Name

hypoaldosteronism, congenital, due to cmo ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, due to cmo ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoaldosteronism, congenital, due to cmo i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, due to cmo i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset.

Hypoaldosteronism Gene Set

From CTD Gene-Disease Associations

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

cmo Gene Set

From GeneRIF Biological Term Annotations

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

hypoaldosteronism Gene Set

From HPO Gene-Disease Associations

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

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset.

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

muscular dystrophy, congenital, due to partial lama2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, due to partial lama2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, congenital, due to itga7 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, due to itga7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

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/proteins associated with the disease THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN from the curated CTD Gene-Disease Associations dataset.

congenital heart defects; folic acid deficiency; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; folic acid deficiency; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene Set

From GAD Gene-Disease Associations

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

activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SCID due to ADA deficiency, delayed onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gaucher disease, atypical, due to saposin C deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocysteinemia due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermethioninemia due to adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, severe, due to leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylate kinase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From CTD Gene-Disease Associations

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

Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset.

Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

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

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset.

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Krabbe Disease, Atypical, due to Saposin A Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset.

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.

Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset.

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

Metachromatic Leukodystrophy due to Saposin B Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Metachromatic Leukodystrophy due to Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset.

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

{chronic infections, due to mbl deficiency} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {chronic infections, due to mbl deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to hrg deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to hrg deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to il2 deficiency Gene Set

From OMIM Gene-Disease Associations

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

thrombophilia due to protein s deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to phosphofructokinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to phosphofructokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

nephropathy due to cfhr5 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the nephropathy due to cfhr5 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein s deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease, autosomal, due to deficiency of cyba Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease, autosomal, due to deficiency of cyba phenotype from the curated OMIM Gene-Disease Associations dataset.

?isolated growth hormone deficiency due to defect in ghrf Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to heparin cofactor ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to heparin cofactor ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, morbid, due to leptin receptor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, morbid, due to leptin receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

glucocorticoid deficiency, due to acth unresponsiveness Gene Set

From OMIM Gene-Disease Associations

genes associated with the glucocorticoid deficiency, due to acth unresponsiveness phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to glutathione peroxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione peroxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein c deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein c deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

lacticacidemia due to pdx1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the lacticacidemia due to pdx1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, hemolytic, due to umph1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the anemia, hemolytic, due to umph1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

homocystinuria due to mthfr deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the homocystinuria due to mthfr deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to ada deficiency Gene Set

From OMIM Gene-Disease Associations

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

leigh syndrome due to mitochondrial complex i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial complex i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein c deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein c deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

cirrhosis due to liver phosphorylase kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the cirrhosis due to liver phosphorylase kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

metachromatic leukodystrophy due to sap-b deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the metachromatic leukodystrophy due to sap-b deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, morbid, due to leptin deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, morbid, due to leptin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome, due to cox deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome, due to cox deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

growth retardation with deafness and mental retardation due to igf1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the growth retardation with deafness and mental retardation due to igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperammonemia due to carbonic anhydrase va deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperammonemia due to carbonic anhydrase va deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to g6pd deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to g6pd deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to glutathione synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

bare lymphocyte syndrome, type i, due to tap2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the bare lymphocyte syndrome, type i, due to tap2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to adenylate kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to adenylate kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to glutathione reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

emphysema due to aat deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the emphysema due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, adrenal insufficiency, and red hair due to pomc deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, adrenal insufficiency, and red hair due to pomc deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to antithrombin iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to antithrombin iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

erythrocytosis due to bisphosphoglycerate mutase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the erythrocytosis due to bisphosphoglycerate mutase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

aica-ribosiduria due to atic deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the aica-ribosiduria due to atic deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to mitochondrial cox4 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial cox4 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease due to deficiency of ncf-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease due to deficiency of ncf-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease due to deficiency of ncf-1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease due to deficiency of ncf-1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypermethioninemia due to adenosine kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia due to adenosine kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

dystonia, dopa-responsive, due to sepiapterin reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the dystonia, dopa-responsive, due to sepiapterin reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to cytochrome c oxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to cytochrome c oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

pyogenic bacterial infections, recurrent, due to myd88 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyogenic bacterial infections, recurrent, due to myd88 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

neurodegeneration due to cerebral folate transport deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the neurodegeneration due to cerebral folate transport deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to ficolin 3 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to ficolin 3 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to mitochondrial complex 1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial complex 1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to triosephosphate isomerase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to triosephosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

{resistance to malaria due to g6pd deficiency} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {resistance to malaria due to g6pd deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to hexokinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to hexokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy due to cpt ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy due to cpt ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

emphysema-cirrhosis, due to aat deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the emphysema-cirrhosis, due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

?male infertility due to acrosin deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?male infertility due to acrosin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy due to myoadenylate deaminase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy due to myoadenylate deaminase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) Gene Set

From Reactome Pathways

proteins participating in the Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) pathway from the Reactome Pathways dataset.

congenital heart defects; heart defects, congenital; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal hyperplasia, congenital; congenital adrenal hyperplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia Gene Set

From GAD Gene-Disease Associations

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

congenital heart defects; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; ventricular outflow obstruction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; ventricular outflow obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; nervous system diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; nervous system diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body weight; congenital heart defects; growth disorders; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body weight; congenital heart defects; growth disorders; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; down syndrome; heart defects, congenital; heart septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; down syndrome; heart defects, congenital; heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LIPOPROTEIN(a) DEFICIENCY, CONGENITAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital lactase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital lactase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anti-plasmin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anti-plasmin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prothrombin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Prothrombin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutamine deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutamine deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lactase Deficiency, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lactase Deficiency, Congenital from the curated CTD Gene-Disease Associations dataset.

Anti-plasmin deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

Sucrase-isomaltase deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sucrase-isomaltase deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

PROTHROMBIN DEFICIENCY, CONGENITAL Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PROTHROMBIN DEFICIENCY, CONGENITAL from the curated CTD Gene-Disease Associations dataset.

Glutamine deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutamine deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

congenital intrinsic factor deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital intrinsic factor deficiency. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital intrinsic factor deficiency. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital haptoglobin deficiency Gene Set

From GAD Gene-Disease Associations

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

myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

[lpa deficiency, congenital] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [lpa deficiency, congenital] phenotype from the curated OMIM Gene-Disease Associations dataset.

clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

lactase deficiency, congenital Gene Set

From OMIM Gene-Disease Associations

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

myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

glutamine deficiency, congenital Gene Set

From OMIM Gene-Disease Associations

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

sucrase-isomaltase deficiency, congenital Gene Set

From OMIM Gene-Disease Associations

genes associated with the sucrase-isomaltase deficiency, congenital phenotype from the curated OMIM Gene-Disease Associations dataset.

Neuraminidase deficiency with beta-galactosidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset.

eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene 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.

activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene Set

From GAD Gene-Disease Associations

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

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

choline deficiency; dna damage; folic acid deficiency Gene 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; psychomotor 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; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene 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.

protein c deficiency; protein s deficiency; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene 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.

neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

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

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene 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

proteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset.

Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset.

Megaloblastic anemia due to inborn errors of metabolism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to inborn errors of metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to activated protein C resistance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to activated protein C resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to thrombomodulin defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to thrombomodulin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to defect in cd3-zeta Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to defect in cd3-zeta phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, X-Linked, Due To Factor Ix Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia, X-Linked, Due To Factor Ix Defect from the curated CTD Gene-Disease Associations dataset.

Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type from the curated CTD Gene-Disease Associations dataset.

METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT from the curated CTD Gene-Disease Associations dataset.

Pseudohyperkalemia, Familial, 2, due to Red Cell Leak Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pseudohyperkalemia, Familial, 2, due to Red Cell Leak from the curated CTD Gene-Disease Associations dataset.

HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION from the curated CTD Gene-Disease Associations dataset.

Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset.

Thrombophilia Due To Elevated Histidine-Rich Glycoprotein Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia Due To Elevated Histidine-Rich Glycoprotein from the curated CTD Gene-Disease Associations dataset.

Thrombophilia due to Activated Protein C Resistance Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia due to Activated Protein C Resistance from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency due to Defect in CD3-Zeta Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency due to Defect in CD3-Zeta from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency due to Defect in MAPBP-Interacting Protein from the curated CTD Gene-Disease Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 1 from the curated CTD Gene-Disease Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 2 from the curated CTD Gene-Disease Associations dataset.

thrombocytopenia due to platelet alloimmunization Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease thrombocytopenia due to platelet alloimmunization in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

pneumoconiosis due to talc Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease pneumoconiosis due to talc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

hereditary spastic paraparesis due to a frame shift mutat Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hereditary spastic paraparesis due to a frame shift mutat in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

depressed suicide; suicide due to depression Gene Set

From GAD Gene-Disease Associations

genes associated with the disease depressed suicide; suicide due to depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

due Gene Set

From GeneRIF Biological Term Annotations

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

anemia due to reduced life span of red cells Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the anemia due to reduced life span of red cells phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

decreased cervical spine flexion due to contractures of posterior cervical muscles Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased cervical spine flexion due to contractures of posterior cervical muscles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

anemia due to reduced life span of red cells Gene Set

From HPO Gene-Disease Associations

genes associated with the anemia due to reduced life span of red cells phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

restricted neck movement due to contractures Gene Set

From HPO Gene-Disease Associations

genes associated with the restricted neck movement due to contractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

chronic rhinitis due to narrow nasal airway Gene Set

From HPO Gene-Disease Associations

genes associated with the chronic rhinitis due to narrow nasal airway phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteomyelitis due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

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

osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) Gene Set

From HPO Gene-Disease Associations

genes associated with the osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bowing of limbs due to multiple fractures Gene Set

From HPO Gene-Disease Associations

genes associated with the bowing of limbs due to multiple fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

respiratory insufficiency due to muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteomyelitis leading to amputation due to slow healing fractures Gene Set

From HPO Gene-Disease Associations

genes associated with the osteomyelitis leading to amputation due to slow healing fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

weakness due to upper motor neuron dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the weakness due to upper motor neuron dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

self-mutilation of tongue and lips due to involuntary movements Gene Set

From HPO Gene-Disease Associations

genes associated with the self-mutilation of tongue and lips due to involuntary movements phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

respiratory insufficiency due to defective ciliary clearance Gene Set

From HPO Gene-Disease Associations

genes associated with the respiratory insufficiency due to defective ciliary clearance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

recurrent infections due to aspiration Gene Set

From HPO Gene-Disease Associations

genes associated with the recurrent infections due to aspiration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

generalized hypotonia due to defect at the neuromuscular junction Gene Set

From HPO Gene-Disease Associations

genes associated with the generalized hypotonia due to defect at the neuromuscular junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

chronic hepatitis due to cryptospridium infection Gene Set

From HPO Gene-Disease Associations

genes associated with the chronic hepatitis due to cryptospridium infection phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

subperiosteal erosions due to secondary hyperparathyroidism Gene Set

From HPO Gene-Disease Associations

genes associated with the subperiosteal erosions due to secondary hyperparathyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

painless fractures due to injury Gene Set

From HPO Gene-Disease Associations

genes associated with the painless fractures due to injury phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hepatic abscesses due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

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

cellulitis due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

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

decreased sweating due to autonomic dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased sweating due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

intermittent episodes of respiratory insufficiency due to muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the intermittent episodes of respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

orthostatic hypotension due to autonomic dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the orthostatic hypotension due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

{hepatic fibrosis susceptibility due to schistosoma mansoni infection} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hepatic fibrosis susceptibility due to schistosoma mansoni infection} phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to thrombomodulin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to thrombomodulin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

bleeding disorder due to p2rx1 defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the bleeding disorder due to p2rx1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.

encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Gene Set

From OMIM Gene-Disease Associations

genes associated with the encephalopahty, lethal, due to defective mitochondrial peroxisomal fission phenotype from the curated OMIM Gene-Disease Associations dataset.

hypercholesterolemia, due to ligand-defective apo b Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypercholesterolemia, due to ligand-defective apo b phenotype from the curated OMIM Gene-Disease Associations dataset.

disordered steroidogenesis due to cytochrome p450 oxidoreductase Gene Set

From OMIM Gene-Disease Associations

genes associated with the disordered steroidogenesis due to cytochrome p450 oxidoreductase phenotype from the curated OMIM Gene-Disease Associations dataset.

hemorrhagic diathesis due to 'antithrombin' pittsburgh Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemorrhagic diathesis due to 'antithrombin' pittsburgh phenotype from the curated OMIM Gene-Disease Associations dataset.

omphalocele due to duplication of 1p31.3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the omphalocele due to duplication of 1p31.3 phenotype from the curated OMIM Gene-Disease Associations dataset.

gigantism due to ghrf hypersecretion Gene Set

From OMIM Gene-Disease Associations

genes associated with the gigantism due to ghrf hypersecretion phenotype from the curated OMIM Gene-Disease Associations dataset.

pseudohyperkalemia, familial, 2, due to red cell leak Gene Set

From OMIM Gene-Disease Associations

genes associated with the pseudohyperkalemia, familial, 2, due to red cell leak phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia, familial, due to decreased release of plat Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia, familial, due to decreased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset.

macrocytic anemia, refractory, due to 5q deletion, somatic Gene Set

From OMIM Gene-Disease Associations

genes associated with the macrocytic anemia, refractory, due to 5q deletion, somatic phenotype from the curated OMIM Gene-Disease Associations dataset.

{hypercholesterolemia, familial, due to ldlr defect, modifier of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hypercholesterolemia, familial, due to ldlr defect, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.

{drug-induced liver injury due to flucloxacillin} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {drug-induced liver injury due to flucloxacillin} phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to activated protein c resistance Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to activated protein c resistance phenotype from the curated OMIM Gene-Disease Associations dataset.

?male pseudohermaphroditism due to defective lh Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?male pseudohermaphroditism due to defective lh phenotype from the curated OMIM Gene-Disease Associations dataset.

hydrocephalus due to aqueductal stenosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the hydrocephalus due to aqueductal stenosis phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to elevated hrg Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to elevated hrg phenotype from the curated OMIM Gene-Disease Associations dataset.

thalassemia due to hb lepore Gene Set

From OMIM Gene-Disease Associations

genes associated with the thalassemia due to hb lepore phenotype from the curated OMIM Gene-Disease Associations dataset.

rickets due to defect in vitamin d 25-hydroxylation Gene Set

From OMIM Gene-Disease Associations

genes associated with the rickets due to defect in vitamin d 25-hydroxylation phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria due to transcobalamin receptor defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria due to transcobalamin receptor defect phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia, x-linked, due to factor ix defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia, x-linked, due to factor ix defect phenotype from the curated OMIM Gene-Disease Associations dataset.

