrong> tenascin-X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos-like syndrome <strong>duestrong> <strong>tostrong> tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gaucher disease, atypical, <strong>duestrong> <strong>tostrong> saposin C deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gaucher disease, atypical, <strong>duestrong> <strong>tostrong> saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Disordered steroidogenesis <strong>duestrong> <strong>tostrong> cy<strong>tostrong>chrome p450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Disordered steroidogenesis <strong>duestrong> <strong>tostrong> cy<strong>tostrong>chrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia <strong>duestrong> <strong>tostrong> hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia <strong>duestrong> <strong>tostrong> hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome <strong>duestrong> <strong>tostrong> mi<strong>tostrong>chondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome <strong>duestrong> <strong>tostrong> mi<strong>tostrong>chondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocysteinemia <strong>duestrong> <strong>tostrong> MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocysteinemia <strong>duestrong> <strong>tostrong> MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency <strong>duestrong> <strong>tostrong> ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency <strong>duestrong> <strong>tostrong> ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermethioninemia <strong>duestrong> <strong>tostrong> adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia <strong>duestrong> <strong>tostrong> adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia <strong>duestrong> <strong>tostrong> Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia <strong>duestrong> <strong>tostrong> phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscular dystrophy, congenital, <strong>duestrong> <strong>tostrong> ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscular dystrophy, congenital, <strong>duestrong> <strong>tostrong> ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria <strong>duestrong> <strong>tostrong> MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria <strong>duestrong> <strong>tostrong> MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia, nonspherocytic, <strong>duestrong> <strong>tostrong> glucose phosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia, nonspherocytic, <strong>duestrong> <strong>tostrong> glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome <strong>duestrong> <strong>tostrong> mi<strong>tostrong>chondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome <strong>duestrong> <strong>tostrong> mi<strong>tostrong>chondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 4, partial deficiency of, <strong>duestrong> <strong>tostrong> dysfunctional c1 inhibi<strong>tostrong>r Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 4, partial deficiency of, <strong>duestrong> <strong>tostrong> dysfunctional c1 inhibi<strong>tostrong>r phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy <strong>duestrong> <strong>tostrong> partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy <strong>duestrong> <strong>tostrong> partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia <strong>duestrong> <strong>tostrong> dihydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia <strong>duestrong> <strong>tostrong> dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, severe, <strong>duestrong> <strong>tostrong> leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, severe, <strong>duestrong> <strong>tostrong> leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylate kinase deficiency, hemolytic anemia <strong>duestrong> <strong>tostrong> Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylate kinase deficiency, hemolytic anemia <strong>duestrong> <strong>tostrong> phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphenylalaninemia, bh4-deficient, a, <strong>duestrong> <strong>tostrong> partial pts deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphenylalaninemia, bh4-deficient, a, <strong>duestrong> <strong>tostrong> partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital adrenal hyperplasia <strong>duestrong> <strong>tostrong> 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Congenital adrenal hyperplasia <strong>duestrong> <strong>tostrong> 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, <strong>duestrong> <strong>tostrong> Cy<strong>tostrong>chrome C Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Cardioencephalomyopathy, Fatal Infantile, <strong>duestrong> <strong>tostrong> Cy<strong>tostrong>chrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia <strong>duestrong> <strong>tostrong> Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia <strong>duestrong> <strong>tostrong> from the curated CTD Gene-Disease Associations dataset.

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia <strong>Duestrong> <strong>Tostrong> Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia <strong>Duestrong> <strong>Tostrong> from the curated CTD Gene-Disease Associations dataset.

Neurodegeneration <strong>Duestrong> <strong>Tostrong> Cerebral Folate Transport Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Neurodegeneration <strong>Duestrong> <strong>Tostrong> Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, <strong>Duestrong> <strong>Tostrong> Integrin Alpha-7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Muscular Dystrophy, Congenital, <strong>Duestrong> <strong>Tostrong> Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency <strong>duestrong> <strong>tostrong> adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Severe combined immunodeficiency <strong>duestrong> <strong>tostrong> adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

Methylmalonic Aciduria <strong>duestrong> <strong>tostrong> Methylmalonyl-CoA Mutase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Methylmalonic Aciduria <strong>duestrong> <strong>tostrong> Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset.

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia <strong>duestrong> <strong>tostrong> Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia <strong>duestrong> <strong>tostrong> from the curated CTD Gene-Disease Associations dataset.

Krabbe Disease, Atypical, <strong>duestrong> <strong>tostrong> Saposin A Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Krabbe Disease, Atypical, <strong>duestrong> <strong>tostrong> Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset.

Dys<strong>tostrong>nia, Dopa-Responsive, <strong>duestrong> <strong>tostrong> Sepiapterin Reductase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Dys<strong>tostrong>nia, Dopa-Responsive, <strong>duestrong> <strong>tostrong> Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.

Gaucher Disease, Atypical, <strong>Duestrong> <strong>Tostrong> Saposin C Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Gaucher Disease, Atypical, <strong>Duestrong> <strong>Tostrong> Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset.

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia <strong>duestrong> <strong>tostrong> Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia <strong>duestrong> <strong>tostrong> from the curated CTD Gene-Disease Associations dataset.

Congenital adrenal hyperplasia <strong>duestrong> <strong>tostrong> 11-Beta-hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Congenital adrenal hyperplasia <strong>duestrong> <strong>tostrong> 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Metachromatic Leukodystrophy <strong>duestrong> <strong>tostrong> Saposin B Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Metachromatic Leukodystrophy <strong>duestrong> <strong>tostrong> Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset.

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

{chronic infections, <strong>duestrong> <strong>tostrong> mbl deficiency} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {chronic infections, <strong>duestrong> <strong>tostrong> mbl deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency <strong>duestrong> <strong>tostrong> il2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency <strong>duestrong> <strong>tostrong> il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia <strong>duestrong> <strong>tostrong> phosphofruc<strong>tostrong>kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia <strong>duestrong> <strong>tostrong> phosphofruc<strong>tostrong>kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

nephropathy <strong>duestrong> <strong>tostrong> cfhr5 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the nephropathy <strong>duestrong> <strong>tostrong> cfhr5 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

megaloblastic anemia <strong>duestrong> <strong>tostrong> dihydrofolate reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the megaloblastic anemia <strong>duestrong> <strong>tostrong> dihydrofolate reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

?isolated growth hormone deficiency <strong>duestrong> <strong>tostrong> defect in ghrf Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?isolated growth hormone deficiency <strong>duestrong> <strong>tostrong> defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, morbid, <strong>duestrong> <strong>tostrong> leptin recep<strong>tostrong>r deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, morbid, <strong>duestrong> <strong>tostrong> leptin recep<strong>tostrong>r deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

glucocorticoid deficiency, <strong>duestrong> <strong>tostrong> acth unresponsiveness Gene Set

From OMIM Gene-Disease Associations

genes associated with the glucocorticoid deficiency, <strong>duestrong> <strong>tostrong> acth unresponsiveness phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia, nonspherocytic, <strong>duestrong> <strong>tostrong> glucose phosphate isomerase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia, nonspherocytic, <strong>duestrong> <strong>tostrong> glucose phosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, congenital, <strong>duestrong> <strong>tostrong> partial lama2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, <strong>duestrong> <strong>tostrong> partial lama2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency <strong>duestrong> <strong>tostrong> purine nucleoside phosphorylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency <strong>duestrong> <strong>tostrong> purine nucleoside phosphorylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia <strong>duestrong> <strong>tostrong> glutathione peroxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia <strong>duestrong> <strong>tostrong> glutathione peroxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

lacticacidemia <strong>duestrong> <strong>tostrong> pdx1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the lacticacidemia <strong>duestrong> <strong>tostrong> pdx1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, congenital, <strong>duestrong> <strong>tostrong> itga7 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, <strong>duestrong> <strong>tostrong> itga7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, hemolytic, <strong>duestrong> <strong>tostrong> umph1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the anemia, hemolytic, <strong>duestrong> <strong>tostrong> umph1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

