Name

<strong>proteinstrong> s deficiency; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; <strong>proteinstrong> c deficiency; <strong>proteinstrong> 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.

factor v deficiency; hypoprothrombinemias; <strong>proteinstrong> c deficiency; <strong>proteinstrong> s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

Thrombophilia due to <strong>proteinstrong> S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Thrombophilia, hereditary, due to <strong>proteinstrong> C deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Thrombophilia, hereditary, due to <strong>proteinstrong> C deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

activated <strong>proteinstrong> 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 <strong>proteinstrong> 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.

thrombophilia due to <strong>proteinstrong> s deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

thrombophilia due to <strong>proteinstrong> s deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

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

thrombophilia due to <strong>proteinstrong> c deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

thrombophilia due to <strong>proteinstrong> c deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

ahg deficiency disease; hemophilia a; hemorrhage; 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.

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.

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 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 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 due to activated <strong>proteinstrong> C resistance Gene Set

From ClinVar Gene-Phenotype Associations

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

Thrombophilia due to Activated <strong>Proteinstrong> C Resistance Gene Set

From CTD Gene-Disease Associations

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

activated <strong>proteinstrong> c resistance; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

activated <strong>proteinstrong> c resistance; complication, cardiovascular pregnancy; pregnancy complications, cardiovascular; puerperal disorders; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

activated <strong>proteinstrong> c resistance; postoperative complications; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated <strong>proteinstrong> 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.

activated <strong>proteinstrong> c resistance; thrombophilia; thrombosis; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

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

activated <strong>proteinstrong> c resistance; recurrence; thromboembolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

activated <strong>proteinstrong> c resistance; blood coagulation disorders, inherited; femur head necrosis; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

abortion, habitual; abruptio placentae; activated <strong>proteinstrong> c resistance; placenta abruptio; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

activated <strong>proteinstrong> c resistance; homocystinuria; hyperhomocysteinemia; muscle spasticity; sepsis; septic shock; shock, septic; systemic infection; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

activated <strong>proteinstrong> c resistance; cardiovascular diseases; polycythemia vera; recurrence; thrombocythemia, hemorrhagic; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

coagulation <strong>proteinstrong> disorders; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

abortion, habitual; activated <strong>proteinstrong> c resistance; infertility, female; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

activated <strong>proteinstrong> c resistance; multiple myeloma; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

activated <strong>proteinstrong> c resistance; peripheral vascular diseases; recurrence; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

activated <strong>proteinstrong> 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 <strong>proteinstrong> 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.

activated <strong>proteinstrong> c resistance; hyperhomocysteinemia; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

activated <strong>proteinstrong> c resistance; infection; neoplasms; thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

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

activated <strong>proteinstrong> c resistance; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

activated <strong>proteinstrong> c resistance; coronary disease; coronary heart disease; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

activated <strong>proteinstrong> c resistance; thromboembolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

activated <strong>proteinstrong> c resistance; hemochromatosis; iron overload; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

activated <strong>proteinstrong> c resistance; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

thrombophilia due to activated <strong>proteinstrong> c resistance Gene Set

From OMIM Gene-Disease Associations

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

Neuraminidase deficiency with beta-galactosidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

choline deficiency; dna damage; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease choline deficiency; dna damage; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

anemia, iron-deficiency; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Set

From Reactome Pathways

<strong>proteinstrong>s participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset.

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

From Reactome Pathways

<strong>proteinstrong>s participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset.

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

From Reactome Pathways

<strong>proteinstrong>s participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset.

Thrombophilia, histidine-rich glyco<strong>proteinstrong>-related Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, histidine-rich glyco<strong>proteinstrong>-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to thrombomodulin defect Gene Set

From ClinVar Gene-Phenotype Associations

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

Thrombophilia Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Thrombophilia from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Thrombophilia, hereditary Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Thrombophilia, hereditary from the curated CTD Gene-Disease Associations dataset.

Thrombophilia Due To Elevated Histidine-Rich Glyco<strong>proteinstrong> Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

thrombophilias Gene Set

From GeneRIF Biological Term Annotations

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

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.

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

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.

Trifunctional <strong>proteinstrong> deficiency with myopathy and neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trifunctional <strong>proteinstrong> deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E3-binding <strong>proteinstrong> deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E3-binding <strong>proteinstrong> deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sphingolipid activator <strong>proteinstrong> 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sphingolipid activator <strong>proteinstrong> 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial trifunctional <strong>proteinstrong> deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial trifunctional <strong>proteinstrong> deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mannose-binding <strong>proteinstrong> deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mannose-binding <strong>proteinstrong> deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

<strong>Proteinstrong> S deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the <strong>Proteinstrong> S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital thrombotic disease, due to <strong>Proteinstrong> C deficiency Gene Set

From CTD Gene-Disease Associations

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

Trifunctional <strong>Proteinstrong> Deficiency With Myopathy And Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Trifunctional <strong>Proteinstrong> Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset.