{thrombophilia, susceptibility to, due to factor v leiden} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {thrombophilia, susceptibility to, due to factor v leiden} phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to defect in mapbp-interacting protein Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to defect in mapbp-interacting protein phenotype from the curated OMIM Gene-Disease Associations dataset.

goiter, familial, due to ttf-1 defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the goiter, familial, due to ttf-1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to thrombin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to thrombin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperfibrinolysis, familial, due to increased release of plat Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperfibrinolysis, familial, due to increased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset.

hemosiderosis, systemic, due to aceruloplasminemia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemosiderosis, systemic, due to aceruloplasminemia phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type phenotype from the curated OMIM Gene-Disease Associations dataset.

Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) pathway from the Wikipathways Pathways dataset.

Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital myotonia, autosomal dominant form Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital myotonia, autosomal dominant form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital adrenal hyperplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital adrenal hyperplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital human immunodeficiency virus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital human immunodeficiency virus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diarrhea 5, with tufting enteropathy, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diarrhea 5, with tufting enteropathy, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vertical talus, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vertical talus, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital generalized lipodystrophy type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital generalized lipodystrophy type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycogen storage disease IV, congenital neuromuscular Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycogen storage disease IV, congenital neuromuscular phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Facial paresis, hereditary congenital, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Facial paresis, hereditary congenital, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital glucose-galactose malabsorption Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital glucose-galactose malabsorption phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital sensory neuropathy with selective loss of small myelinated fibers Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital sensory neuropathy with selective loss of small myelinated fibers phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, actin, congenital, with cores Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, actin, congenital, with cores phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aphakia, congenital primary Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aphakia, congenital primary phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lipodystrophy, congenital generalized, type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lipodystrophy, congenital generalized, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital contractural arachnodactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital contractural arachnodactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital absence of salivary gland Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital absence of salivary gland phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Merosin deficient congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Merosin deficient congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nystagmus 6, congenital, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nystagmus 6, congenital, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, autosomal dominant 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, autosomal dominant 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Afibrinogenemia, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Afibrinogenemia, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, congenital heart defects, and posterior embryotoxon Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Walker-Warburg congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Walker-Warburg congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibrosis of extraocular muscles, congenital, 3b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibrosis of extraocular muscles, congenital, 3b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital amegakaryocytic thrombocytopenia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital amegakaryocytic thrombocytopenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, fast-channel Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, fast-channel phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, autosomal recessive congenital 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, autosomal recessive congenital 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diarrhea 3, secretory sodium, congenital, syndromic Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diarrhea 3, secretory sodium, congenital, syndromic phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 3, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital dyserythropoietic anemia, type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital dyserythropoietic anemia, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital adrenal hypoplasia, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital adrenal hypoplasia, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lethal congenital contracture syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital secretory diarrhea, chloride type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital secretory diarrhea, chloride type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypomyelination and Congenital Cataract Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypomyelination and Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibrosis of extraocular muscles, congenital, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibrosis of extraocular muscles, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibrosis of extraocular muscles, congenital, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibrosis of extraocular muscles, congenital, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Testicular anomalies with or without congenital heart disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Testicular anomalies with or without congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital short bowel syndrome, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital short bowel syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital heart disease, multiple types, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital heart disease, multiple types, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, slow-channel congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, slow-channel congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Indifference to pain, congenital, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Indifference to pain, congenital, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, autosomal dominant 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, autosomal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lethal congenital contractural syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal congenital contractural syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital heart defects, multiple types, 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital heart defects, multiple types, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital erythropoietic porphyria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital erythropoietic porphyria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

congenital neutropenia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypothyroidism, congenital, nongoitrous, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypothyroidism, congenital, nongoitrous, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypothyroidism, congenital, nongoitrous, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypothyroidism, congenital, nongoitrous, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypothyroidism, congenital, nongoitrous, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypothyroidism, congenital, nongoitrous, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1s Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1s phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1L Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1L phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, actin, congenital, with excess of thin myofilaments Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, actin, congenital, with excess of thin myofilaments phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple congenital anomalies-hypotonia-seizures syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rett syndrome, congenital variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rett syndrome, congenital variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Eichsfeld type congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Eichsfeld type congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 2B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 2C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 2J Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 2J phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 2L Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 2L phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 2k Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 2k phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, congenital, with excess of muscle spindles Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, congenital, with excess of muscle spindles phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital myotonia, autosomal recessive form Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital myotonia, autosomal recessive form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1Q Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1Q phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1P Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1P phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1H Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1H phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, with tubular aggregates 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, with tubular aggregates 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1N Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1N phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Finnish congenital nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Finnish congenital nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bile acid synthesis defect, congenital, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bile acid synthesis defect, congenital, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bile acid synthesis defect, congenital, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bile acid synthesis defect, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1F Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1v Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1v phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, congenital nuclear, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, congenital nuclear, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, congenital nuclear, autosomal recessive 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, congenital nuclear, autosomal recessive 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepiphyseal dysplasia with congenital joint dislocations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepiphyseal dysplasia with congenital joint dislocations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adult i Blood Group with or without Congenital Cataract Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adult i Blood Group with or without Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, congenital, compton-north Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, congenital, compton-north phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the T-cell immunodeficiency, congenital alopecia and nail dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital cystic disease of liver Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital cystic disease of liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pancreatic agenesis and congenital heart disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pancreatic agenesis and congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type Ix Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type Ix phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital order of glycosylation type 1r Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital order of glycosylation type 1r phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ullrich congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ullrich congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital dyserythropoietic anemia, type II Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital dyserythropoietic anemia, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neuropathy, congenital hypomyelinating, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy, congenital hypomyelinating, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 2B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 2A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital central hypoventilation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital central hypoventilation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital ocular coloboma Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital ocular coloboma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1K Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1K phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1J Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1O Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1O phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1E Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1D Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1G Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1y Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1y phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Digital clubbing, isolated congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Digital clubbing, isolated congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1u Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1u phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1t Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1t phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital defect of folate absorption Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital defect of folate absorption phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 4, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lethal congenital contracture syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal congenital contracture syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital aniridia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital aniridia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital long QT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital hyperammonemia, type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital hyperammonemia, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple congenital exostosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple congenital exostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital microvillous atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital microvillous atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Partial congenital absence of teeth Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Partial congenital absence of teeth phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 1C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 1A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 1F Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 1E Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 4A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 4A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 4B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital myasthenic syndrome, acetazolamide-responsive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital myasthenic syndrome, acetazolamide-responsive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glaucoma, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glaucoma, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital Cataracts, Facial Dysmorphism, and Neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital Cataracts, Facial Dysmorphism, and Neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular hypertrophy-cerebral syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular hypertrophy-cerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital Stromal Corneal Dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital Stromal Corneal Dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital myopathy with fiber type disproportion Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital myopathy with fiber type disproportion phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital Hyperinsulinism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Hyperinsulinism from the curated CTD Gene-Disease Associations dataset.

Cataract congenital Volkmann type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract congenital Volkmann type from the curated CTD Gene-Disease Associations dataset.

Congenital Hypothyroidism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Hypothyroidism from the curated CTD Gene-Disease Associations dataset.

Congenital bilateral aplasia of vas deferens Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital bilateral aplasia of vas deferens from the curated CTD Gene-Disease Associations dataset.

Congenital Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Abnormalities from the curated CTD Gene-Disease Associations dataset.

