Name

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.

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.

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.

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.

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.

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.

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 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.

apoplexy; atrial septal defects; embolism, paradoxical; heart septal defects, atrial; migraine with aura; stroke; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; atrial septal defects; embolism, paradoxical; heart septal defects, atrial; migraine with aura; stroke; thrombophilia 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.

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; 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.

coronary artery disease and plasma soluble thrombomodulin Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary artery disease and plasma soluble thrombomodulin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thrombomodulin Gene Set

From GeneRIF Biological Term Annotations

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

Thrombomodulin Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Thrombomodulin protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Thrombomodulin-like, EGF-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Thrombomodulin-like, EGF-like protein domain from the InterPro Predicted Protein Domain Annotations 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

{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.

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.

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.

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.

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.

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.

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.

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.

?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.

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.

{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.

?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.

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.

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.

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

From OMIM Gene-Disease Associations

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

Defective 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.

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.

apoplexy; atrial septal defects; brain ischemia; diabetes mellitus; heart septal defects, atrial; hypertension; intracranial thrombosis; ischemic attack, transient; stroke; transient ischemic attack Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; atrial septal defects; brain ischemia; diabetes mellitus; heart septal defects, atrial; hypertension; intracranial thrombosis; ischemic attack, transient; stroke; transient ischemic attack 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.

atrial septal defects; death, sudden; heart septal defects, atrial; isolated noncompaction of the ventricular myocardium; syncope Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; death, sudden; heart septal defects, atrial; isolated noncompaction of the ventricular myocardium; syncope in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart septal defects, ventricular; ventricular septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart septal defects, ventricular; ventricular septal defects 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.

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 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.

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.

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.

apoplexy; atrial septal defects; heart septal defects, atrial; stroke; thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; atrial septal defects; heart septal defects, atrial; stroke; thromboembolism 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; heart septal defects, atrial; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; heart septal defects, atrial; tetralogy of fallot 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.

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; 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.

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.

Thrombophilia, histidine-rich glycoprotein-related Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, histidine-rich glycoprotein-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia Gene Set

From CTD Gene-Disease Associations

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

Thrombophilia, hereditary Gene Set

From CTD Gene-Disease Associations

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

thrombophilia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

thrombophilia Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

genes associated with the disease thrombophilia in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

thrombophilia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ahg deficiency disease; hemophilia a; hemorrhage; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

blood platelet disorders; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood platelet disorders; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; hyperhomocysteinemia; pulmonary embolism; pulmonary embolisms; syndrome; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; hyperhomocysteinemia; pulmonary embolism; pulmonary embolisms; syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus; hypercholesterolemia; hyperhomocysteinemia; hypertension; retinal vein occlusion; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus; hypercholesterolemia; hyperhomocysteinemia; hypertension; retinal vein occlusion; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; complication, cardiovascular pregnancy; pregnancy complications, cardiovascular; puerperal disorders; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; complication, cardiovascular pregnancy; pregnancy complications, cardiovascular; puerperal disorders; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, sickle cell; beta-thalassemia; sickle cell trait; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sickle cell; beta-thalassemia; sickle cell trait; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

femur head necrosis; hyperhomocysteinemia; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease femur head necrosis; hyperhomocysteinemia; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; postoperative complications; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; postoperative complications; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD 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.

pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; hyperhomocysteinemia; stroke; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; hyperhomocysteinemia; stroke; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abruptio placentae; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abruptio placentae; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atherosclerosis; hyperlipidemias; hypertension; optic neuropathy, ischemic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atherosclerosis; hyperlipidemias; hypertension; optic neuropathy, ischemic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pulmonary embolism; pulmonary embolisms; thromboembolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pulmonary embolism; pulmonary embolisms; thromboembolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mesenteric vascular occlusion; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mesenteric vascular occlusion; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell; beta thalassemia; beta-thalassemia; sickle cell anemia; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sickle cell; beta thalassemia; beta-thalassemia; sickle cell anemia; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio; placenta diseases; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio; placenta diseases; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; thrombophilia; thrombosis; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

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

intracranial thrombosis; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease intracranial thrombosis; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal death; hyperhomocysteinemia; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal death; hyperhomocysteinemia; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thrombophilia Gene Set

From GAD Gene-Disease Associations

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

recurrence; thrombophilia; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease recurrence; thrombophilia; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; brain ischemia; stroke; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; brain ischemia; stroke; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; recurrence; thromboembolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; recurrence; thromboembolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

colonic polyps; gastrointestinal diseases; inflammatory bowel disease, nos; inflammatory bowel diseases; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colonic polyps; gastrointestinal diseases; inflammatory bowel disease, nos; inflammatory bowel diseases; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neoplasms; thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neoplasms; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperhomocysteinemia; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperhomocysteinemia; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abortion, habitual; activated protein c resistance; fetal growth retardation; hypertension; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abortion, habitual; activated protein c resistance; fetal growth retardation; hypertension; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abruptio placentae; fetal growth retardation; pre-eclampsia; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abruptio placentae; fetal growth retardation; pre-eclampsia; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

behcet syndrome; thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease behcet syndrome; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hemophilia a; hemophilia b; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hemophilia a; hemophilia b; thrombophilia 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.