<strong>Proteinstrong> Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease <strong>Proteinstrong> Deficiency from the curated CTD Gene-Disease Associations dataset.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease D-BIFUNCTIONAL PROTEIN DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase E3-Binding <strong>Proteinstrong> Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Pyruvate Dehydrogenase E3-Binding <strong>Proteinstrong> Deficiency from the curated CTD Gene-Disease Associations dataset.

<strong>Proteinstrong> C Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease <strong>Proteinstrong> C Deficiency from the curated CTD Gene-Disease Associations dataset.

<strong>proteinstrong> s deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease <strong>proteinstrong> s deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

<strong>proteinstrong> c deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease <strong>proteinstrong> c deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

b cell linker <strong>proteinstrong> deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease b cell linker <strong>proteinstrong> deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

<strong>proteinstrong> s deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease <strong>proteinstrong> s deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

<strong>proteinstrong> c deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease <strong>proteinstrong> c deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

<strong>proteinstrong>-deficiency anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease <strong>proteinstrong>-deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

free <strong>proteinstrong> s (type iia) deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease free <strong>proteinstrong> s (type iia) deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

<strong>proteinstrong> deficiency; recurrence; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

<strong>proteinstrong> s deficiency Gene Set

From GAD Gene-Disease Associations

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

hereditary <strong>proteinstrong> c deficiency Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

apnea; apoplexy; blood coagulation disorders; brain ischemia; cerebrovascular disorders; hypotony, muscle; muscle hypotonia; <strong>proteinstrong> c deficiency; seizures; stroke; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apnea; apoplexy; blood coagulation disorders; brain ischemia; cerebrovascular disorders; hypotony, muscle; muscle hypotonia; <strong>proteinstrong> c deficiency; seizures; stroke; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

<strong>proteinstrong> c deficiency Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease <strong>proteinstrong> c deficiency in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

<strong>Proteinstrong> Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the <strong>Proteinstrong> Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

<strong>Proteinstrong> S Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the <strong>Proteinstrong> S Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

<strong>Proteinstrong> C Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the <strong>Proteinstrong> C Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

trifunctional <strong>proteinstrong> deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the trifunctional <strong>proteinstrong> deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

[<strong>proteinstrong> z deficiency] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [<strong>proteinstrong> z deficiency] phenotype from the curated OMIM Gene-Disease Associations dataset.

d-bifunctional <strong>proteinstrong> deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the d-bifunctional <strong>proteinstrong> deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

negative regulation of <strong>proteinstrong> ubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of <strong>proteinstrong> ubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process biological process from the curated GO Biological Process Annotations dataset.

<strong>proteinstrong> modification by small <strong>proteinstrong> conjugation Gene Set

From GO Biological Process Annotations

genes participating in the <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation biological process from the curated GO Biological Process Annotations dataset.

positive regulation of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway biological process from the curated GO Biological Process Annotations dataset.

<strong>proteinstrong> maturation by <strong>proteinstrong> folding Gene Set

From GO Biological Process Annotations

genes participating in the <strong>proteinstrong> maturation by <strong>proteinstrong> folding biological process from the curated GO Biological Process Annotations dataset.

<strong>proteinstrong> targeting to vacuole involved in ubiquitin-dependent <strong>proteinstrong> catabolic process via the multivesicular body sorting pathway Gene Set

From GO Biological Process Annotations

genes participating in the <strong>proteinstrong> targeting to vacuole involved in ubiquitin-dependent <strong>proteinstrong> catabolic process via the multivesicular body sorting pathway biological process from the curated GO Biological Process Annotations dataset.

negative regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal biological process from the curated GO Biological Process Annotations dataset.

negative regulation of <strong>proteinstrong> kinase activity by regulation of <strong>proteinstrong> phosphorylation Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of <strong>proteinstrong> kinase activity by regulation of <strong>proteinstrong> phosphorylation biological process from the curated GO Biological Process Annotations dataset.

regulation of <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion Gene Set

From GO Biological Process Annotations

genes participating in the regulation of <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion biological process from the curated GO Biological Process Annotations dataset.

negative regulation of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway biological process from the curated GO Biological Process Annotations dataset.

negative regulation of <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion biological process from the curated GO Biological Process Annotations dataset.

activation of signaling <strong>proteinstrong> activity involved in unfolded <strong>proteinstrong> response Gene Set

From GO Biological Process Annotations

genes participating in the activation of signaling <strong>proteinstrong> activity involved in unfolded <strong>proteinstrong> response biological process from the curated GO Biological Process Annotations dataset.

desensitization of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the desensitization of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway biological process from the curated GO Biological Process Annotations dataset.

positive regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal biological process from the curated GO Biological Process Annotations dataset.