Anemia, Hemolytic, Congenital Nonspherocytic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Hemolytic, Congenital Nonspherocytic from the curated CTD Gene-Disease Associations dataset.

Night Blindness, Congenital Stationary, Autosomal Dominant 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Night Blindness, Congenital Stationary, Autosomal Dominant 3 from the curated CTD Gene-Disease Associations dataset.

Hypothyroidism, Congenital, Nongoitrous, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 4 from the curated CTD Gene-Disease Associations dataset.

Leber Congenital Amaurosis 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leber Congenital Amaurosis 4 from the curated CTD Gene-Disease Associations dataset.

Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia from the curated CTD Gene-Disease Associations dataset.

Congenital idiopathic intestinal pseudoobstruction Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital idiopathic intestinal pseudoobstruction from the curated CTD Gene-Disease Associations dataset.

Vertical talus, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vertical talus, congenital from the curated CTD Gene-Disease Associations dataset.

Nystagmus 1, congenital, X- linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nystagmus 1, congenital, X- linked from the curated CTD Gene-Disease Associations dataset.

Facial paresis, hereditary, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Facial paresis, hereditary, congenital from the curated CTD Gene-Disease Associations dataset.

Congenital anosmia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital anosmia from the curated CTD Gene-Disease Associations dataset.

Hypothyroidism, Congenital, Nongoitrous, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 5 from the curated CTD Gene-Disease Associations dataset.

Hyperferritinemia, hereditary, with congenital cataracts Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hyperferritinemia, hereditary, with congenital cataracts from the curated CTD Gene-Disease Associations dataset.

Ichthyosiform erythroderma, Brocq congenital, nonbullous form Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ichthyosiform erythroderma, Brocq congenital, nonbullous form from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Dominant 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset.

Hernias, Diaphragmatic, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hernias, Diaphragmatic, Congenital from the curated CTD Gene-Disease Associations dataset.

Congenital Disorder Of Glycosylation, Type IIF Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIF from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1A from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation, type 2C Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation, type 2C from the curated CTD Gene-Disease Associations dataset.

Lethal Congenital Contracture Syndrome 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lethal Congenital Contracture Syndrome 2 from the curated CTD Gene-Disease Associations dataset.

Aphakia, congenital primary Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aphakia, congenital primary from the curated CTD Gene-Disease Associations dataset.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset.

Nystagmus 2, congenital, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nystagmus 2, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Hypothyroidism, Congenital, Nongoitrous, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 3 from the curated CTD Gene-Disease Associations dataset.

Congenital contractural arachnodactyly Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital contractural arachnodactyly from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 2D Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 2D from the curated CTD Gene-Disease Associations dataset.

Nystagmus 4, congenital, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nystagmus 4, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects from the curated CTD Gene-Disease Associations dataset.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq from the curated CTD Gene-Disease Associations dataset.

Muscular dystrophy congenital, merosin negative Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular dystrophy congenital, merosin negative from the curated CTD Gene-Disease Associations dataset.

Indifference to Pain, Congenital, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Indifference to Pain, Congenital, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Ptosis, Hereditary Congenital 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ptosis, Hereditary Congenital 1 from the curated CTD Gene-Disease Associations dataset.

Pain Insensitivity, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pain Insensitivity, Congenital from the curated CTD Gene-Disease Associations dataset.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi from the curated CTD Gene-Disease Associations dataset.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1G Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1G from the curated CTD Gene-Disease Associations dataset.

Congenital amegakaryocytic thrombocytopenia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital amegakaryocytic thrombocytopenia from the curated CTD Gene-Disease Associations dataset.

Adrenal Hyperplasia, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adrenal Hyperplasia, Congenital from the curated CTD Gene-Disease Associations dataset.

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B from the curated CTD Gene-Disease Associations dataset.

Anemia, Hypoplastic, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Hypoplastic, Congenital from the curated CTD Gene-Disease Associations dataset.

Congenital Cataracts, Facial Dysmorphism, And Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Cataracts, Facial Dysmorphism, And Neuropathy from the curated CTD Gene-Disease Associations dataset.

Lipodystrophy, Congenital Generalized Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipodystrophy, Congenital Generalized from the curated CTD Gene-Disease Associations dataset.

Congenital hypertrichosis lanuginosa Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital hypertrichosis lanuginosa from the curated CTD Gene-Disease Associations dataset.

Leber Congenital Amaurosis 10 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leber Congenital Amaurosis 10 from the curated CTD Gene-Disease Associations dataset.

Hypothyroidism, Congenital, Nongoitrous, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 2 from the curated CTD Gene-Disease Associations dataset.

Myopathy, Congenital, Compton-North Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Congenital, Compton-North from the curated CTD Gene-Disease Associations dataset.

Leber Congenital Amaurosis 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leber Congenital Amaurosis 3 from the curated CTD Gene-Disease Associations dataset.

Congenital Disorder of Glycosylation, Type Io Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Disorder of Glycosylation, Type Io from the curated CTD Gene-Disease Associations dataset.

Congenital central hypoventilation syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital central hypoventilation syndrome from the curated CTD Gene-Disease Associations dataset.

Congenital Disorder Of Glycosylation, Type Im Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type Im from the curated CTD Gene-Disease Associations dataset.

Congenital Disorder Of Glycosylation, Type In Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type In from the curated CTD Gene-Disease Associations dataset.

Cataract, Congenital Zonular, with Sutural Opacities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Congenital Zonular, with Sutural Opacities from the curated CTD Gene-Disease Associations dataset.

Lethal congenital contracture syndrome 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lethal congenital contracture syndrome 1 from the curated CTD Gene-Disease Associations dataset.

Microcoria, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcoria, congenital from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 from the curated CTD Gene-Disease Associations dataset.

Anemia, Hemolytic, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Hemolytic, Congenital from the curated CTD Gene-Disease Associations dataset.

Bile acid synthesis defect, congenital, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile acid synthesis defect, congenital, 2 from the curated CTD Gene-Disease Associations dataset.

Bile acid synthesis defect, congenital, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile acid synthesis defect, congenital, 4 from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, 1B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, 1B from the curated CTD Gene-Disease Associations dataset.

Leber Congenital Amaurosis 14 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leber Congenital Amaurosis 14 from the curated CTD Gene-Disease Associations dataset.

ADRENAL HYPOPLASIA, CONGENITAL Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ADRENAL HYPOPLASIA, CONGENITAL from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1H Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1H from the curated CTD Gene-Disease Associations dataset.

Ptosis, Hereditary Congenital 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ptosis, Hereditary Congenital 2 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 from the curated CTD Gene-Disease Associations dataset.

Diarrhea 4, Malabsorptive, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diarrhea 4, Malabsorptive, Congenital from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1J Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1J from the curated CTD Gene-Disease Associations dataset.

CAPILLARY MALFORMATIONS, CONGENITAL Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CAPILLARY MALFORMATIONS, CONGENITAL from the curated CTD Gene-Disease Associations dataset.

Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1B from the curated CTD Gene-Disease Associations dataset.

Nephrosis, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nephrosis, congenital from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Dominant 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset.

GLAUCOMA 3, PRIMARY CONGENITAL, C Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GLAUCOMA 3, PRIMARY CONGENITAL, C from the curated CTD Gene-Disease Associations dataset.

Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 2A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 2A from the curated CTD Gene-Disease Associations dataset.

ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 2E Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 2E from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Merosin-Positive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Merosin-Positive from the curated CTD Gene-Disease Associations dataset.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip from the curated CTD Gene-Disease Associations dataset.