atrial fibrillation; thromboembolism; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial fibrillation; thromboembolism; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders; osteonecrosis; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders; osteonecrosis; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; pre-eclampsia; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

abortion, habitual; abortion, spontaneous; obstetric labor complications; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abortion, habitual; abortion, spontaneous; obstetric labor complications; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

premature birth; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease premature birth; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myeloproliferative disorders; thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myeloproliferative disorders; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperhomocysteinemia; retinal vein occlusion; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperhomocysteinemia; retinal vein occlusion; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; protein s deficiency; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

protein s deficiency; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

hypertension, pregnancy-induced; pre-eclampsia; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertension, pregnancy-induced; pre-eclampsia; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

deep vein thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease deep vein thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; blood coagulation disorders, inherited; femur head necrosis; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; blood coagulation disorders, inherited; femur head necrosis; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atherosclerosis; pregnancy complications, cardiovascular; pregnancy complications, hematologic; retinal artery occlusion; retinal vein occlusion; thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atherosclerosis; pregnancy complications, cardiovascular; pregnancy complications, hematologic; retinal artery occlusion; retinal vein occlusion; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal growth retardation; intrauterine growth retardation; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal growth retardation; intrauterine growth retardation; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

embryo loss; genetic diseases, inborn; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease embryo loss; genetic diseases, inborn; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abortion, habitual; infertility; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abortion, habitual; infertility; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pre-eclampsia; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

brain ischemia; stroke; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain ischemia; stroke; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abortion, habitual; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abortion, habitual; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thromboangiitis obliterans; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease thromboangiitis obliterans; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

renal insufficiency; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease renal insufficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperhomocysteinemia; recurrence; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperhomocysteinemia; recurrence; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholism; osteonecrosis; thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; osteonecrosis; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pulmonary embolism; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pulmonary embolism; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders, inherited; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

abortion, habitual; pregnancy complications; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abortion, habitual; pregnancy complications; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertension induced by pregnancy; hypertension, pregnancy-induced; pregnancy complications, hematologic; thrombophilia; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertension induced by pregnancy; hypertension, pregnancy-induced; pregnancy complications, hematologic; thrombophilia; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abortion, habitual; abruptio placentae; activated protein c resistance; placenta abruptio; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abortion, habitual; abruptio placentae; activated protein c resistance; placenta abruptio; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myocardial infarction; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myocardial infarction; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; homocystinuria; hyperhomocysteinemia; muscle spasticity; sepsis; septic shock; shock, septic; systemic infection; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; homocystinuria; hyperhomocysteinemia; muscle spasticity; sepsis; septic shock; shock, septic; systemic infection; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pulmonary embolism; pulmonary embolisms; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pulmonary embolism; pulmonary embolisms; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thrombophilia; thrombosis; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

carcinoma, squamous cell; mouth neoplasms; squamous cell carcinoma; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, squamous cell; mouth neoplasms; squamous cell carcinoma; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thromboembolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease thromboembolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antiphospholipid syndrome; thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antiphospholipid syndrome; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thrombophilia; thrombosis; varicose veins Gene Set

From GAD Gene-Disease Associations

genes associated with the disease thrombophilia; thrombosis; varicose veins in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abruptio placentae; fetal growth retardation; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abruptio placentae; fetal growth retardation; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

gaucher disease; legg-perthes disease; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gaucher disease; legg-perthes disease; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myeloproliferative disorders; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myeloproliferative disorders; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

intracranial embolism; migraine disorders; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease intracranial embolism; migraine disorders; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hemorrhage; placenta diseases; premature birth; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hemorrhage; placenta diseases; premature birth; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; cardiovascular diseases; polycythemia vera; recurrence; thrombocythemia, hemorrhagic; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; cardiovascular diseases; polycythemia vera; recurrence; thrombocythemia, hemorrhagic; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperhomocysteinemia; intracranial thrombosis; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperhomocysteinemia; intracranial thrombosis; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

behcet syndrome; hyperhomocysteinemia; thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease behcet syndrome; hyperhomocysteinemia; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coagulation protein disorders; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

abortion, habitual; activated protein c resistance; infertility, female; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abortion, habitual; activated protein c resistance; infertility, female; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute lymphocytic leukemia; hematologic neoplasms; precursor cell lymphoblastic leukemia-lymphoma; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute lymphocytic leukemia; hematologic neoplasms; precursor cell lymphoblastic leukemia-lymphoma; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thrombophilia; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease thrombophilia; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; multiple myeloma; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; multiple myeloma; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; peripheral vascular diseases; recurrence; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; peripheral vascular diseases; recurrence; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

sinus thrombosis, intracranial; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease sinus thrombosis, intracranial; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; pregnancy complications, hematologic; puerperal disorders; pulmonary embolism; thrombophilia; thrombophlebitis; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

pregnancy complications, hematologic; recurrence; thromboembolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pregnancy complications, hematologic; recurrence; thromboembolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders; blood coagulation disorders, inherited; recurrence; thromboembolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

pregnancy complications, hematologic; premature birth; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pregnancy complications, hematologic; premature birth; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

budd-chiari syndrome; hyperhomocysteinemia; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease budd-chiari syndrome; hyperhomocysteinemia; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal diseases; fetal growth retardation; hypertension induced by pregnancy; hypertension, pregnancy-induced; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal diseases; fetal growth retardation; hypertension induced by pregnancy; hypertension, pregnancy-induced; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

colitis, ulcerative; hyperhomocysteinemia; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colitis, ulcerative; hyperhomocysteinemia; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal loss ; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal loss ; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

epilepsy; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease epilepsy; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis; wegener granulomatosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis; wegener granulomatosis 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.

abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pre-eclampsia; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pre-eclampsia; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders; legg-perthes disease; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders; legg-perthes disease; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

retinal vein occlusion; thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease retinal vein occlusion; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; hyperhomocysteinemia; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

hearing loss, sensorineural; hypercholesterolemia; hyperhomocysteinemia; sensorineural hearing loss; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hearing loss, sensorineural; hypercholesterolemia; hyperhomocysteinemia; sensorineural hearing loss; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; infection; neoplasms; thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; infection; neoplasms; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hemorrhage; recurrence; thromboembolism; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hemorrhage; recurrence; thromboembolism; thrombophilia 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.

placenta diseases; pre-eclampsia; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

neoplasms; recurrence; thromboembolism; thrombophilia; upper extremity deep vein thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neoplasms; recurrence; thromboembolism; thrombophilia; upper extremity deep vein thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; factor v deficiency; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

hereditary thrombophilia. Gene Set

From GAD Gene-Disease Associations

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

embryo loss; habitual aborter nos; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease embryo loss; habitual aborter nos; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brain ischemia; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain ischemia; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abortion, spontaneous; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abortion, spontaneous; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperhomocysteinemia; inflammatory bowel disease, nos; inflammatory bowel diseases; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperhomocysteinemia; inflammatory bowel disease, nos; inflammatory bowel diseases; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal growth retardation; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal growth retardation; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperhomocysteinemia; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperhomocysteinemia; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; coronary disease; coronary heart disease; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; coronary disease; coronary heart disease; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

recurrence; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease recurrence; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; diabetes mellitus; hypercholesterolemia; hyperhomocysteinemia; hypertension; myocardial infarction; stroke; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; diabetes mellitus; hypercholesterolemia; hyperhomocysteinemia; hypertension; myocardial infarction; stroke; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

factor v deficiency; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

beta-thalassemia; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease beta-thalassemia; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abruptio placentae; placenta abruptio; pregnancy complications; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abruptio placentae; placenta abruptio; pregnancy complications; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thromboembolism; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease thromboembolism; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

liver cirrhosis; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

precursor cell lymphoblastic leukemia-lymphoma; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease precursor cell lymphoblastic leukemia-lymphoma; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

recurrence; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease recurrence; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arteriosclerosis; thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arteriosclerosis; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

gaucher disease; hypertension, pulmonary; necrosis; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gaucher disease; hypertension, pulmonary; necrosis; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atherosclerosis; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

abortion, habitual; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abortion, habitual; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thrombocythemia, essential; thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease thrombocythemia, essential; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hellp syndrome; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hellp syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abortion, spontaneous; abruptio placentae; placenta abruptio; pre-eclampsia; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abortion, spontaneous; abruptio placentae; placenta abruptio; pre-eclampsia; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

retinal vein occlusion; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease retinal vein occlusion; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thrombophilia; varicose ulcer; varicose veins Gene Set

From GAD Gene-Disease Associations

genes associated with the disease thrombophilia; varicose ulcer; varicose veins in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abruptio placentae; placenta abruptio; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abruptio placentae; placenta abruptio; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus; hyperlipidemias; hypertension; retinal vein occlusion; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus; hyperlipidemias; hypertension; retinal vein occlusion; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

osteonecrosis; thrombophilia; hypofibrinolysis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease osteonecrosis; thrombophilia; hypofibrinolysis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myeloproliferative disorders; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myeloproliferative disorders; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

venous thrombophilia Gene Set

From GAD Gene-Disease Associations

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

abortion, spontaneous; abruptio placentae; blood coagulation disorders, inherited; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abortion, spontaneous; abruptio placentae; blood coagulation disorders, inherited; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; thromboembolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

blood coagulation disorders; eclampsia; hellp syndrome; pre-eclampsia; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders; eclampsia; hellp syndrome; pre-eclampsia; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; hemochromatosis; iron overload; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; hemochromatosis; iron overload; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

budd-chiari syndrome; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease budd-chiari syndrome; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

constriction, pathologic; ischemia; peripheral arterial disease; peripheral arterial diseases; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease constriction, pathologic; ischemia; peripheral arterial disease; peripheral arterial diseases; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

hemorrhage; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hemorrhage; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormal fibrin polymerization and thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormal fibrin polymerization and thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

henoch-schoenlein purpura; purpura, schoenlein-henoch; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease henoch-schoenlein purpura; purpura, schoenlein-henoch; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

stomach neoplasms; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease stomach neoplasms; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thrombophilia Gene Set

From GeneRIF Biological Term Annotations

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

thrombophilia Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease thrombophilia in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Thrombophilia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Thrombophilia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

{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.

{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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

{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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

?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.

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.

Dandy-Walker like malformation with atrioventricular septal defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dandy-Walker like malformation with atrioventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined cellular and humoral immune defects with granulomas Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined cellular and humoral immune defects with granulomas 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.

Protan defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Protan defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiac conduction defect, nonspecific Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiac conduction defect, nonspecific phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 7 with or without atrioventricular conduction defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 7 with or without atrioventricular conduction defects 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.

Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Forebrain defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Forebrain defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphate transport defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphate transport defect 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.

Neutral 1 amino acid transport defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neutral 1 amino acid transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ventricular septal defect 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ventricular septal defect 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ventricular septal defect 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ventricular septal defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Laron-type isolated somatotropin defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Laron-type isolated somatotropin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hirschsprung disease, cardiac defects, and autonomic dysfunction Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hirschsprung disease, cardiac defects, and autonomic dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neural tube defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neural tube defect 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 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.

Atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrioventricular septal defect, partial, with heterotaxy 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.