homocystinuria <strong>duestrong> <strong>tostrong> mthfr deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the homocystinuria <strong>duestrong> <strong>tostrong> mthfr deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency <strong>duestrong> <strong>tostrong> ada deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency <strong>duestrong> <strong>tostrong> ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome <strong>duestrong> <strong>tostrong> mi<strong>tostrong>chondrial complex i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome <strong>duestrong> <strong>tostrong> mi<strong>tostrong>chondrial complex i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hyperplasia, congenital, <strong>duestrong> <strong>tostrong> 11-beta-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, <strong>duestrong> <strong>tostrong> 11-beta-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

cirrhosis <strong>duestrong> <strong>tostrong> liver phosphorylase kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the cirrhosis <strong>duestrong> <strong>tostrong> liver phosphorylase kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia <strong>duestrong> <strong>tostrong> gamma-glutamylcysteine synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia <strong>duestrong> <strong>tostrong> gamma-glutamylcysteine synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

metachromatic leukodystrophy <strong>duestrong> <strong>tostrong> sap-b deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the metachromatic leukodystrophy <strong>duestrong> <strong>tostrong> sap-b deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, morbid, <strong>duestrong> <strong>tostrong> leptin deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, morbid, <strong>duestrong> <strong>tostrong> leptin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome, <strong>duestrong> <strong>tostrong> cox deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome, <strong>duestrong> <strong>tostrong> cox deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

growth retardation with deafness and mental retardation <strong>duestrong> <strong>tostrong> igf1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the growth retardation with deafness and mental retardation <strong>duestrong> <strong>tostrong> igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperammonemia <strong>duestrong> <strong>tostrong> carbonic anhydrase va deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperammonemia <strong>duestrong> <strong>tostrong> carbonic anhydrase va deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia <strong>duestrong> <strong>tostrong> g6pd deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia <strong>duestrong> <strong>tostrong> g6pd deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia <strong>duestrong> <strong>tostrong> glutathione synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia <strong>duestrong> <strong>tostrong> glutathione synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

bare lymphocyte syndrome, type i, <strong>duestrong> <strong>tostrong> tap2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the bare lymphocyte syndrome, type i, <strong>duestrong> <strong>tostrong> tap2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia <strong>duestrong> <strong>tostrong> adenylate kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia <strong>duestrong> <strong>tostrong> adenylate kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia <strong>duestrong> <strong>tostrong> glutathione reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia <strong>duestrong> <strong>tostrong> glutathione reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

emphysema <strong>duestrong> <strong>tostrong> aat deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the emphysema <strong>duestrong> <strong>tostrong> aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, adrenal insufficiency, and red hair <strong>duestrong> <strong>tostrong> pomc deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, adrenal insufficiency, and red hair <strong>duestrong> <strong>tostrong> pomc deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

erythrocy<strong>tostrong>sis <strong>duestrong> <strong>tostrong> bisphosphoglycerate mutase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the erythrocy<strong>tostrong>sis <strong>duestrong> <strong>tostrong> bisphosphoglycerate mutase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperandrogenism, nonclassic type, <strong>duestrong> <strong>tostrong> 21-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperandrogenism, nonclassic type, <strong>duestrong> <strong>tostrong> 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

aica-ribosiduria <strong>duestrong> <strong>tostrong> atic deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the aica-ribosiduria <strong>duestrong> <strong>tostrong> atic deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoaldosteronism, congenital, <strong>duestrong> <strong>tostrong> cmo i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, <strong>duestrong> <strong>tostrong> cmo i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome <strong>duestrong> <strong>tostrong> mi<strong>tostrong>chondrial cox4 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome <strong>duestrong> <strong>tostrong> mi<strong>tostrong>chondrial cox4 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granuloma<strong>tostrong>us disease <strong>duestrong> <strong>tostrong> deficiency of ncf-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granuloma<strong>tostrong>us disease <strong>duestrong> <strong>tostrong> deficiency of ncf-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granuloma<strong>tostrong>us disease <strong>duestrong> <strong>tostrong> deficiency of ncf-1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granuloma<strong>tostrong>us disease <strong>duestrong> <strong>tostrong> deficiency of ncf-1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, <strong>duestrong> <strong>tostrong> cy<strong>tostrong>chrome c oxidase deficiency 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, <strong>duestrong> <strong>tostrong> cy<strong>tostrong>chrome c oxidase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, <strong>duestrong> <strong>tostrong> cy<strong>tostrong>chrome c oxidase deficiency 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, <strong>duestrong> <strong>tostrong> cy<strong>tostrong>chrome c oxidase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypermethioninemia <strong>duestrong> <strong>tostrong> adenosine kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia <strong>duestrong> <strong>tostrong> adenosine kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

dys<strong>tostrong>nia, dopa-responsive, <strong>duestrong> <strong>tostrong> sepiapterin reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the dys<strong>tostrong>nia, dopa-responsive, <strong>duestrong> <strong>tostrong> sepiapterin reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome <strong>duestrong> <strong>tostrong> cy<strong>tostrong>chrome c oxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome <strong>duestrong> <strong>tostrong> cy<strong>tostrong>chrome c oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

pyogenic bacterial infections, recurrent, <strong>duestrong> <strong>tostrong> myd88 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyogenic bacterial infections, recurrent, <strong>duestrong> <strong>tostrong> myd88 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

neurodegeneration <strong>duestrong> <strong>tostrong> cerebral folate transport deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the neurodegeneration <strong>duestrong> <strong>tostrong> cerebral folate transport deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency <strong>duestrong> <strong>tostrong> ficolin 3 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency <strong>duestrong> <strong>tostrong> ficolin 3 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hyperplasia, congenital, <strong>duestrong> <strong>tostrong> 21-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, <strong>duestrong> <strong>tostrong> 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome <strong>duestrong> <strong>tostrong> mi<strong>tostrong>chondrial complex 1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome <strong>duestrong> <strong>tostrong> mi<strong>tostrong>chondrial complex 1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia <strong>duestrong> <strong>tostrong> triosephosphate isomerase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia <strong>duestrong> <strong>tostrong> triosephosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

{resistance <strong>tostrong> malaria <strong>duestrong> <strong>tostrong> g6pd deficiency} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {resistance <strong>tostrong> malaria <strong>duestrong> <strong>tostrong> g6pd deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia <strong>duestrong> <strong>tostrong> hexokinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia <strong>duestrong> <strong>tostrong> hexokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy <strong>duestrong> <strong>tostrong> cpt ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy <strong>duestrong> <strong>tostrong> cpt ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

emphysema-cirrhosis, <strong>duestrong> <strong>tostrong> aat deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the emphysema-cirrhosis, <strong>duestrong> <strong>tostrong> aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoaldosteronism, congenital, <strong>duestrong> <strong>tostrong> cmo ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, <strong>duestrong> <strong>tostrong> cmo ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

?male infertility <strong>duestrong> <strong>tostrong> acrosin deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?male infertility <strong>duestrong> <strong>tostrong> acrosin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy <strong>duestrong> <strong>tostrong> myoadenylate deaminase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy <strong>duestrong> <strong>tostrong> myoadenylate deaminase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective GCLC causes Hemolytic anemia <strong>duestrong> <strong>tostrong> gamma-glutamylcysteine synthetase deficiency (HAGGSD) Gene Set

From Reactome Pathways

<strong>proteinstrong>s participating in the Defective GCLC causes Hemolytic anemia <strong>duestrong> <strong>tostrong> gamma-glutamylcysteine synthetase deficiency (HAGGSD) pathway from the Reac<strong>tostrong>me Pathways dataset.