Myopathies, Structural, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathies, Structural, Congenital from the curated CTD Gene-Disease Associations dataset.

Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism from the curated CTD Gene-Disease Associations dataset.

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 from the curated CTD Gene-Disease Associations dataset.

Bile acid synthesis defect, congenital, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile acid synthesis defect, congenital, 1 from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1F Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1F from the curated CTD Gene-Disease Associations dataset.

Cataract, Autosomal Recessive Congenital 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Autosomal Recessive Congenital 3 from the curated CTD Gene-Disease Associations dataset.

Congenital myasthenic syndrome with episodic apnea Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital myasthenic syndrome with episodic apnea from the curated CTD Gene-Disease Associations dataset.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj from the curated CTD Gene-Disease Associations dataset.

Preauricular Fistulae, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Preauricular Fistulae, Congenital from the curated CTD Gene-Disease Associations dataset.

Leber Congenital Amaurosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leber Congenital Amaurosis from the curated CTD Gene-Disease Associations dataset.

Lower Extremity Deformities, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lower Extremity Deformities, Congenital from the curated CTD Gene-Disease Associations dataset.

Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset.

NYSTAGMUS 5, CONGENITAL, X-LINKED Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NYSTAGMUS 5, CONGENITAL, X-LINKED from the curated CTD Gene-Disease Associations dataset.

Night blindness, congenital stationary Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Night blindness, congenital stationary from the curated CTD Gene-Disease Associations dataset.

Fibrosis of Extraocular Muscles, Congenital, 3B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibrosis of Extraocular Muscles, Congenital, 3B from the curated CTD Gene-Disease Associations dataset.

Congenital myasthenic syndrome ib Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital myasthenic syndrome ib from the curated CTD Gene-Disease Associations dataset.

Polycythemia, primary familial and congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycythemia, primary familial and congenital from the curated CTD Gene-Disease Associations dataset.

Marie Unna congenital hypotrichosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Marie Unna congenital hypotrichosis from the curated CTD Gene-Disease Associations dataset.

NYSTAGMUS 6, CONGENITAL, X-LINKED Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NYSTAGMUS 6, CONGENITAL, X-LINKED from the curated CTD Gene-Disease Associations dataset.

Nystagmus 3, congenital, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nystagmus 3, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails from the curated CTD Gene-Disease Associations dataset.

Leber Congenital Amaurosis 12 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leber Congenital Amaurosis 12 from the curated CTD Gene-Disease Associations dataset.

Leber Congenital Amaurosis 13 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leber Congenital Amaurosis 13 from the curated CTD Gene-Disease Associations dataset.

Congenital atransferrinemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital atransferrinemia from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type II from the curated CTD Gene-Disease Associations dataset.

Fibrosis Of Extraocular Muscles, Congenital, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibrosis Of Extraocular Muscles, Congenital, 2 from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, X-Linked from the curated CTD Gene-Disease Associations dataset.

ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR from the curated CTD Gene-Disease Associations dataset.

RETT SYNDROME, CONGENITAL VARIANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease RETT SYNDROME, CONGENITAL VARIANT from the curated CTD Gene-Disease Associations dataset.

Myasthenic syndrome, congenital, postsynaptic slow-channel Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myasthenic syndrome, congenital, postsynaptic slow-channel from the curated CTD Gene-Disease Associations dataset.

Nystagmus, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nystagmus, Congenital from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1K Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1K from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1L Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1L from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1C Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1C from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1E Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1E from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation type 1D Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation type 1D from the curated CTD Gene-Disease Associations dataset.

Myasthenic Syndromes, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myasthenic Syndromes, Congenital from the curated CTD Gene-Disease Associations dataset.

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A from the curated CTD Gene-Disease Associations dataset.

Corneal Dystrophy, Congenital Stromal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal Dystrophy, Congenital Stromal from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 from the curated CTD Gene-Disease Associations dataset.

Hand Deformities, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hand Deformities, Congenital from the curated CTD Gene-Disease Associations dataset.

LEBER CONGENITAL AMAUROSIS 15 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease LEBER CONGENITAL AMAUROSIS 15 from the curated CTD Gene-Disease Associations dataset.

Diarrhea 3, Secretory Sodium, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diarrhea 3, Secretory Sodium, Congenital from the curated CTD Gene-Disease Associations dataset.

Congenital disorder of glycosylation, type 2G Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital disorder of glycosylation, type 2G from the curated CTD Gene-Disease Associations dataset.

Limb Deformities, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Limb Deformities, Congenital from the curated CTD Gene-Disease Associations dataset.

Pancreatic Agenesis, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pancreatic Agenesis, Congenital from the curated CTD Gene-Disease Associations dataset.

Hypertrichosis congenital generalized X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypertrichosis congenital generalized X-linked from the curated CTD Gene-Disease Associations dataset.

Nail dysplasia, isolated congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nail dysplasia, isolated congenital from the curated CTD Gene-Disease Associations dataset.

Foot Deformities, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Foot Deformities, Congenital from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 from the curated CTD Gene-Disease Associations dataset.

Lethal Congenital Contractural Syndrome 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lethal Congenital Contractural Syndrome 3 from the curated CTD Gene-Disease Associations dataset.

Cataract, Congenital Nuclear, Autosomal Recessive 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset.

Heart Defects, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Defects, Congenital from the curated CTD Gene-Disease Associations dataset.

Glaucoma 3, Primary Congenital, D Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 3, Primary Congenital, D from the curated CTD Gene-Disease Associations dataset.

Glaucoma 3, Primary Congenital, A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 3, Primary Congenital, A from the curated CTD Gene-Disease Associations dataset.

Adrenal hyperplasia, congenital, type 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adrenal hyperplasia, congenital, type 5 from the curated CTD Gene-Disease Associations dataset.

Spinal Muscular Atrophy, Distal, Congenital Nonprogressive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Congenital Nonprogressive from the curated CTD Gene-Disease Associations dataset.

Cataract, congenital, with microcornea or slight microphthalmia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, congenital, with microcornea or slight microphthalmia from the curated CTD Gene-Disease Associations dataset.

Lipoid congenital adrenal hyperplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipoid congenital adrenal hyperplasia from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 from the curated CTD Gene-Disease Associations dataset.

Myasthenic Syndrome, Congenital, Fast-Channel Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myasthenic Syndrome, Congenital, Fast-Channel from the curated CTD Gene-Disease Associations dataset.

Congenital Disorder Of Glycosylation, Type IIH Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIH from the curated CTD Gene-Disease Associations dataset.

Retinal Nonattachment, Nonsyndromic Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Retinal Nonattachment, Nonsyndromic Congenital from the curated CTD Gene-Disease Associations dataset.

SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS from the curated CTD Gene-Disease Associations dataset.

Woolly hair, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Woolly hair, congenital from the curated CTD Gene-Disease Associations dataset.

Glycogen Storage Disease of Heart, Lethal Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glycogen Storage Disease of Heart, Lethal Congenital from the curated CTD Gene-Disease Associations dataset.

Cataract, Congenital Nuclear, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.

Diarrhea 5, With Tufting Enteropathy, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diarrhea 5, With Tufting Enteropathy, Congenital from the curated CTD Gene-Disease Associations dataset.

Afibrinogenemia congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Afibrinogenemia congenital from the curated CTD Gene-Disease Associations dataset.

T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease T-cell immunodeficiency, congenital alopecia and nail dystrophy from the curated CTD Gene-Disease Associations dataset.