Glucose-6-phosphate transport defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucose-6-phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Iodotyrosine deiodination defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Iodotyrosine deiodination defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal carnitine transport defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal carnitine transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrioventricular septal defect 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrioventricular septal defect 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrioventricular septal defect 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrioventricular septal defect 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Erythrocyte lactate transporter defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Erythrocyte lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 3 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.

Oocyte maturation defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oocyte maturation defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skeletal defects, genital hypoplasia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Iodotyrosyl coupling defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Iodotyrosyl coupling defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Heart Septal Defects, Ventricular Gene Set

From CTD Gene-Disease Associations

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

Combined Cellular And Humoral Immune Defects With Granulomas Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Cellular And Humoral Immune Defects With Granulomas from the curated CTD Gene-Disease Associations dataset.

Sacral defect and anterior sacral meningocele Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sacral defect and anterior sacral meningocele from the curated CTD Gene-Disease Associations dataset.

Cardiac Conduction Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardiac Conduction Defect 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.

Atrial septal defect 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial septal defect 2 from the curated CTD Gene-Disease Associations dataset.

ATRIOVENTRICULAR SEPTAL DEFECT 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ATRIOVENTRICULAR SEPTAL DEFECT 3 from the curated CTD Gene-Disease Associations dataset.

Heart Septal Defects Gene Set

From CTD Gene-Disease Associations

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

Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome 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.

Atrial Septal Defect 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial Septal Defect 4 from the curated CTD Gene-Disease Associations dataset.

Neural Tube Defects Gene Set

From CTD Gene-Disease Associations

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

Atrioventricular Canal Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrioventricular Canal Defect 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.

Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

Neural tube defect, folate-sensitive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neural tube defect, folate-sensitive from the curated CTD Gene-Disease Associations dataset.

Atrial Septal Defect 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial Septal Defect 6 from the curated CTD Gene-Disease Associations dataset.

Laterality Defects, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Laterality Defects, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset.

Heart Septal Defects, Atrial Gene Set

From CTD Gene-Disease Associations

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

Atrial Septal Defect 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial Septal Defect 5 from the curated CTD Gene-Disease Associations dataset.

Atrial Septal Defect 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial Septal Defect 1 from the curated CTD Gene-Disease Associations dataset.

Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alopecia, Neurologic Defects, and Endocrinopathy Syndrome from the curated CTD Gene-Disease Associations dataset.

Erythrocyte Lactate Transporter Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Erythrocyte Lactate Transporter Defect 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.

Micronuclei, Chromosome-Defective Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Micronuclei, Chromosome-Defective from the curated CTD Gene-Disease Associations dataset.

Color Vision Defects Gene Set

From CTD Gene-Disease Associations

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

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS from the curated CTD Gene-Disease Associations dataset.

atrial heart septal defect Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

heart septal defect Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

heart septal defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ventricular septal defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

alcohol-related birth defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease alcohol-related birth defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

atrioventricular septal defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease atrioventricular septal defect 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.

atrial heart septal defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

qualitative platelet defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

defective colour vision Gene Set

From GAD Gene-Disease Associations

genes associated with the disease defective colour vision in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

micronuclei, chromosome-defective Gene Set

From GAD Gene-Disease Associations

genes associated with the disease micronuclei, chromosome-defective 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.

cleft palate and calvaria defects. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft palate and calvaria defects. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

familial defective apolipoprotein b100. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease familial defective apolipoprotein b100. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects; dihydropyrimidine dehydrogenase Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects; dihydropyrimidine dehydrogenase in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

defective dr beta 4 chain expression to the hla-drb1 gene Gene Set

From GAD Gene-Disease Associations

genes associated with the disease defective dr beta 4 chain expression to the hla-drb1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

familial defective apolipoprotein b Gene Set

From GAD Gene-Disease Associations

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

cardiovascular diseases; micronuclei, chromosome-defective Gene Set

From GAD Gene-Disease Associations

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

cardiac defects Gene Set

From GAD Gene-Disease Associations

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

birth defects Gene Set

From GAD Gene-Disease Associations

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

down syndrome; micronuclei, chromosome-defective Gene Set

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; micronuclei, chromosome-defective in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; micronuclei, chromosome-defective Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; micronuclei, chromosome-defective 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.

dna damage; lung neoplasms; micronuclei, chromosome-defective; neoplasm of lung Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; lung neoplasms; micronuclei, chromosome-defective; neoplasm of lung 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.

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.

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.

familial defective apolipoprotein b-100 in a chinese man Gene Set

From GAD Gene-Disease Associations

genes associated with the disease familial defective apolipoprotein b-100 in a chinese man in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anencephaly; folic acid deficiency; neural tube defects; pregnancy complications; spinal dysraphism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anencephaly; folic acid deficiency; neural tube defects; pregnancy complications; spinal dysraphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial fibrillation; heart septal defects Gene Set

From GAD Gene-Disease Associations

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

axial skeletal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease axial skeletal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

left-right laterality defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease left-right laterality defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart septal defects, ventricular Gene Set

From GAD Gene-Disease Associations

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

human spermatogenic defect Gene Set

From GAD Gene-Disease Associations

genes associated with the disease human spermatogenic defect 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.

neural tube defects and preeclampsia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects and preeclampsia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

color vision defects; retinal degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease color vision defects; retinal degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart septal defects, atrial; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

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

defective heparin binding associated Gene Set

From GAD Gene-Disease Associations

genes associated with the disease defective heparin binding associated in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

flushing; micronuclei, chromosome-defective Gene Set

From GAD Gene-Disease Associations

genes associated with the disease flushing; micronuclei, chromosome-defective 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.

neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate 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.

ductus arteriosus, patent; heart septal defects, atrial Gene Set

From GAD Gene-Disease Associations

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

chromosome aberrations; chromosome abnormality; micronuclei, chromosome-defective Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; micronuclei, chromosome-defective in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

visual field defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease visual field defects 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.

neural tube defects; pregnancy complications Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects; pregnancy complications 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.