Myopia 21, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopia 21, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopia 24, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopia 24, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital myo<strong>tostrong>nia, au<strong>tostrong>somal dominant form Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital myo<strong>tostrong>nia, au<strong>tostrong>somal dominant form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, au<strong>tostrong>somal dominant 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, au<strong>tostrong>somal dominant 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, au<strong>tostrong>somal dominant 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, au<strong>tostrong>somal dominant 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Giant axonal neuropathy, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Giant axonal neuropathy, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, au<strong>tostrong>somal dominant, multiple types, with microcornea Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, au<strong>tostrong>somal dominant, multiple types, with microcornea phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniodiaphyseal dysplasia, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniodiaphyseal dysplasia, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 3, au<strong>tostrong>somal dominant or recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 3, au<strong>tostrong>somal dominant or recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 30 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 30 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bernard-Soulier syndrome, type A2, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bernard-Soulier syndrome, type A2, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 24 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 28 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Au<strong>tostrong>somal dominant <strong>tostrong>rsion dys<strong>tostrong>nia 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Au<strong>tostrong>somal dominant <strong>tostrong>rsion dys<strong>tostrong>nia 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 23 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 27 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 29 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 29 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 4, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 4, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coronary artery disease, au<strong>tostrong>somal dominant 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coronary artery disease, au<strong>tostrong>somal dominant 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, au<strong>tostrong>somal dominant 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, au<strong>tostrong>somal dominant 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sick sinus syndrome 2, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sick sinus syndrome 2, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Au<strong>tostrong>somal dominant nocturnal frontal lobe epilepsy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Au<strong>tostrong>somal dominant nocturnal frontal lobe epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ceroid lipofuscinosis neuronal 4B au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ceroid lipofuscinosis neuronal 4B au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, without vestibular involvement, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, without vestibular involvement, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thyroid hormone resistance, generalized, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thyroid hormone resistance, generalized, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypocalcemia, au<strong>tostrong>somal dominant 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypocalcemia, au<strong>tostrong>somal dominant 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypocalcemia, au<strong>tostrong>somal dominant 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypocalcemia, au<strong>tostrong>somal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypocalcemia, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypocalcemia, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, distal, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, distal, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rhegma<strong>tostrong>genous retinal detachment, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rhegma<strong>tostrong>genous retinal detachment, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Keratitis, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Keratitis, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Parkinson disease 8, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Parkinson disease 8, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia, sensory, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia, sensory, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopetrosis au<strong>tostrong>somal dominant type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopetrosis au<strong>tostrong>somal dominant type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, au<strong>tostrong>somal dominant 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, au<strong>tostrong>somal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 72, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 72, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniometaphyseal dysplasia, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniometaphyseal dysplasia, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ec<strong>tostrong>dermal dysplasia, anhidrotic, with T-cell immunodeficiency, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ec<strong>tostrong>dermal dysplasia, anhidrotic, with T-cell immunodeficiency, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 31, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 31, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Optic atrophy and cataract, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Optic atrophy and cataract, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, au<strong>tostrong>somal dominant 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, au<strong>tostrong>somal dominant 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinal muscular atrophy, lower extremity predominant 2, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinal muscular atrophy, lower extremity predominant 2, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral au<strong>tostrong>somal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral au<strong>tostrong>somal dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, au<strong>tostrong>somal dominant 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, au<strong>tostrong>somal dominant 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, au<strong>tostrong>somal dominant 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, au<strong>tostrong>somal dominant 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, au<strong>tostrong>somal dominant 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, au<strong>tostrong>somal dominant 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinal muscular atrophy, lower extremity predominant 1, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinal muscular atrophy, lower extremity predominant 1, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, au<strong>tostrong>somal dominant nonsyndromic sensorineural 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, au<strong>tostrong>somal dominant nonsyndromic sensorineural 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dyskera<strong>tostrong>sis congenita, au<strong>tostrong>somal dominant, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dyskera<strong>tostrong>sis congenita, au<strong>tostrong>somal dominant, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Au<strong>tostrong>immune polyglandular syndrome type 1, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Au<strong>tostrong>immune polyglandular syndrome type 1, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, au<strong>tostrong>somal dominant 2b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, au<strong>tostrong>somal dominant 2b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, au<strong>tostrong>somal dominant 20 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, au<strong>tostrong>somal dominant 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, au<strong>tostrong>somal dominant 22 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, au<strong>tostrong>somal dominant 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, au<strong>tostrong>somal dominant 25 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, au<strong>tostrong>somal dominant 25 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, au<strong>tostrong>somal dominant 28 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, au<strong>tostrong>somal dominant 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epilepsy, lateral temporal lobe, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epilepsy, lateral temporal lobe, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 33, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 33, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neuropathy, congenital hypomyelinating, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy, congenital hypomyelinating, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Klippel-Feil syndrome 1, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Klippel-Feil syndrome 1, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, au<strong>tostrong>somal dominant 3b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, au<strong>tostrong>somal dominant 3b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, au<strong>tostrong>somal dominant 3a Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, au<strong>tostrong>somal dominant 3a phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypocalcemia, au<strong>tostrong>somal dominant 1, with bartter syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypocalcemia, au<strong>tostrong>somal dominant 1, with bartter syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 2, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 2, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Emery-dreifuss muscular dystrophy 4, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Emery-dreifuss muscular dystrophy 4, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, au<strong>tostrong>somal dominant 4b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, au<strong>tostrong>somal dominant 4b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, au<strong>tostrong>somal dominant 48 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, au<strong>tostrong>somal dominant 48 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, au<strong>tostrong>somal dominant 41 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, au<strong>tostrong>somal dominant 41 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Slowed nerve conduction velocity, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Slowed nerve conduction velocity, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dyskera<strong>tostrong>sis congenita au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dyskera<strong>tostrong>sis congenita au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Amelogenesis imperfecta - hypoplastic au<strong>tostrong>somal dominant - local Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Amelogenesis imperfecta - hypoplastic au<strong>tostrong>somal dominant - local phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercholesterolemia, au<strong>tostrong>somal dominant, type B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercholesterolemia, au<strong>tostrong>somal dominant, type B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudohypoaldosteronism type 1 au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudohypoaldosteronism type 1 au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, au<strong>tostrong>somal dominant 56 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, au<strong>tostrong>somal dominant 56 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopia 22, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopia 22, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 19 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercholesterolemia, au<strong>tostrong>somal dominant, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercholesterolemia, au<strong>tostrong>somal dominant, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dejerine-Sottas syndrome, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dejerine-Sottas syndrome, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Wolfram-like syndrome, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Wolfram-like syndrome, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Emery-Dreifuss muscular dystrophy 7, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Emery-Dreifuss muscular dystrophy 7, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, au<strong>tostrong>somal dominant 64 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, au<strong>tostrong>somal dominant 64 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 42, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 42, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Au<strong>tostrong>somal dominant progressive external ophthalmoplegia with mi<strong>tostrong>chondrial DNA deletions 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Au<strong>tostrong>somal dominant progressive external ophthalmoplegia with mi<strong>tostrong>chondrial DNA deletions 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Au<strong>tostrong>somal dominant progressive external ophthalmoplegia with mi<strong>tostrong>chondrial DNA deletions 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Au<strong>tostrong>somal dominant progressive external ophthalmoplegia with mi<strong>tostrong>chondrial DNA deletions 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Au<strong>tostrong>somal dominant progressive external ophthalmoplegia with mi<strong>tostrong>chondrial DNA deletions 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Au<strong>tostrong>somal dominant progressive external ophthalmoplegia with mi<strong>tostrong>chondrial DNA deletions 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Au<strong>tostrong>somal dominant progressive external ophthalmoplegia with mi<strong>tostrong>chondrial DNA deletions 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Au<strong>tostrong>somal dominant progressive external ophthalmoplegia with mi<strong>tostrong>chondrial DNA deletions 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Au<strong>tostrong>somal dominant hypophosphatemic rickets Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Au<strong>tostrong>somal dominant hypophosphatemic rickets phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ec<strong>tostrong>pia lentis, isolated, au<strong>tostrong>somal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ec<strong>tostrong>pia lentis, isolated, au<strong>tostrong>somal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, au<strong>tostrong>somal dominant 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, au<strong>tostrong>somal dominant 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 39, with Dentinogenesis Imperfecta 1 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 39, with Dentinogenesis Imperfecta 1 from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 36, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Spastic Paraplegia 36, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Thyroid Hormone Resistance, Generalized, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Thyroid Hormone Resistance, Generalized, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Night Blindness, Congenital Stationary, Au<strong>tostrong>somal Dominant 3 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Night Blindness, Congenital Stationary, Au<strong>tostrong>somal Dominant 3 from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 44 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 44 from the curated CTD Gene-Disease Associations dataset.