CATARACT, CONGENITAL OR JUVENILE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CATARACT, CONGENITAL OR JUVENILE from the curated CTD Gene-Disease Associations dataset.

Night Blindness, Congenital Stationary, Autosomal Dominant 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Night Blindness, Congenital Stationary, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset.

Cataract, Congenital Nuclear, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.

Lipodystrophy, Congenital Generalized, Type 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipodystrophy, Congenital Generalized, Type 3 from the curated CTD Gene-Disease Associations dataset.

Lipodystrophy, Congenital Generalized, Type 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipodystrophy, Congenital Generalized, Type 4 from the curated CTD Gene-Disease Associations dataset.

Night Blindness, Congenital Stationary, Autosomal Dominant 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Night Blindness, Congenital Stationary, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset.

Anemia, Dyserythropoietic, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Dyserythropoietic, Congenital from the curated CTD Gene-Disease Associations dataset.

Congenital Disorder Of Glycosylation, Type IIB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIB from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset.

Hyperostosis, Cortical, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hyperostosis, Cortical, Congenital from the curated CTD Gene-Disease Associations dataset.

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B from the curated CTD Gene-Disease Associations dataset.

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C from the curated CTD Gene-Disease Associations dataset.

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Lmna-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Lmna-Related from the curated CTD Gene-Disease Associations dataset.

congenital afibrinogenemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

congenital disorder of glycosylation Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital disorder of glycosylation from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital heart disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

ullrich congenital muscular dystrophy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease ullrich congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital diaphragmatic hernia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital diaphragmatic hernia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

fukuyama congenital muscular dystrophy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease fukuyama congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital dyserythropoietic anemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital dyserythropoietic anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

severe congenital neutropenia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

congenital generalized lipodystrophy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital generalized lipodystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital hemolytic anemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital hemolytic anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital structural myopathy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital structural myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital nervous system abnormality Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital nervous system abnormality from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital hypoplastic anemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital hypoplastic anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital muscular dystrophy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital hypothyroidism Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

congenital myasthenic syndrome Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital myasthenic syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

leber congenital amaurosis Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease leber congenital amaurosis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital stationary night blindness Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital stationary night blindness from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital ichthyosiform erythroderma Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital ichthyosiform erythroderma from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

late congenital syphilis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital disorder of glycosylation Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital disorder of glycosylation type ii Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital generalized lipodystrophy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital structural myopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital nervous system abnormality Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease congenital nervous system abnormality in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

congenital afibrinogenemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital granular cell tumor Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease congenital granular cell tumor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

congenital hypogammaglobulinemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital syphilis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ullrich congenital muscular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease ullrich congenital muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

congenital heart block Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

severe congenital neutropenia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital hypoplastic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital adrenal insufficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital stationary night blindness Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease congenital stationary night blindness in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

congenital ichthyosiform erythroderma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital nonspherocytic hemolytic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease congenital nonspherocytic hemolytic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

congenital toxoplasmosis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital mesoblastic nephroma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital heart disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital dyserythropoietic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital epulis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital hemolytic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital nystagmus Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital myasthenic syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital muscular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital bile acid synthesis defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease congenital bile acid synthesis defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

congenital diaphragmatic hernia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

fukuyama congenital muscular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease fukuyama congenital muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

congenital fibrosarcoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital aphakia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cellular congenital mesoblastic nephroma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease cellular congenital mesoblastic nephroma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

primary congenital glaucoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital disorder of glycosylation type i Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital hypothyroidism Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

leber congenital amaurosis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

primary congenital glaucoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease primary congenital glaucoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arteriovenous malformations; congenital arteriovenous malformation; intracranial hemorrhages Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arteriovenous malformations; congenital arteriovenous malformation; intracranial hemorrhages in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma, primary open-angle; glaucoma, primary congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma, primary open-angle; glaucoma, primary congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

retinitis pigmentosa; leber congenital amaurosis; usher syndrome type i Gene Set

From GAD Gene-Disease Associations

genes associated with the disease retinitis pigmentosa; leber congenital amaurosis; usher syndrome type i in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital nuclear cataract Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital nuclear cataract in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital central hypoventilation syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital central hypoventilation syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

limb deformities, congenital; rothmund-thomson syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease limb deformities, congenital; rothmund-thomson syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital neutropenia Gene Set

From GAD Gene-Disease Associations

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

nephropathy, congenital obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease nephropathy, congenital obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chuvash-type congenital polycythemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chuvash-type congenital polycythemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abruptio placentae; congenital abnormalities; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pregnancy complications Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abruptio placentae; congenital abnormalities; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital fibrosis of extraocular muscles type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital fibrosis of extraocular muscles type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital adrenal hyperplasia (cah) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital adrenal hyperplasia (cah) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

phenytoin-induced congenital malformations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease phenytoin-induced congenital malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital cardiac malformations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital cardiac malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

eye diseases, hereditary; genetic diseases, x-linked; nystagmus, congenital; nystagmus, pathologic; strabismus Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eye diseases, hereditary; genetic diseases, x-linked; nystagmus, congenital; nystagmus, pathologic; strabismus 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; thrombophilia; 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; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal hyperplasia, congenital; hyperandrogenism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal hyperplasia, congenital; hyperandrogenism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital nephrosis Gene Set

From GAD Gene-Disease Associations

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

hip dislocation, congenital; joint instability Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hip dislocation, congenital; joint instability in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital thrombotic thrombocytopenic purpura Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital thrombotic thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dilatation, pathologic; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dilatation, pathologic; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip; cleft palate; congenital abnormalities Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip; cleft palate; congenital abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arteriovenous malformations; congenital arteriovenous malformation; hemorrhage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arteriovenous malformations; congenital arteriovenous malformation; hemorrhage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital megacolon; enterocolitis; hirschsprung disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital megacolon; enterocolitis; hirschsprung disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital megacolon; hirschsprung disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital megacolon; hirschsprung disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma, primary congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma, primary congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

toxoplasmosis, cerebral; toxoplasmosis, congenital; toxoplasmosis, ocular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease toxoplasmosis, cerebral; toxoplasmosis, congenital; toxoplasmosis, ocular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ullrich congenital muscular dystrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ullrich congenital muscular dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

toxoplasmosis, congenital Gene Set

From GAD Gene-Disease Associations

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

cardiomyopathies; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathies; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathy; heart anomalies, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy; heart anomalies, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal hyperplasia, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal hyperplasia, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenoma; adrenal gland neoplasms; adrenal hyperplasia, congenital; hyperplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenoma; adrenal gland neoplasms; adrenal hyperplasia, congenital; hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

isolated congenital pituitary hypoplasia and septo-optic dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease isolated congenital pituitary hypoplasia and septo-optic dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital bilateral absence of the vas deferens Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital bilateral absence of the vas deferens in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital abnormalities; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital abnormalities; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; heart septal defects, ventricular; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; heart septal defects, ventricular; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital hypothyroidism Gene Set