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.

chromosome aberrations; chromosome abnormality; micronuclei, chromosome-defective; radiation injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; micronuclei, chromosome-defective; radiation injuries 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.

coronary disease; coronary heart disease; neural tube defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; neural tube defects 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.

heart septal defects Gene Set

From GAD Gene-Disease Associations

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

heart septal defects, ventricular; hypertension, pulmonary Gene Set

From GAD Gene-Disease Associations

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

neural tube defects; spinal dysraphism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects; spinal dysraphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

defectiveness Gene Set

From GeneRIF Biological Term Annotations

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

defects Gene Set

From GeneRIF Biological Term Annotations

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

defectsaffected Gene Set

From GeneRIF Biological Term Annotations

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

defective Gene Set

From GeneRIF Biological Term Annotations

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

defect Gene Set

From GeneRIF Biological Term Annotations

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

Conotruncal heart defects Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Conotruncal heart defects phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

conotruncal defect Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the conotruncal defect phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

thyroid hormone receptor defect Gene Set

From HPO Gene-Disease Associations

genes associated with the thyroid hormone receptor defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

progressive visual field defects Gene Set

From HPO Gene-Disease Associations

genes associated with the progressive visual field defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

ventricular septal defect Gene Set

From HPO Gene-Disease Associations

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

midline defect of mandible Gene Set

From HPO Gene-Disease Associations

genes associated with the midline defect of mandible phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

vertebral segmentation defect Gene Set

From HPO Gene-Disease Associations

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

electron transfer flavoprotein-ubiquinone oxidoreductase defect Gene Set

From HPO Gene-Disease Associations

genes associated with the electron transfer flavoprotein-ubiquinone oxidoreductase defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

secundum atrial septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the secundum atrial septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

lung segmentation defects Gene Set

From HPO Gene-Disease Associations

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

dynein arm defect of respiratory motile cilia Gene Set

From HPO Gene-Disease Associations

genes associated with the dynein arm defect of respiratory motile cilia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

inlet ventricular septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the inlet ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

thyroid defect in oxidation and organification of iodide Gene Set

From HPO Gene-Disease Associations

genes associated with the thyroid defect in oxidation and organification of iodide phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

adrenocorticotropin (acth) receptor (acthr) defect Gene Set

From HPO Gene-Disease Associations

genes associated with the adrenocorticotropin (acth) receptor (acthr) defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

sacral segmentation defect Gene Set

From HPO Gene-Disease Associations

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

pulmonary valve defects Gene Set

From HPO Gene-Disease Associations

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

abdominal wall defect Gene Set

From HPO Gene-Disease Associations

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

visual field defect Gene Set

From HPO Gene-Disease Associations

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

defective dna repair after ultraviolet radiation damage Gene Set

From HPO Gene-Disease Associations

genes associated with the defective dna repair after ultraviolet radiation damage phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

mitochondrial respiratory chain defects Gene Set

From HPO Gene-Disease Associations

genes associated with the mitochondrial respiratory chain defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

defective lymphocyte apoptosis Gene Set

From HPO Gene-Disease Associations

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

symmetrical, oval parietal bone defects Gene Set

From HPO Gene-Disease Associations

genes associated with the symmetrical, oval parietal bone defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

atrioventricular canal defect with right ventricle aorta and pulmonary atresia Gene Set

From HPO Gene-Disease Associations

genes associated with the atrioventricular canal defect with right ventricle aorta and pulmonary atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

defective b cell activation Gene Set

From HPO Gene-Disease Associations

genes associated with the defective b cell activation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

muscular ventricular septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the muscular ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

defect in the atrial septum Gene Set

From HPO Gene-Disease Associations

genes associated with the defect in the atrial septum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the distal phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the distal phalanges of the toes 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.

skull defect Gene Set

From HPO Gene-Disease Associations

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

osteolytic defects of the hand bones Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the hand bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

forearm reduction defects Gene Set

From HPO Gene-Disease Associations

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

cervical segmentation defect Gene Set

From HPO Gene-Disease Associations

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

atrioventricular canal defect Gene Set

From HPO Gene-Disease Associations

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

perimembranous ventricular septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the perimembranous ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

midline defect of the nose Gene Set

From HPO Gene-Disease Associations

genes associated with the midline defect of the nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

asymmetric, linear skin defects Gene Set

From HPO Gene-Disease Associations

genes associated with the asymmetric, linear skin defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

complete atrioventricular canal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the complete atrioventricular canal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

defective dehydrogenation of isovaleryl coa and butyryl coa Gene Set

From HPO Gene-Disease Associations

genes associated with the defective dehydrogenation of isovaleryl coa and butyryl coa phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

defective b cell differentiation Gene Set

From HPO Gene-Disease Associations

genes associated with the defective b cell differentiation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

large central visual field defect Gene Set

From HPO Gene-Disease Associations

genes associated with the large central visual field defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

conotruncal defect Gene Set

From HPO Gene-Disease Associations

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

primum atrial septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the primum atrial septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Heart Septal Defects, Ventricular Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Heart Septal Defects, Ventricular phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Endocardial Cushion Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Endocardial Cushion Defects 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.