WOOLLY HAIR, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease WOOLLY HAIR, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 47 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 47 from the curated CTD Gene-Disease Associations dataset.

Filaminopathy, au<strong>tostrong>somal dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Filaminopathy, au<strong>tostrong>somal dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 25 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 25 from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 15 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 15 from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 10 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 10 from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL DOMINANT 27 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease DEAFNESS, AUTOSOMAL DOMINANT 27 from the curated CTD Gene-Disease Associations dataset.

Hypophosphatemic Rickets, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Hypophosphatemic Rickets, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Progressive External Ophthalmoplegia with Mi<strong>tostrong>chondrial DNA Deletions, Au<strong>tostrong>somal Dominant, 3 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Progressive External Ophthalmoplegia with Mi<strong>tostrong>chondrial DNA Deletions, Au<strong>tostrong>somal Dominant, 3 from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Au<strong>tostrong>somal Dominant 2 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Neutropenia, Severe Congenital, Au<strong>tostrong>somal Dominant 2 from the curated CTD Gene-Disease Associations dataset.

Sick Sinus Syndrome 2, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Sick Sinus Syndrome 2, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Nystagmus 2, congenital, au<strong>tostrong>somal dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Nystagmus 2, congenital, au<strong>tostrong>somal dominant from the curated CTD Gene-Disease Associations dataset.

Coronary Artery Disease, Au<strong>tostrong>somal Dominant 2 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Coronary Artery Disease, Au<strong>tostrong>somal Dominant 2 from the curated CTD Gene-Disease Associations dataset.

Nystagmus 4, congenital, au<strong>tostrong>somal dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Nystagmus 4, congenital, au<strong>tostrong>somal dominant from the curated CTD Gene-Disease Associations dataset.

Spinal Muscular Atrophy, Proximal, Adult, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Spinal Muscular Atrophy, Proximal, Adult, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Ec<strong>tostrong>dermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Ec<strong>tostrong>dermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 4, au<strong>tostrong>somal dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Spastic paraplegia 4, au<strong>tostrong>somal dominant from the curated CTD Gene-Disease Associations dataset.

Hypercholesterolemia, Au<strong>tostrong>somal Dominant, 3 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Hypercholesterolemia, Au<strong>tostrong>somal Dominant, 3 from the curated CTD Gene-Disease Associations dataset.

PARKINSON DISEASE 8, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease PARKINSON DISEASE 8, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 31, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Spastic Paraplegia 31, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL DOMINANT 4A Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease DEAFNESS, AUTOSOMAL DOMINANT 4A from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 42, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Spastic Paraplegia 42, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 33, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Spastic Paraplegia 33, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Slowed Nerve Conduction Velocity, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Slowed Nerve Conduction Velocity, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 10, au<strong>tostrong>somal dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Spastic paraplegia 10, au<strong>tostrong>somal dominant from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Au<strong>tostrong>somal Dominant 3 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Mental Retardation, Au<strong>tostrong>somal Dominant 3 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Au<strong>tostrong>somal Dominant 5 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Mental Retardation, Au<strong>tostrong>somal Dominant 5 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Au<strong>tostrong>somal Dominant 4 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Mental Retardation, Au<strong>tostrong>somal Dominant 4 from the curated CTD Gene-Disease Associations dataset.

Parkinson Disease 3, Au<strong>tostrong>somal Dominant Lewy Body Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Parkinson Disease 3, Au<strong>tostrong>somal Dominant Lewy Body from the curated CTD Gene-Disease Associations dataset.

Polycystic Kidney, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Polycystic Kidney, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

PARKINSON DISEASE 5, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease PARKINSON DISEASE 5, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Ehlers-Danlos Syndrome, Type VII, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Ehlers-Danlos Syndrome, Type VII, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 53 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 53 from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 49 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 49 from the curated CTD Gene-Disease Associations dataset.

Progressive External Ophthalmoplegia with Mi<strong>tostrong>chondrial DNA Deletions, Au<strong>tostrong>somal Dominant, 4 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Progressive External Ophthalmoplegia with Mi<strong>tostrong>chondrial DNA Deletions, Au<strong>tostrong>somal Dominant, 4 from the curated CTD Gene-Disease Associations dataset.

Progressive External Ophthalmoplegia with Mi<strong>tostrong>chondrial DNA Deletions, Au<strong>tostrong>somal Dominant, 2 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Progressive External Ophthalmoplegia with Mi<strong>tostrong>chondrial DNA Deletions, Au<strong>tostrong>somal Dominant, 2 from the curated CTD Gene-Disease Associations dataset.

Progressive External Ophthalmoplegia with Mi<strong>tostrong>chondrial DNA Deletions, Au<strong>tostrong>somal Dominant, 1 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Progressive External Ophthalmoplegia with Mi<strong>tostrong>chondrial DNA Deletions, Au<strong>tostrong>somal Dominant, 1 from the curated CTD Gene-Disease Associations dataset.

Radiation Sensitivity Chromosome Instability Syndrome, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Radiation Sensitivity Chromosome Instability Syndrome, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 9, au<strong>tostrong>somal dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Spastic paraplegia 9, au<strong>tostrong>somal dominant from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 37, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Spastic Paraplegia 37, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Osteopetrosis au<strong>tostrong>somal dominant type 1 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Osteopetrosis au<strong>tostrong>somal dominant type 1 from the curated CTD Gene-Disease Associations dataset.

Craniometaphyseal Dysplasia, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Craniometaphyseal Dysplasia, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Familial Mediterranean Fever, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Familial Mediterranean Fever, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 3, au<strong>tostrong>somal dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Spastic paraplegia 3, au<strong>tostrong>somal dominant from the curated CTD Gene-Disease Associations dataset.

Cataract, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Cataract, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 38, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Spastic Paraplegia 38, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 48 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 48 from the curated CTD Gene-Disease Associations dataset.

Hypertension, Early-Onset, Au<strong>tostrong>somal Dominant, with Severe Exacerbation in Pregnancy Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Hypertension, Early-Onset, Au<strong>tostrong>somal Dominant, with Severe Exacerbation in Pregnancy from the curated CTD Gene-Disease Associations dataset.

Macrothrombocy<strong>tostrong>penia, Au<strong>tostrong>somal Dominant, Tubb1-Related Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Macrothrombocy<strong>tostrong>penia, Au<strong>tostrong>somal Dominant, Tubb1-Related from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 29, au<strong>tostrong>somal dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Spastic paraplegia 29, au<strong>tostrong>somal dominant from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Au<strong>tostrong>somal Dominant 1 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Neutropenia, Severe Congenital, Au<strong>tostrong>somal Dominant 1 from the curated CTD Gene-Disease Associations dataset.

Striatal Degeneration, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Striatal Degeneration, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 23 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 23 from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 28 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 28 from the curated CTD Gene-Disease Associations dataset.

Optic atrophy and cataract, au<strong>tostrong>somal dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Optic atrophy and cataract, au<strong>tostrong>somal dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 43 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 43 from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 6, au<strong>tostrong>somal dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Spastic paraplegia 6, au<strong>tostrong>somal dominant from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 8, au<strong>tostrong>somal dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Spastic paraplegia 8, au<strong>tostrong>somal dominant from the curated CTD Gene-Disease Associations dataset.

Sensorimo<strong>tostrong>r neuropathy with ataxia, au<strong>tostrong>somal dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Sensorimo<strong>tostrong>r neuropathy with ataxia, au<strong>tostrong>somal dominant from the curated CTD Gene-Disease Associations dataset.

Dyskera<strong>tostrong>sis Congenita, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Dyskera<strong>tostrong>sis Congenita, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 6 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 6 from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 5 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 5 from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 1 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 1 from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 9 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 9 from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 2B Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 2B from the curated CTD Gene-Disease Associations dataset.

Deafness, au<strong>tostrong>somal dominant nonsyndromic sensorineural 17 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, au<strong>tostrong>somal dominant nonsyndromic sensorineural 17 from the curated CTD Gene-Disease Associations dataset.

BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

PARKINSON DISEASE 1, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease PARKINSON DISEASE 1, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 21 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 21 from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL DOMINANT 50 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease DEAFNESS, AUTOSOMAL DOMINANT 50 from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 7 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 7 from the curated CTD Gene-Disease Associations dataset.

Audi<strong>tostrong>ry Neuropathy, Au<strong>tostrong>somal Dominant, 1 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Audi<strong>tostrong>ry Neuropathy, Au<strong>tostrong>somal Dominant, 1 from the curated CTD Gene-Disease Associations dataset.

PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO from the curated CTD Gene-Disease Associations dataset.

Ataxia, Spastic, 1, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Ataxia, Spastic, 1, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Cataract, Au<strong>tostrong>somal Dominant, Multiple Types 1 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Cataract, Au<strong>tostrong>somal Dominant, Multiple Types 1 from the curated CTD Gene-Disease Associations dataset.

Nystagmus 3, congenital, au<strong>tostrong>somal dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Nystagmus 3, congenital, au<strong>tostrong>somal dominant from the curated CTD Gene-Disease Associations dataset.

Laterality Defects, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Laterality Defects, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

MYOTONIA CONGENITA, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease MYOTONIA CONGENITA, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 from the curated CTD Gene-Disease Associations dataset.

Periodic fever, familial, au<strong>tostrong>somal dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Periodic fever, familial, au<strong>tostrong>somal dominant from the curated CTD Gene-Disease Associations dataset.

CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 59 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 59 from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 52 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 52 from the curated CTD Gene-Disease Associations dataset.

Hyper-Ige Recurrent Infection Syndrome, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Hyper-Ige Recurrent Infection Syndrome, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

CUTIS LAXA, AUTOSOMAL DOMINANT 1 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease CUTIS LAXA, AUTOSOMAL DOMINANT 1 from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 16 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 16 from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 13, au<strong>tostrong>somal dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Spastic paraplegia 13, au<strong>tostrong>somal dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 11 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 11 from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 12 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 12 from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 13 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 13 from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 18 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 18 from the curated CTD Gene-Disease Associations dataset.

ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Inclusion Body Myopathy 3, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Inclusion Body Myopathy 3, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Progressive External Ophthalmoplegia With Mi<strong>tostrong>chondrial Dna Deletions, Au<strong>tostrong>somal Dominant, 5 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Progressive External Ophthalmoplegia With Mi<strong>tostrong>chondrial Dna Deletions, Au<strong>tostrong>somal Dominant, 5 from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 20 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 20 from the curated CTD Gene-Disease Associations dataset.

Optic Atrophy, Au<strong>tostrong>somal Dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Optic Atrophy, Au<strong>tostrong>somal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 24 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 24 from the curated CTD Gene-Disease Associations dataset.

Parkinson Disease 4, Au<strong>tostrong>somal Dominant Lewy Body Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Parkinson Disease 4, Au<strong>tostrong>somal Dominant Lewy Body from the curated CTD Gene-Disease Associations dataset.

Coronary Artery Disease, Au<strong>tostrong>somal Dominant, 1 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Coronary Artery Disease, Au<strong>tostrong>somal Dominant, 1 from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 2A Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 2A from the curated CTD Gene-Disease Associations dataset.

Night Blindness, Congenital Stationary, Au<strong>tostrong>somal Dominant 2 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Night Blindness, Congenital Stationary, Au<strong>tostrong>somal Dominant 2 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Au<strong>tostrong>somal Dominant 1 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Mental Retardation, Au<strong>tostrong>somal Dominant 1 from the curated CTD Gene-Disease Associations dataset.

Night Blindness, Congenital Stationary, Au<strong>tostrong>somal Dominant 1 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Night Blindness, Congenital Stationary, Au<strong>tostrong>somal Dominant 1 from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 19, au<strong>tostrong>somal dominant Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Spastic paraplegia 19, au<strong>tostrong>somal dominant from the curated CTD Gene-Disease Associations dataset.

PARKINSON DISEASE 11, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease PARKINSON DISEASE 11, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 36 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 36 from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 3B Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 3B from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 3A Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 3A from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 30 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 30 from the curated CTD Gene-Disease Associations dataset.

Deafness, Au<strong>tostrong>somal Dominant 31 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Deafness, Au<strong>tostrong>somal Dominant 31 from the curated CTD Gene-Disease Associations dataset.

au<strong>tostrong>somal dominant disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease au<strong>tostrong>somal dominant disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

au<strong>tostrong>somal dominant disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease au<strong>tostrong>somal dominant disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

au<strong>tostrong>somal dominant nonsyndromic deafness Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease au<strong>tostrong>somal dominant nonsyndromic deafness in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

au<strong>tostrong>somal dominant microcephaly Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease au<strong>tostrong>somal dominant microcephaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

chronic renal failure; kidney failure, chronic; polycystic kidney, au<strong>tostrong>somal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; kidney failure, chronic; polycystic kidney, au<strong>tostrong>somal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

au<strong>tostrong>somal dominant hearing loss Gene Set

From GAD Gene-Disease Associations

genes associated with the disease au<strong>tostrong>somal dominant hearing loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

kidney failure, chronic; polycystic kidney, au<strong>tostrong>somal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease kidney failure, chronic; polycystic kidney, au<strong>tostrong>somal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; hypertrophy, left ventricular; kidney failure, chronic; left ventricular hypertrophy; polycystic kidney, au<strong>tostrong>somal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; hypertrophy, left ventricular; kidney failure, chronic; left ventricular hypertrophy; polycystic kidney, au<strong>tostrong>somal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

au<strong>tostrong>somal dominant macular degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease au<strong>tostrong>somal dominant macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glomerulonephritis, iga; iga glomerulonephritides; polycystic kidney, au<strong>tostrong>somal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glomerulonephritis, iga; iga glomerulonephritides; polycystic kidney, au<strong>tostrong>somal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus; polycystic kidney, au<strong>tostrong>somal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus; polycystic kidney, au<strong>tostrong>somal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; hypertension; kidney failure, chronic; polycystic kidney, au<strong>tostrong>somal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; hypertension; kidney failure, chronic; polycystic kidney, au<strong>tostrong>somal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

au<strong>tostrong>somal-dominant retinitis pigmen<strong>tostrong>sa Gene Set

From GAD Gene-Disease Associations

genes associated with the disease au<strong>tostrong>somal-dominant retinitis pigmen<strong>tostrong>sa in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; glomerulonephritis; kidney failure, chronic; polycystic kidney, au<strong>tostrong>somal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; glomerulonephritis; kidney failure, chronic; polycystic kidney, au<strong>tostrong>somal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cystic fibrosis; polycystic kidney, au<strong>tostrong>somal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cystic fibrosis; polycystic kidney, au<strong>tostrong>somal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

au<strong>tostrong>somal dominant coral-like cataract Gene Set

From GAD Gene-Disease Associations

genes associated with the disease au<strong>tostrong>somal dominant coral-like cataract in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertension; polycystic kidney, au<strong>tostrong>somal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertension; polycystic kidney, au<strong>tostrong>somal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

optic atrophy, au<strong>tostrong>somal dominant; optic atrophy, hereditary, leber Gene Set

From GAD Gene-Disease Associations

genes associated with the disease optic atrophy, au<strong>tostrong>somal dominant; optic atrophy, hereditary, leber in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic kidney, au<strong>tostrong>somal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic kidney, au<strong>tostrong>somal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

au<strong>tostrong>somal dominant anhidrotic ec<strong>tostrong>dermal dysplasia and t cell immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease au<strong>tostrong>somal dominant anhidrotic ec<strong>tostrong>dermal dysplasia and t cell immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

optic atrophies, hereditary; optic atrophy, au<strong>tostrong>somal dominant; optic atrophy, hereditary, leber Gene Set

From GAD Gene-Disease Associations

genes associated with the disease optic atrophies, hereditary; optic atrophy, au<strong>tostrong>somal dominant; optic atrophy, hereditary, leber in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