From GAD Gene-Disease Associations

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

abnormalities, multiple; congenital abnormalities; craniofacial abnormalities; syndrome; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; congenital abnormalities; craniofacial abnormalities; syndrome; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart anomalies, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart anomalies, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cystic kidney diseases; kidney diseases, cystic; leber congenital amaurosis; optic atrophies, hereditary; vision disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cystic kidney diseases; kidney diseases, cystic; leber congenital amaurosis; optic atrophies, hereditary; vision disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital adrenal hyperplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; heart septal defects, ventricular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

down syndrome; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital fibrosis of the extraocular muscles Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital fibrosis of the extraocular muscles in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chorioretinitis; toxoplasmosis, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chorioretinitis; toxoplasmosis, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal hyperplasia, congenital; autoimmune diseases; opportunistic infections; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal hyperplasia, congenital; autoimmune diseases; opportunistic infections; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital abnormalities; mental retardation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital abnormalities; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

wilms' tumor and congenital male genitourinary malformation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease wilms' tumor and congenital male genitourinary malformation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital and subclinical hypothyroidism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital and subclinical hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

late-onset congenital adrenal hyperplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease late-onset congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital ductus arteriosus aneurysm Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital ductus arteriosus aneurysm in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital primary hypothyroidism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital primary hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital abnormalities Gene Set

From GAD Gene-Disease Associations

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

heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital anomalies Gene Set

From GAD Gene-Disease Associations

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

congenital sick sinus syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital sick sinus syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

disease models, animal; ichthyosiform erythroderma, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease disease models, animal; ichthyosiform erythroderma, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital abnormalities; hypothyroidism; thyroid dysgenesis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital abnormalities; hypothyroidism; thyroid dysgenesis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital megacolon; hirschsprung disease; urea cycle disorders, inborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital megacolon; hirschsprung disease; urea cycle disorders, inborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ichthyosiform erythroderma, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ichthyosiform erythroderma, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hip dislocation, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hip dislocation, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

down syndrome; heart defects, congenital; hypertension, pulmonary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; heart defects, congenital; hypertension, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital anomalies; cleft lip with or without cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital anomalies; cleft lip with or without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leber congenital amaurosis and a normal ocular phenotype Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leber congenital amaurosis and a normal ocular phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital anomalies; renal disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital anomalies; renal disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; hyperhomocysteinemia; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; hyperhomocysteinemia; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital athyreosis Gene Set

From GAD Gene-Disease Associations

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

heart anomalies, congenital; pulmonary hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart anomalies, congenital; pulmonary hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital contractural arachnodactyly Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital contractural arachnodactyly in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele Gene Set

From GAD Gene-Disease Associations

genes associated with the disease thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital hypothyroidism; thyroid dysgenesis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital hypothyroidism; thyroid dysgenesis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; spinal dysraphism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; spinal dysraphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

double outlet right ventricle; heart defects, congenital; pulmonary atresia; tetralogy of fallot; transposition of great vessels; truncus arteriosus, persistent Gene Set

From GAD Gene-Disease Associations

genes associated with the disease double outlet right ventricle; heart defects, congenital; pulmonary atresia; tetralogy of fallot; transposition of great vessels; truncus arteriosus, persistent in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital goiter and defective tg synthesis. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital goiter and defective tg synthesis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital polycythemia. Gene Set

From GAD Gene-Disease Associations

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

autoimmune-associated congenital heart block. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune-associated congenital heart block. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leber congenital amaurosis/lca Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leber congenital amaurosis/lca in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart disease Gene Set

From GAD Gene-Disease Associations

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

heart defects, congenital; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital uropathies Gene Set

From GAD Gene-Disease Associations

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

congenital cataracts Gene Set

From GAD Gene-Disease Associations

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

congenital hypothyroidism; cretinism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital hypothyroidism; cretinism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leber congenital amaurosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leber congenital amaurosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital Gene Set

From GeneRIF Biological Term Annotations

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

Leber congenital amaurosis_Retina_GSE3249 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Leber congenital amaurosis_Retina_GSE3249 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Congenital heart malformation Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Congenital heart malformation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Congenital heart disease Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Congenital heart disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

congenital heart disease Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease congenital heart disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

congenital hemolytic anemia Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease congenital hemolytic anemia in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

congenital glaucoma Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the congenital glaucoma phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

primary congenital glaucoma Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the primary congenital glaucoma phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

congenital stapes ankylosis Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital stapes ankylosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital microcephaly Gene Set

From HPO Gene-Disease Associations

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

progressive congenital scoliosis Gene Set

From HPO Gene-Disease Associations

genes associated with the progressive congenital scoliosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital hypoparathyroidism Gene Set

From HPO Gene-Disease Associations

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

congenital nuclear cataract Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital nuclear cataract phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital neutropenia Gene Set

From HPO Gene-Disease Associations

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

congenital ptosis Gene Set

From HPO Gene-Disease Associations

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

congenital primary aphakia Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital primary aphakia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital bilateral hip dislocation Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital bilateral hip dislocation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital muscular torticollis Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital muscular torticollis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital lactic acidosis Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital corneal dystrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital corneal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital localized absence of skin Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital localized absence of skin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

numerous congenital melanocytic nevi Gene Set

From HPO Gene-Disease Associations

genes associated with the numerous congenital melanocytic nevi phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital abnormal hair pattern Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital abnormal hair pattern phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital hepatic fibrosis Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital hepatic fibrosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital laryngeal stridor Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital laryngeal stridor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital malformation of the great arteries Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital malformation of the great arteries phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital contracture Gene Set

From HPO Gene-Disease Associations

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

congenital palmoplantar keratosis Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital palmoplantar keratosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital myopia Gene Set

From HPO Gene-Disease Associations

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

congenital sensorineural hearing impairment Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital nystagmus Gene Set

From HPO Gene-Disease Associations

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

congenital blindness Gene Set

From HPO Gene-Disease Associations

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

congenital pseudoarthrosis of the clavicle Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital pseudoarthrosis of the clavicle phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital hypothyroidism Gene Set

From HPO Gene-Disease Associations

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

congenital fibrosis of extraocular muscles Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital fibrosis of extraocular muscles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital kyphoscoliosis Gene Set

From HPO Gene-Disease Associations

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

congenital hypertrophy of left ventricle Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital hypertrophy of left ventricle phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital goiter Gene Set

From HPO Gene-Disease Associations

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

nonprogressive congenital retinal dystrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the nonprogressive congenital retinal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital adrenal hyperplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital adrenal hyperplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital macroorchidism Gene Set

From HPO Gene-Disease Associations

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

congenital stationary night blindness Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital stationary night blindness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital nephrotic syndrome Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital nephrotic syndrome phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital hypertrophy of retinal pigment epithelium Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital hypertrophy of retinal pigment epithelium phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital malformation of the right heart Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital malformation of the right heart phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital posterior urethral valve Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital posterior urethral valve phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital nonbullous ichthyosiform erythroderma Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital nonbullous ichthyosiform erythroderma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital malformation of the left heart Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital malformation of the left heart phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital cataract Gene Set

From HPO Gene-Disease Associations

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

primary congenital glaucoma Gene Set

From HPO Gene-Disease Associations

genes associated with the primary congenital glaucoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital hemolytic anemia Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital hemolytic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital onychodystrophy Gene Set

From HPO Gene-Disease Associations

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

congenital ichthyosiform erythroderma Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital ichthyosiform erythroderma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital hip dislocation Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital hip dislocation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital foot contractures Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital foot contractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

late onset congenital glaucoma Gene Set

From HPO Gene-Disease Associations

genes associated with the late onset congenital glaucoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital thrombocytopenia Gene Set

From HPO Gene-Disease Associations

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

congenital septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital agranulocytosis Gene Set