Color Vision Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Color Vision Defects phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Heart Septal Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Heart Septal Defects phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Heart Septal Defects, Atrial Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Heart Septal Defects, Atrial phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Micronuclei, Chromosome-Defective Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Micronuclei, Chromosome-Defective phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Neural Tube Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Neural Tube Defects phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Mannose-P-dolichol utilization defect 1 protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mannose-P-dolichol utilization defect 1 protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Defective-in-cullin neddylation protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Defective-in-cullin neddylation protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

atrial septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

defective assembly of class i molecules Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the defective assembly of class i molecules phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

perimembraneous ventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the perimembraneous ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

defective assembly of class ii molecules Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the defective assembly of class ii molecules phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial atrioventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

inlet ventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the inlet ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

double outlet right ventricle with atrioventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the double outlet right ventricle with atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

iodide oxidation defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the iodide oxidation defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

aorticopulmonary septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the aorticopulmonary septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

double outlet right ventricle, ventricular defect committed to aorta Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the double outlet right ventricle, ventricular defect committed to aorta phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

muscular ventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the muscular ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ostium primum atrial septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ostium primum atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

complete atrioventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the complete atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ostium secundum atrial septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ostium secundum atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

defective intracellular transport of class i molecules Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the defective intracellular transport of class i molecules phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

atrioventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

skeletal defects, genital hypoplasia, and mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

schizophrenia, neurophysiologic defect in Gene Set

From OMIM Gene-Disease Associations

genes associated with the schizophrenia, neurophysiologic defect in phenotype from the curated OMIM Gene-Disease Associations dataset.

{atrioventricular septal defect, susceptibility to, 1} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {atrioventricular septal defect, susceptibility to, 1} phenotype from the curated OMIM Gene-Disease Associations dataset.

hirschsprung disease, cardiac defects, and autonomic dysfunction Gene Set

From OMIM Gene-Disease Associations

genes associated with the hirschsprung disease, cardiac defects, and autonomic dysfunction phenotype from the curated OMIM Gene-Disease Associations dataset.

{neural tube defects, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {neural tube defects, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

erythrocyte lactate transporter defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the erythrocyte lactate transporter defect phenotype from the curated OMIM Gene-Disease Associations dataset.

natural killer cell and glucocorticoid deficiency with dna repair defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the natural killer cell and glucocorticoid deficiency with dna repair defect phenotype from the curated OMIM Gene-Disease Associations dataset.

ventricular septal defect 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ventricular septal defect 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ventricular septal defect 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ventricular septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

forebrain defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the forebrain defects phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital heart defects, nonsyndromic, 1, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, nonsyndromic, 1, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital heart defects, multiple types, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, multiple types, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital heart defects, multiple types, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, multiple types, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

selective t-cell defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the selective t-cell defect phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

{neural tube defects, folate-sensitive, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {neural tube defects, folate-sensitive, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

left ventricular noncompaction 1, with or without congenital heart defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the left ventricular noncompaction 1, with or without congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

genes associated with the myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated OMIM Gene-Disease Associations dataset.

atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined cellular and humoral immune defects with granulomas Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined cellular and humoral immune defects with granulomas phenotype from the curated OMIM Gene-Disease Associations dataset.

neural tube defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the neural tube defects phenotype from the curated OMIM Gene-Disease Associations dataset.

ventricular septal defect 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ventricular septal defect 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardiac conduction defect, nonspecific Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardiac conduction defect, nonspecific phenotype from the curated OMIM Gene-Disease Associations dataset.

alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

{atrioventricular septal defect, susceptibility to, 2} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {atrioventricular septal defect, susceptibility to, 2} phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, congenital heart defects, and posterior embryotoxon Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated OMIM Gene-Disease Associations dataset.

oocyte maturation defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the oocyte maturation defect phenotype from the curated OMIM Gene-Disease Associations dataset.

atrioventricular septal defect 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrioventricular septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrioventricular septal defect 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrioventricular septal defect 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrioventricular septal defect 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrioventricular septal defect 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 7, with or without av conduction defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 7, with or without av conduction defects phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital heart defects, nonsyndromic, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, nonsyndromic, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

pancreatic agenesis and congenital heart defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the pancreatic agenesis and congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset.

{cardiac conduction defect, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {cardiac conduction defect, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

genes associated with the multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective PAPSS2 causes SEMD-PA Gene Set

From Reactome Pathways

proteins participating in the Defective PAPSS2 causes SEMD-PA pathway from the Reactome Pathways dataset.

Defective FMO3 causes Trimethylaminuria (TMAU) Gene Set

From Reactome Pathways

proteins participating in the Defective FMO3 causes Trimethylaminuria (TMAU) pathway from the Reactome Pathways dataset.

Defective MAOA causes Brunner syndrome (BRUNS) Gene Set

From Reactome Pathways

proteins participating in the Defective MAOA causes Brunner syndrome (BRUNS) pathway from the Reactome Pathways dataset.

Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3) pathway from the Reactome Pathways dataset.

Defective ALG8 causes ALG8-CDG (CDG-1h) Gene Set

From Reactome Pathways

proteins participating in the Defective ALG8 causes ALG8-CDG (CDG-1h) pathway from the Reactome Pathways dataset.