White matter hyperintensity volume in cerebral au<strong>tostrong>somal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the White matter hyperintensity volume in cerebral au<strong>tostrong>somal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

au<strong>tostrong>somal dominant disease Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease au<strong>tostrong>somal dominant disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

au<strong>tostrong>somal dominant inheritance Gene Set

From HPO Gene-Disease Associations

genes associated with the au<strong>tostrong>somal dominant inheritance phenotype by mapping known disease genes <strong>tostrong> disease phenotypes from the HPO Gene-Disease Associations dataset.

au<strong>tostrong>somal dominant contiguous gene syndrome Gene Set

From HPO Gene-Disease Associations

genes associated with the au<strong>tostrong>somal dominant contiguous gene syndrome phenotype by mapping known disease genes <strong>tostrong> disease phenotypes from the HPO Gene-Disease Associations dataset.

sex-limited au<strong>tostrong>somal dominant Gene Set

From HPO Gene-Disease Associations

genes associated with the sex-limited au<strong>tostrong>somal dominant phenotype by mapping known disease genes <strong>tostrong> disease phenotypes from the HPO Gene-Disease Associations dataset.

au<strong>tostrong>somal dominant inheritance with maternal imprinting Gene Set

From HPO Gene-Disease Associations

genes associated with the au<strong>tostrong>somal dominant inheritance with maternal imprinting phenotype by mapping known disease genes <strong>tostrong> disease phenotypes from the HPO Gene-Disease Associations dataset.

au<strong>tostrong>somal dominant somatic cell mutation Gene Set

From HPO Gene-Disease Associations

genes associated with the au<strong>tostrong>somal dominant somatic cell mutation phenotype by mapping known disease genes <strong>tostrong> disease phenotypes from the HPO Gene-Disease Associations dataset.

Polycystic Kidney, Au<strong>tostrong>somal Dominant Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Polycystic Kidney, Au<strong>tostrong>somal Dominant phenotype by text-mining GWAS publications from the HuGE Naviga<strong>tostrong>r Gene-Phenotype Associations dataset.

Optic Atrophy, Au<strong>tostrong>somal Dominant Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Optic Atrophy, Au<strong>tostrong>somal Dominant phenotype by text-mining GWAS publications from the HuGE Naviga<strong>tostrong>r Gene-Phenotype Associations dataset.

nemaline myopathy 6, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 6, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 8, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 8, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 19 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 19 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 18 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 18 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 15 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 15 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 17 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 17 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 16 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 16 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 13, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 13, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 12, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 12, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

dys<strong>tostrong>nia 4, <strong>tostrong>rsion, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the dys<strong>tostrong>nia 4, <strong>tostrong>rsion, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

macrothrombocy<strong>tostrong>penia, au<strong>tostrong>somal dominant, tubb1-related Gene Set

From OMIM Gene-Disease Associations

genes associated with the macrothrombocy<strong>tostrong>penia, au<strong>tostrong>somal dominant, tubb1-related phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 30 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 30 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

striatal degeneration, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the striatal degeneration, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

progressive external ophthalmoplegia, au<strong>tostrong>somal dominant, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the progressive external ophthalmoplegia, au<strong>tostrong>somal dominant, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

?spastic paraplegia 72, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spastic paraplegia 72, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

hypocalcemia, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypocalcemia, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary, au<strong>tostrong>somal dominant 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary, au<strong>tostrong>somal dominant 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary, au<strong>tostrong>somal dominant 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary, au<strong>tostrong>somal dominant 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency 31a, mycobacteriosis, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency 31a, mycobacteriosis, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

{coronary artery disease, au<strong>tostrong>somal dominant, 2} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {coronary artery disease, au<strong>tostrong>somal dominant, 2} phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 29, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 29, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 22, with hypertrophic cardiomyopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 22, with hypertrophic cardiomyopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

retinal degeneration, late-onset, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinal degeneration, late-onset, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

{osteoporosis, early-onset, susceptibility <strong>tostrong>, au<strong>tostrong>somal dominant} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {osteoporosis, early-onset, susceptibility <strong>tostrong>, au<strong>tostrong>somal dominant} phenotype from the curated OMIM Gene-Disease Associations dataset.

emery-dreifuss muscular dystrophy 4, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the emery-dreifuss muscular dystrophy 4, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

woolly hair, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the woolly hair, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 47 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 47 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 19, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 19, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

?spondylocostal dysos<strong>tostrong>sis 5, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spondylocostal dysos<strong>tostrong>sis 5, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 33, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 33, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 42, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 42, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 1, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 1, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoparathyroidism, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoparathyroidism, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

?mental retardation, au<strong>tostrong>somal dominant 22 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mental retardation, au<strong>tostrong>somal dominant 22 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypocalcemia, au<strong>tostrong>somal dominant 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypocalcemia, au<strong>tostrong>somal dominant 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopia 24, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopia 24, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

nystagmus 2, congenital, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the nystagmus 2, congenital, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 1, au<strong>tostrong>somal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 1, au<strong>tostrong>somal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 37, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 37, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

candidiasis, familial, 6, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the candidiasis, familial, 6, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 15 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 15 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 16 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 16 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 18 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 18 phenotype from the curated OMIM Gene-Disease Associations dataset.

craniodiaphyseal dysplasia, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniodiaphyseal dysplasia, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

ehlers-danlos syndrome, au<strong>tostrong>somal dominant, hypermobility type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome, au<strong>tostrong>somal dominant, hypermobility type phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 8/12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 8/12 phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 4, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 4, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 36 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 36 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 33 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 33 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 30 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 30 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 31 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 31 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 3b Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 3b phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 3a Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 3a phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 31 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 31 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 64 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 64 phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

preauricular tag, isolated, au<strong>tostrong>somal dominant, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the preauricular tag, isolated, au<strong>tostrong>somal dominant, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 58 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 58 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 59 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 59 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 50 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 50 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 52 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 52 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 53 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 53 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 54 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 54 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 56 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 56 phenotype from the curated OMIM Gene-Disease Associations dataset.

cataract 37, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the cataract 37, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

robinow syndrome, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the robinow syndrome, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 38, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 38, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

hypertension, early-onset, au<strong>tostrong>somal dominant, with exacerbation in pregnancy Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypertension, early-onset, au<strong>tostrong>somal dominant, with exacerbation in pregnancy phenotype from the curated OMIM Gene-Disease Associations dataset.

cataract 39, multiple types, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the cataract 39, multiple types, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

bleeding disorder, platelet-type, 16, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the bleeding disorder, platelet-type, 16, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary, au<strong>tostrong>somal dominant 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary, au<strong>tostrong>somal dominant 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopia 22, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopia 22, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

ec<strong>tostrong>dermal dysplasia 11a, hypohidrotic/hair/<strong>tostrong>oth type, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ec<strong>tostrong>dermal dysplasia 11a, hypohidrotic/hair/<strong>tostrong>oth type, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

wolfram-like syndrome, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the wolfram-like syndrome, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperekplexia, hereditary 1, au<strong>tostrong>somal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperekplexia, hereditary 1, au<strong>tostrong>somal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

leukodystrophy, adult-onset, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukodystrophy, adult-onset, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic ataxia 1, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic ataxia 1, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

osteopetrosis, au<strong>tostrong>somal dominant 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteopetrosis, au<strong>tostrong>somal dominant 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

osteopetrosis, au<strong>tostrong>somal dominant 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteopetrosis, au<strong>tostrong>somal dominant 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

corneal endothelial dystrophy 1, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal endothelial dystrophy 1, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

retinitis pigmen<strong>tostrong>sa 4, au<strong>tostrong>somal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinitis pigmen<strong>tostrong>sa 4, au<strong>tostrong>somal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

klippel-feil syndrome 1, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the klippel-feil syndrome 1, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 9, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 9, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

progressive external ophthalmoplegia with mi<strong>tostrong>chondrial dna deletions, au<strong>tostrong>somal dominant 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the progressive external ophthalmoplegia with mi<strong>tostrong>chondrial dna deletions, au<strong>tostrong>somal dominant 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 6/14/38 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 6/14/38 phenotype from the curated OMIM Gene-Disease Associations dataset.

nystagmus 7, congenital, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the nystagmus 7, congenital, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

audi<strong>tostrong>ry neuropathy, au<strong>tostrong>somal dominant, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the audi<strong>tostrong>ry neuropathy, au<strong>tostrong>somal dominant, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