From HPO Gene-Disease Associations

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

congenital muscular dystrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital muscular dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital finger flexion contractures Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital finger flexion contractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital giant melanocytic nevus Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital giant melanocytic nevus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital strabismus Gene Set

From HPO Gene-Disease Associations

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

congenital hypoplastic anemia Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital hypoplastic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital glaucoma Gene Set

From HPO Gene-Disease Associations

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

congenital bullous ichthyosiform erythroderma Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital bullous ichthyosiform erythroderma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital symmetrical palmoplantar keratosis Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital symmetrical palmoplantar keratosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital, generalized hypertrichosis Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital, generalized hypertrichosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital diaphragmatic hernia Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital diaphragmatic hernia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital pyloric atresia Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital pyloric atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital onset Gene Set

From HPO Gene-Disease Associations

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

Congenital Hypothyroidism Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Congenital Hypothyroidism phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Congenital Hyperinsulinism Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Congenital Hyperinsulinism phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Congenital Abnormalities Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Congenital Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Anemia, Hemolytic, Congenital Nonspherocytic Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Anemia, Hemolytic, Congenital Nonspherocytic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Pain Insensitivity, Congenital Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Pain Insensitivity, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Anemia, Hemolytic, Congenital Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Anemia, Hemolytic, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Adrenal Hyperplasia, Congenital Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Adrenal Hyperplasia, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Ichthyosiform Erythroderma, Congenital Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Ichthyosiform Erythroderma, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Heart Defects, Congenital Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Heart Defects, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Congenital Disorders of Glycosylation Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Congenital Disorders of Glycosylation phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Upper Extremity Deformities, Congenital Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Upper Extremity Deformities, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Myopathies, Structural, Congenital Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Myopathies, Structural, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Leber Congenital Amaurosis Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Leber Congenital Amaurosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Lower Extremity Deformities, Congenital Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Lower Extremity Deformities, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Hand Deformities, Congenital Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Hand Deformities, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Limb Deformities, Congenital Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Limb Deformities, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Foot Deformities, Congenital Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Foot Deformities, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Hip Dislocation, Congenital Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Hip Dislocation, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

dyserythropoietic anemia, congenital, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyserythropoietic anemia, congenital, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

myasthenia, congenital, with tubular aggregates 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenia, congenital, with tubular aggregates 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

?myosclerosis, congenital Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?myosclerosis, congenital phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital disorder of glycosylation, type ih Gene Set

From OMIM Gene-Disease Associations

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

congenital disorder of glycosylation, type ii Gene Set

From OMIM Gene-Disease Associations

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

congenital disorder of glycosylation, type ij Gene Set

From OMIM Gene-Disease Associations

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

congenital disorder of glycosylation, type ik Gene Set

From OMIM Gene-Disease Associations

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

congenital disorder of glycosylation, type il Gene Set

From OMIM Gene-Disease Associations

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

congenital disorder of glycosylation, type im Gene Set

From OMIM Gene-Disease Associations

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

congenital disorder of glycosylation, type ia Gene Set

From OMIM Gene-Disease Associations

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

congenital disorder of glycosylation, type ib Gene Set

From OMIM Gene-Disease Associations

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

congenital disorder of glycosylation, type ic Gene Set

From OMIM Gene-Disease Associations

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

congenital disorder of glycosylation, type id Gene Set

From OMIM Gene-Disease Associations

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

congenital disorder of glycosylation, type ie Gene Set

From OMIM Gene-Disease Associations

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

congenital disorder of glycosylation, type if Gene Set

From OMIM Gene-Disease Associations

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

congenital disorder of glycosylation, type ig Gene Set

From OMIM Gene-Disease Associations

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

?ptosis, congenital Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?ptosis, congenital phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital disorder of glycosylation, type iq Gene Set

From OMIM Gene-Disease Associations

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

congenital disorder of glycosylation, type it Gene Set

From OMIM Gene-Disease Associations

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

congenital disorder of glycosylation, type iu Gene Set

From OMIM Gene-Disease Associations

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

congenital disorder of glycosylation, type iv Gene Set

From OMIM Gene-Disease Associations

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

diabetes mellitus, neonatal, with congenital hypothyroidism Gene Set

From OMIM Gene-Disease Associations

genes associated with the diabetes mellitus, neonatal, with congenital hypothyroidism phenotype from the curated OMIM Gene-Disease Associations dataset.

ptosis, hereditary congenital, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ptosis, hereditary congenital, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

aural atresia, congenital Gene Set

From OMIM Gene-Disease Associations

genes associated with the aural atresia, congenital phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, congenital, megaconial type Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, megaconial type phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary, autosomal dominant 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary, autosomal dominant 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary, autosomal dominant 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary, autosomal dominant 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

diarrhea 4, malabsorptive, congenital Gene Set

From OMIM Gene-Disease Associations

genes associated with the diarrhea 4, malabsorptive, congenital phenotype from the curated OMIM Gene-Disease Associations dataset.

t-cell immunodeficiency, congenital alopecia, and nail dystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the t-cell immunodeficiency, congenital alopecia, and nail dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

porphyria, congenital erythropoietic Gene Set

From OMIM Gene-Disease Associations

genes associated with the porphyria, congenital erythropoietic phenotype from the curated OMIM Gene-Disease Associations dataset.

dyserythropoietic anemia, congenital, type ia Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyserythropoietic anemia, congenital, type ia phenotype from the curated OMIM Gene-Disease Associations dataset.

dyserythropoietic anemia, congenital, type ib Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyserythropoietic anemia, congenital, type ib phenotype from the curated OMIM Gene-Disease Associations dataset.

rett syndrome, congenital variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the rett syndrome, congenital variant phenotype from the curated OMIM Gene-Disease Associations dataset.

dyserythropoietic anemia, congenital, type ii Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyserythropoietic anemia, congenital, type ii phenotype from the curated OMIM Gene-Disease Associations dataset.

central hypoventilation syndrome, congenital, with or without hirschsprung disease Gene Set

From OMIM Gene-Disease Associations

genes associated with the central hypoventilation syndrome, congenital, with or without hirschsprung disease phenotype from the curated OMIM Gene-Disease Associations dataset.

microcoria, congenital Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcoria, congenital phenotype from the curated OMIM Gene-Disease Associations dataset.

hypofibrinogenemia, congenital Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypofibrinogenemia, congenital phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital bilateral absence of vas deferens Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital bilateral absence of vas deferens phenotype from the curated OMIM Gene-Disease Associations dataset.

corneal dystrophy, congenital stromal Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal dystrophy, congenital stromal phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset.

lethal congenital contracture syndrome 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the lethal congenital contracture syndrome 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

lethal congenital contracture syndrome 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the lethal congenital contracture syndrome 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

lethal congenital contracture syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the lethal congenital contracture syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

neuropathy, congenital hypomyelinating, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuropathy, congenital hypomyelinating, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

insensitivity to pain, congenital, with anhidrosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the insensitivity to pain, congenital, with anhidrosis phenotype from the curated OMIM Gene-Disease Associations dataset.

?congenital disorder of glycosylation, type iw Gene Set

From OMIM Gene-Disease Associations

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

?congenital disorder of glycosylation, type ix Gene Set

From OMIM Gene-Disease Associations

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

?congenital disorder of glycosylation, type iy Gene Set

From OMIM Gene-Disease Associations

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

neutropenia, severe congenital 1, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

hypothyroidism, congenital, nongoitrous, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypothyroidism, congenital, nongoitrous, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.