Defective MGAT2 causes MGAT2-CDG (CDG-2a) Gene Set

From Reactome Pathways

proteins participating in the Defective MGAT2 causes MGAT2-CDG (CDG-2a) pathway from the Reactome Pathways dataset.

Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) pathway from the Reactome Pathways dataset.

Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Gene Set

From Reactome Pathways

proteins participating in the Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway from the Reactome Pathways dataset.

Defective MMAB causes methylmalonic aciduria type cblB Gene Set

From Reactome Pathways

proteins participating in the Defective MMAB causes methylmalonic aciduria type cblB pathway from the Reactome Pathways dataset.

Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) pathway from the Reactome Pathways dataset.

Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) Gene Set

From Reactome Pathways

proteins participating in the Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) pathway from the Reactome Pathways dataset.

Defective CYP19A1 causes Aromatase excess syndrome (AEXS) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP19A1 causes Aromatase excess syndrome (AEXS) pathway from the Reactome Pathways dataset.

Defective ACY1 causes encephalopathy Gene Set

From Reactome Pathways

proteins participating in the Defective ACY1 causes encephalopathy pathway from the Reactome Pathways dataset.

Defects in cobalamin (B12) metabolism Gene Set

From Reactome Pathways

proteins participating in the Defects in cobalamin (B12) metabolism pathway from the Reactome Pathways dataset.

Defective CYP1B1 causes Glaucoma Gene Set

From Reactome Pathways

proteins participating in the Defective CYP1B1 causes Glaucoma pathway from the Reactome Pathways dataset.

Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B) pathway from the Reactome Pathways dataset.

Defective AMN causes hereditary megaloblastic anemia 1 Gene Set

From Reactome Pathways

proteins participating in the Defective AMN causes hereditary megaloblastic anemia 1 pathway from the Reactome Pathways dataset.

Defective RFT1 causes RFT1-CDG (CDG-1n) Gene Set

From Reactome Pathways

proteins participating in the Defective RFT1 causes RFT1-CDG (CDG-1n) pathway from the Reactome Pathways dataset.

Defective ALG6 causes ALG6-CDG (CDG-1c) Gene Set

From Reactome Pathways

proteins participating in the Defective ALG6 causes ALG6-CDG (CDG-1c) pathway from the Reactome Pathways dataset.

Defective MMAA causes methylmalonic aciduria type cblA Gene Set

From Reactome Pathways

proteins participating in the Defective MMAA causes methylmalonic aciduria type cblA pathway from the Reactome Pathways dataset.

Defective CHSY1 causes TPBS Gene Set

From Reactome Pathways

proteins participating in the Defective CHSY1 causes TPBS pathway from the Reactome Pathways dataset.

Defective EXT2 causes exostoses 2 Gene Set

From Reactome Pathways

proteins participating in the Defective EXT2 causes exostoses 2 pathway from the Reactome Pathways dataset.

Defective B3GAT3 causes JDSSDHD Gene Set

From Reactome Pathways

proteins participating in the Defective B3GAT3 causes JDSSDHD pathway from the Reactome Pathways dataset.

Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Gene Set

From Reactome Pathways

proteins participating in the Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway from the Reactome Pathways dataset.

Defective ALG9 causes ALG9-CDG (CDG-1l) Gene Set

From Reactome Pathways

proteins participating in the Defective ALG9 causes ALG9-CDG (CDG-1l) pathway from the Reactome Pathways dataset.

Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX) pathway from the Reactome Pathways dataset.

Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Gene Set

From Reactome Pathways

proteins participating in the Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway from the Reactome Pathways dataset.

Defective GGT1 causes Glutathionuria (GLUTH) Gene Set

From Reactome Pathways

proteins participating in the Defective GGT1 causes Glutathionuria (GLUTH) pathway from the Reactome Pathways dataset.

Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) pathway from the Reactome Pathways dataset.

Defective ALG1 causes ALG1-CDG (CDG-1k) Gene Set

From Reactome Pathways

proteins participating in the Defective ALG1 causes ALG1-CDG (CDG-1k) pathway from the Reactome Pathways dataset.

Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Gene Set

From Reactome Pathways

proteins participating in the Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway from the Reactome Pathways dataset.

Defective OPLAH causes 5-oxoprolinase deficiency (OPLAHD) Gene Set

From Reactome Pathways

proteins participating in the Defective OPLAH causes 5-oxoprolinase deficiency (OPLAHD) pathway from the Reactome Pathways dataset.

Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS) Gene Set

From Reactome Pathways

proteins participating in the Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS) pathway from the Reactome Pathways dataset.

Defective MAT1A causes Methionine adenosyltransferase deficiency (MATD) Gene Set

From Reactome Pathways

proteins participating in the Defective MAT1A causes Methionine adenosyltransferase deficiency (MATD) pathway from the Reactome Pathways dataset.

Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A) pathway from the Reactome Pathways dataset.

Defective EXT1 causes exostoses 1, TRPS2 and CHDS Gene Set

From Reactome Pathways

proteins participating in the Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway from the Reactome Pathways dataset.

Defective MPDU1 causes MPDU1-CDG (CDG-1f) Gene Set

From Reactome Pathways

proteins participating in the Defective MPDU1 causes MPDU1-CDG (CDG-1f) pathway from the Reactome Pathways dataset.

Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5) pathway from the Reactome Pathways dataset.

Defective CUBN causes hereditary megaloblastic anemia 1 Gene Set

From Reactome Pathways

proteins participating in the Defective CUBN causes hereditary megaloblastic anemia 1 pathway from the Reactome Pathways dataset.