{dyskera<strong>tostrong>sis congenita, au<strong>tostrong>somal dominant 2} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {dyskera<strong>tostrong>sis congenita, au<strong>tostrong>somal dominant 2} phenotype from the curated OMIM Gene-Disease Associations dataset.

dyskera<strong>tostrong>sis congenita, au<strong>tostrong>somal dominant 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyskera<strong>tostrong>sis congenita, au<strong>tostrong>somal dominant 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

dyskera<strong>tostrong>sis congenita, au<strong>tostrong>somal dominant 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyskera<strong>tostrong>sis congenita, au<strong>tostrong>somal dominant 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

dyskera<strong>tostrong>sis congenita, au<strong>tostrong>somal dominant 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyskera<strong>tostrong>sis congenita, au<strong>tostrong>somal dominant 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

{coronary artery disease, au<strong>tostrong>somal dominant, 1} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {coronary artery disease, au<strong>tostrong>somal dominant, 1} phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 21 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 21 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 23 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 23 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 24 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 24 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 26 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 26 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant 29 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant 29 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 6, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 6, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

radiation sensitivity/chromosome instability syndrome, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the radiation sensitivity/chromosome instability syndrome, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

klippel-feil syndrome 3, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the klippel-feil syndrome 3, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

progressive external ophthalmoplegia with mi<strong>tostrong>chondrial dna deletions, au<strong>tostrong>somal dominant, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the progressive external ophthalmoplegia with mi<strong>tostrong>chondrial dna deletions, au<strong>tostrong>somal dominant, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

progressive external ophthalmoplegia with mi<strong>tostrong>chondrial dna deletions, au<strong>tostrong>somal dominant, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the progressive external ophthalmoplegia with mi<strong>tostrong>chondrial dna deletions, au<strong>tostrong>somal dominant, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

alport syndrome, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the alport syndrome, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

hypophosphatemic rickets, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypophosphatemic rickets, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant, with peripheral neuropathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant, with peripheral neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 10, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 10, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, neurosensory, without vestibular involvement, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, neurosensory, without vestibular involvement, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

pseudohypoaldosteronism type i, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the pseudohypoaldosteronism type i, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

?spastic paraplegia 41, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spastic paraplegia 41, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

hypocalcemia, au<strong>tostrong>somal dominant, with bartter syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypocalcemia, au<strong>tostrong>somal dominant, with bartter syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency 31c, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency 31c, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

progressive external ophthalmoplegia, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the progressive external ophthalmoplegia, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 4, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 4, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 3, au<strong>tostrong>somal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 3, au<strong>tostrong>somal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

myopia 21, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopia 21, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

cutis laxa, au<strong>tostrong>somal dominant 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutis laxa, au<strong>tostrong>somal dominant 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

nystagmus 3, congenital, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the nystagmus 3, congenital, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 36, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 36, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

ataxia, sensory, 1, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ataxia, sensory, 1, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency 32a, mycobacteriosis, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency 32a, mycobacteriosis, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

?deafness, au<strong>tostrong>somal dominant 4b Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?deafness, au<strong>tostrong>somal dominant 4b phenotype from the curated OMIM Gene-Disease Associations dataset.

?mental retardation, au<strong>tostrong>somal dominant 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mental retardation, au<strong>tostrong>somal dominant 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 36, with dentinogenesis Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 36, with dentinogenesis phenotype from the curated OMIM Gene-Disease Associations dataset.

emery-dreifuss muscular dystrophy 5, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the emery-dreifuss muscular dystrophy 5, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 2a Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 2a phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 2b Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 2b phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 21 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 21 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 23 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 23 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 22 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 22 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 25 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 25 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 24 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 24 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 27 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 27 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 28 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 28 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 17 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 17 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 3a, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 3a, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 4a Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 4a phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 49 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 49 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 48 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 48 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 43 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 43 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 41 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 41 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 40 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 40 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 44 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 44 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

candidiasis, familial, 1, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the candidiasis, familial, 1, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 20/26 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 20/26 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, au<strong>tostrong>somal dominant 65 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, au<strong>tostrong>somal dominant 65 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopia 20, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopia 20, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant, 27 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant, 27 phenotype from the curated OMIM Gene-Disease Associations dataset.

nystagmus 4, congenital, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the nystagmus 4, congenital, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 2, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 2, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

?giant axonal neuropathy 2, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?giant axonal neuropathy 2, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, au<strong>tostrong>somal dominant, 28 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, au<strong>tostrong>somal dominant, 28 phenotype from the curated OMIM Gene-Disease Associations dataset.

ec<strong>tostrong>dermal dysplasia 10a, hypohidrotic/hair/nail type, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ec<strong>tostrong>dermal dysplasia 10a, hypohidrotic/hair/nail type, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 31, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 31, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebellar ataxia, deafness, and narcolepsy, au<strong>tostrong>somal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebellar ataxia, deafness, and narcolepsy, au<strong>tostrong>somal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; complication, cardiovascular pregnancy; pregnancy complications, cardiovascular; puerperal disorders; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; complication, cardiovascular pregnancy; pregnancy complications, cardiovascular; puerperal disorders; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; pos<strong>tostrong>perative complications; pulmonary embolism; pulmonary embolisms; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; pos<strong>tostrong>perative complications; pulmonary embolism; pulmonary embolisms; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; <strong>thrombophiliastrong>; thrombosis; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; <strong>thrombophiliastrong>; thrombosis; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; recurrence; thromboembolism; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; recurrence; thromboembolism; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abortion, habitual; activated <strong>proteinstrong> c resistance; fetal growth retardation; hypertension; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hema<strong>tostrong>logic; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abortion, habitual; activated <strong>proteinstrong> c resistance; fetal growth retardation; hypertension; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hema<strong>tostrong>logic; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; blood coagulation disorders, inherited; femur head necrosis; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; blood coagulation disorders, inherited; femur head necrosis; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abortion, habitual; abruptio placentae; activated <strong>proteinstrong> c resistance; placenta abruptio; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abortion, habitual; abruptio placentae; activated <strong>proteinstrong> c resistance; placenta abruptio; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; homocystinuria; hyperhomocysteinemia; muscle spasticity; sepsis; septic shock; shock, septic; systemic infection; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

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

activated <strong>proteinstrong> c resistance; cardiovascular diseases; polycythemia vera; recurrence; thrombocythemia, hemorrhagic; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; cardiovascular diseases; polycythemia vera; recurrence; thrombocythemia, hemorrhagic; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coagulation <strong>proteinstrong> disorders; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coagulation <strong>proteinstrong> disorders; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abortion, habitual; activated <strong>proteinstrong> c resistance; infertility, female; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abortion, habitual; activated <strong>proteinstrong> c resistance; infertility, female; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; multiple myeloma; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; multiple myeloma; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; peripheral vascular diseases; recurrence; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; peripheral vascular diseases; recurrence; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; pregnancy complications, hema<strong>tostrong>logic; puerperal disorders; pulmonary embolism; <strong>thrombophiliastrong>; thrombophlebitis; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; pregnancy complications, hema<strong>tostrong>logic; puerperal disorders; pulmonary embolism; <strong>thrombophiliastrong>; thrombophlebitis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; hyperhomocysteinemia; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; hyperhomocysteinemia; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; infection; neoplasms; <strong>thrombophiliastrong>; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; infection; neoplasms; <strong>thrombophiliastrong>; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; pulmonary embolism; pulmonary embolisms; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; pulmonary embolism; pulmonary embolisms; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; coronary disease; coronary heart disease; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; coronary disease; coronary heart disease; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; thromboembolism; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; thromboembolism; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; hemochroma<strong>tostrong>sis; iron overload; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; hemochroma<strong>tostrong>sis; iron overload; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated <strong>proteinstrong> c resistance; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Immunodeficiency <strong>duestrong> <strong>tostrong> Defect in MAPBP-Interacting <strong>Proteinstrong> Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Immunodeficiency <strong>duestrong> <strong>tostrong> Defect in MAPBP-Interacting <strong>Proteinstrong> from the curated CTD Gene-Disease Associations dataset.

immunodeficiency <strong>duestrong> <strong>tostrong> defect in mapbp-interacting <strong>proteinstrong> Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency <strong>duestrong> <strong>tostrong> defect in mapbp-interacting <strong>proteinstrong> phenotype from the curated OMIM Gene-Disease Associations dataset.

l-ferritin deficiency, dominant and recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the l-ferritin deficiency, dominant and recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

Methionine adenosyltransferase deficiency, au<strong>tostrong>somal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, au<strong>tostrong>somal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glut1 deficiency syndrome 1, au<strong>tostrong>somal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glut1 deficiency syndrome 1, au<strong>tostrong>somal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monocyte and dendritic cell deficiency, au<strong>tostrong>somal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monocyte and dendritic cell deficiency, au<strong>tostrong>somal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

immunodeficiency 32b, monocyte and dendritic cell deficiency, au<strong>tostrong>somal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency 32b, monocyte and dendritic cell deficiency, au<strong>tostrong>somal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

methionine adenosyltransferase deficiency, au<strong>tostrong>somal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the methionine adenosyltransferase deficiency, au<strong>tostrong>somal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

fac<strong>tostrong>r xi deficiency, au<strong>tostrong>somal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the fac<strong>tostrong>r xi deficiency, au<strong>tostrong>somal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

phosphorylase kinase deficiency of liver and muscle, au<strong>tostrong>somal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the phosphorylase kinase deficiency of liver and muscle, au<strong>tostrong>somal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

Neuraminidase deficiency with beta-galac<strong>tostrong>sidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Neuraminidase deficiency with beta-galac<strong>tostrong>sidase 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 Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s 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.

anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene Set

From 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 Set

From 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.

anemia, iron-deficiency; hemochroma<strong>tostrong>sis; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochroma<strong>tostrong>sis; 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 Set

From 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; psychomo<strong>tostrong>r disorders; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomo<strong>tostrong>r 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 Set

From 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 Set

From 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.

folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene Set

From 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 Set

From 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.

anemia, iron-deficiency; hemochroma<strong>tostrong>sis; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochroma<strong>tostrong>sis; 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 Set

From 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 Set

From Reactome Pathways

<strong>proteinstrong>s participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reac<strong>tostrong>me Pathways dataset.

Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Set

From Reactome Pathways

<strong>proteinstrong>s participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reac<strong>tostrong>me Pathways dataset.

Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Set

From Reactome Pathways

<strong>proteinstrong>s participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reac<strong>tostrong>me Pathways dataset.

<strong>Thrombophiliastrong>, histidine-rich glyco<strong>proteinstrong>-related Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the <strong>Thrombophiliastrong>, histidine-rich glyco<strong>proteinstrong>-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

<strong>Thrombophiliastrong> Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease <strong>Thrombophiliastrong> from the curated CTD Gene-Disease Associations dataset.

<strong>Thrombophiliastrong>, hereditary Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease <strong>Thrombophiliastrong>, hereditary from the curated CTD Gene-Disease Associations dataset.

<strong>thrombophiliastrong> Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease <strong>thrombophiliastrong> from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

<strong>thrombophiliastrong> Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

genes associated with the disease <strong>thrombophiliastrong> in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

<strong>thrombophiliastrong> Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

blood platelet disorders; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood platelet disorders; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; hyperhomocysteinemia; pulmonary embolism; pulmonary embolisms; syndrome; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; hyperhomocysteinemia; pulmonary embolism; pulmonary embolisms; syndrome; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus; hypercholesterolemia; hyperhomocysteinemia; hypertension; retinal vein occlusion; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus; hypercholesterolemia; hyperhomocysteinemia; hypertension; retinal vein occlusion; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, sickle cell; beta-thalassemia; sickle cell trait; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sickle cell; beta-thalassemia; sickle cell trait; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

femur head necrosis; hyperhomocysteinemia; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease femur head necrosis; hyperhomocysteinemia; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pulmonary embolism; pulmonary embolisms; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pulmonary embolism; pulmonary embolisms; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; hyperhomocysteinemia; stroke; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; hyperhomocysteinemia; stroke; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abruptio placentae; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abruptio placentae; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atherosclerosis; hyperlipidemias; hypertension; optic neuropathy, ischemic; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atherosclerosis; hyperlipidemias; hypertension; optic neuropathy, ischemic; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pulmonary embolism; pulmonary embolisms; thromboembolism; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pulmonary embolism; pulmonary embolisms; thromboembolism; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mesenteric vascular occlusion; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mesenteric vascular occlusion; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

<strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, sickle cell; beta thalassemia; beta-thalassemia; sickle cell anemia; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sickle cell; beta thalassemia; beta-thalassemia; sickle cell anemia; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio; placenta diseases; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio; placenta diseases; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

intracranial thrombosis; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease intracranial thrombosis; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal death; hyperhomocysteinemia; pregnancy complications, hema<strong>tostrong>logic; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal death; hyperhomocysteinemia; pregnancy complications, hema<strong>tostrong>logic; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

<strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

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

recurrence; <strong>thrombophiliastrong>; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease recurrence; <strong>thrombophiliastrong>; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; brain ischemia; stroke; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; brain ischemia; stroke; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

<strong>thrombophiliastrong>; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease <strong>thrombophiliastrong>; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

colonic polyps; gastrointestinal diseases; inflamma<strong>tostrong>ry bowel disease, nos; inflamma<strong>tostrong>ry bowel diseases; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colonic polyps; gastrointestinal diseases; inflamma<strong>tostrong>ry bowel disease, nos; inflamma<strong>tostrong>ry bowel diseases; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neoplasms; <strong>thrombophiliastrong>; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neoplasms; <strong>thrombophiliastrong>; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperhomocysteinemia; <strong>thrombophiliastrong>; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperhomocysteinemia; <strong>thrombophiliastrong>; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antiphospholipid syndrome; arterial occlusive diseases; blood coagulation disorders, inherited; cardiomyopathy, dilated; heart defects, congenital; heart diseases; <strong>thrombophiliastrong>; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antiphospholipid syndrome; arterial occlusive diseases; blood coagulation disorders, inherited; cardiomyopathy, dilated; heart defects, congenital; heart diseases; <strong>thrombophiliastrong>; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; pregnancy complications, hema<strong>tostrong>logic; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; pregnancy complications, hema<strong>tostrong>logic; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abruptio placentae; fetal growth retardation; pre-eclampsia; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abruptio placentae; fetal growth retardation; pre-eclampsia; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

behcet syndrome; <strong>thrombophiliastrong>; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease behcet syndrome; <strong>thrombophiliastrong>; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hemophilia a; hemophilia b; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hemophilia a; hemophilia b; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial fibrillation; thromboembolism; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial fibrillation; thromboembolism; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; <strong>thrombophiliastrong>; <strong>tostrong>bacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; <strong>thrombophiliastrong>; <strong>tostrong>bacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders; osteonecrosis; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders; osteonecrosis; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; pre-eclampsia; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; pre-eclampsia; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abortion, habitual; abortion, spontaneous; obstetric labor complications; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abortion, habitual; abortion, spontaneous; obstetric labor complications; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

premature birth; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease premature birth; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myeloproliferative disorders; <strong>thrombophiliastrong>; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myeloproliferative disorders; <strong>thrombophiliastrong>; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperhomocysteinemia; retinal vein occlusion; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperhomocysteinemia; retinal vein occlusion; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertension, pregnancy-induced; pre-eclampsia; <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertension, pregnancy-induced; pre-eclampsia; <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

deep vein <strong>thrombophiliastrong> Gene Set

From GAD Gene-Disease Associations

genes associated with the disease deep vein <strong>thrombophiliastrong> in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atherosclerosis; pregnancy complications, cardiovascular; pregnancy complications, hema<strong>tostrong>logic; retinal artery occlusion; retinal vein occlusion; <strong>thrombophiliastrong>; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atherosclerosis; pregnancy complications, cardiovascular; pregnancy complications, hema<strong>tostrong>logic; retinal artery occlusion; retinal vein occlusion; <strong>thrombophiliastrong>; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal growth retardation; intrauterine growth retardation; pregn