Defects in vitamin and cofactor metabolism Gene Set

From Reactome Pathways

proteins participating in the Defects in vitamin and cofactor metabolism pathway from the Reactome Pathways dataset.

Defective GIF causes intrinsic factor deficiency Gene Set

From Reactome Pathways

proteins participating in the Defective GIF causes intrinsic factor deficiency pathway from the Reactome Pathways dataset.

Defective UGT1A4 causes hyperbilirubinemia Gene Set

From Reactome Pathways

proteins participating in the Defective UGT1A4 causes hyperbilirubinemia pathway from the Reactome Pathways dataset.

Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) Gene Set

From Reactome Pathways

proteins participating in the Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway from the Reactome Pathways dataset.

Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56) pathway from the Reactome Pathways dataset.

Defective ALG11 causes ALG11-CDG (CDG-1p) Gene Set

From Reactome Pathways

proteins participating in the Defective ALG11 causes ALG11-CDG (CDG-1p) pathway from the Reactome Pathways dataset.

Defective SLC26A2 causes chondrodysplasias Gene Set

From Reactome Pathways

proteins participating in the Defective SLC26A2 causes chondrodysplasias pathway from the Reactome Pathways dataset.

Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Gene Set

From Reactome Pathways

proteins participating in the Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway from the Reactome Pathways dataset.

Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) pathway from the Reactome Pathways dataset.

Defective TCN2 causes hereditary megaloblastic anemia Gene Set

From Reactome Pathways

proteins participating in the Defective TCN2 causes hereditary megaloblastic anemia pathway from the Reactome Pathways 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 MUT causes methylmalonic aciduria mut type Gene Set

From Reactome Pathways

proteins participating in the Defective MUT causes methylmalonic aciduria mut type pathway from the Reactome Pathways dataset.

Defective MAN1B1 causes MRT15 Gene Set

From Reactome Pathways

proteins participating in the Defective MAN1B1 causes MRT15 pathway from the Reactome Pathways dataset.

Defective CHST6 causes MCDC1 Gene Set

From Reactome Pathways

proteins participating in the Defective CHST6 causes MCDC1 pathway from the Reactome Pathways dataset.

Defective ALG2 causes ALG2-CDG (CDG-1i) Gene Set

From Reactome Pathways

proteins participating in the Defective ALG2 causes ALG2-CDG (CDG-1i) pathway from the Reactome Pathways dataset.

Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) pathway from the Reactome Pathways 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.

Defective CHST14 causes EDS, musculocontractural type Gene Set

From Reactome Pathways

proteins participating in the Defective CHST14 causes EDS, musculocontractural type pathway from the Reactome Pathways dataset.

Defective AHCY causes Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) Gene Set

From Reactome Pathways

proteins participating in the Defective AHCY causes Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) pathway from the Reactome Pathways dataset.

Defective CD320 causes methylmalonic aciduria Gene Set

From Reactome Pathways

proteins participating in the Defective CD320 causes methylmalonic aciduria pathway from the Reactome Pathways dataset.

Defects in biotin (Btn) metabolism Gene Set

From Reactome Pathways

proteins participating in the Defects in biotin (Btn) metabolism pathway from the Reactome Pathways dataset.

Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) Gene Set

From Reactome Pathways

proteins participating in the Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) pathway from the Reactome Pathways dataset.

Defective ALG12 causes ALG12-CDG (CDG-1g) Gene Set

From Reactome Pathways

proteins participating in the Defective ALG12 causes ALG12-CDG (CDG-1g) pathway from the Reactome Pathways dataset.

Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) pathway from the Reactome Pathways dataset.

Defective UGT1A1 causes hyperbilirubinemia Gene Set

From Reactome Pathways

proteins participating in the Defective UGT1A1 causes hyperbilirubinemia pathway from the Reactome Pathways dataset.

Defective ALG3 causes ALG3-CDG (CDG-1d) Gene Set

From Reactome Pathways

proteins participating in the Defective ALG3 causes ALG3-CDG (CDG-1d) 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.

Defective CHST3 causes SEDCJD Gene Set

From Reactome Pathways

proteins participating in the Defective CHST3 causes SEDCJD pathway from the Reactome Pathways dataset.

Defective BTD causes biotidinase deficiency Gene Set

From Reactome Pathways

proteins participating in the Defective BTD causes biotidinase deficiency pathway from the Reactome Pathways dataset.

Defective B4GALT7 causes EDS, progeroid type Gene Set

From Reactome Pathways

proteins participating in the Defective B4GALT7 causes EDS, progeroid type pathway from the Reactome Pathways dataset.

Defective MOGS causes MOGS-CDG (CDG-2b) Gene Set

From Reactome Pathways

proteins participating in the Defective MOGS causes MOGS-CDG (CDG-2b) pathway from the Reactome Pathways dataset.

Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD) Gene Set

From Reactome Pathways

proteins participating in the Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD) pathway from the Reactome Pathways dataset.

Defective HLCS causes multiple carboxylase deficiency Gene Set

From Reactome Pathways

proteins participating in the Defective HLCS causes multiple carboxylase deficiency pathway from the Reactome Pathways dataset.

Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2 Gene Set

From Reactome Pathways

proteins participating in the Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2 pathway from the Reactome Pathways dataset.

Defective CYP11B1 causes Adrenal hyperplasia 4 (AH4) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP11B1 causes Adrenal hyperplasia 4 (AH4) pathway from the Reactome Pathways dataset.

Processing-defective Hh variants abrogate ligand secretion Gene Set

From Reactome Pathways

proteins participating in the Processing-defective Hh variants abrogate ligand secretion pathway from the Reactome Pathways dataset.