<strong>proteinstrong> ubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the <strong>proteinstrong> ubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process biological process from the curated GO Biological Process Annotations dataset.

positive regulation of <strong>proteinstrong> ubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of <strong>proteinstrong> ubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process biological process from the curated GO Biological Process Annotations dataset.

<strong>proteinstrong> deubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the <strong>proteinstrong> deubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process biological process from the curated GO Biological Process Annotations dataset.

regulation of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the regulation of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway biological process from the curated GO Biological Process Annotations dataset.

regulation of <strong>proteinstrong> ubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the regulation of <strong>proteinstrong> ubiquitination involved in ubiquitin-dependent <strong>proteinstrong> catabolic process biological process from the curated GO Biological Process Annotations dataset.

<strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion Gene Set

From GO Biological Process Annotations

genes participating in the <strong>proteinstrong> processing involved in <strong>proteinstrong> targeting to mitochondrion biological process from the curated GO Biological Process Annotations dataset.

regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal Gene Set

From GO Biological Process Annotations

genes participating in the regulation of <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal biological process from the curated GO Biological Process Annotations dataset.

<strong>proteinstrong> kinase c-activating g-<strong>proteinstrong> coupled receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the <strong>proteinstrong> kinase c-activating g-<strong>proteinstrong> coupled receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

desensitization of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway by arrestin Gene Set

From GO Biological Process Annotations

genes participating in the desensitization of g-<strong>proteinstrong> coupled receptor <strong>proteinstrong> signaling pathway by arrestin biological process from the curated GO Biological Process Annotations dataset.

<strong>proteinstrong> modification by small <strong>proteinstrong> removal Gene Set

From GO Biological Process Annotations

genes participating in the <strong>proteinstrong> modification by small <strong>proteinstrong> removal biological process from the curated GO Biological Process Annotations dataset.

<strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal Gene Set

From GO Biological Process Annotations

genes participating in the <strong>proteinstrong> modification by small <strong>proteinstrong> conjugation or removal biological process from the curated GO Biological Process Annotations dataset.

<strong>proteinstrong> binding involved in <strong>proteinstrong> folding Gene Set

From GO Molecular Function Annotations

genes performing the <strong>proteinstrong> binding involved in <strong>proteinstrong> folding molecular function from the curated GO Molecular Function Annotations dataset.

Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 54 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 54 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Myelin <strong>proteinstrong> zero-like <strong>proteinstrong> 1 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Myelin <strong>proteinstrong> zero-like <strong>proteinstrong> 1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Myelin <strong>proteinstrong> zero-like <strong>proteinstrong> 2 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Myelin <strong>proteinstrong> zero-like <strong>proteinstrong> 2 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Myelin <strong>proteinstrong> zero-like <strong>proteinstrong> 3 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Myelin <strong>proteinstrong> zero-like <strong>proteinstrong> 3 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Tumour <strong>proteinstrong> p53-inducible nuclear <strong>proteinstrong> Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Tumour <strong>proteinstrong> p53-inducible nuclear <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

ADP-ribosylation factor-like <strong>proteinstrong> 6-interacting <strong>proteinstrong> 6 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the ADP-ribosylation factor-like <strong>proteinstrong> 6-interacting <strong>proteinstrong> 6 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Dyslexia-associated <strong>proteinstrong> KIAA0319-like <strong>proteinstrong> Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Dyslexia-associated <strong>proteinstrong> KIAA0319-like <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Small proline-rich <strong>proteinstrong>/late cornified envelope <strong>proteinstrong> Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Small proline-rich <strong>proteinstrong>/late cornified envelope <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

<strong>Proteinstrong> kinase A anchor <strong>proteinstrong>, RI-RII subunit-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the <strong>Proteinstrong> kinase A anchor <strong>proteinstrong>, RI-RII subunit-binding domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Guanine nucleotide binding <strong>proteinstrong> (G-<strong>proteinstrong>), alpha subunit Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Guanine nucleotide binding <strong>proteinstrong> (G-<strong>proteinstrong>), alpha subunit <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

<strong>Proteinstrong> transport <strong>proteinstrong> SecG/Sec61-beta/Sbh Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the <strong>Proteinstrong> transport <strong>proteinstrong> SecG/Sec61-beta/Sbh <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

<strong>Proteinstrong> of unknown function DUF3669, zinc finger <strong>proteinstrong> Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the <strong>Proteinstrong> of unknown function DUF3669, zinc finger <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

50S ribosomal <strong>proteinstrong> L18Ae/60S ribosomal <strong>proteinstrong> L20 and L18a Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the 50S ribosomal <strong>proteinstrong> L18Ae/60S ribosomal <strong>proteinstrong> L20 and L18a <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Cleft lip and palate transmembrane <strong>proteinstrong> 1-like <strong>proteinstrong> Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Cleft lip and palate transmembrane <strong>proteinstrong> 1-like <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Pre-rRNA-processing <strong>proteinstrong> IPI1/Testis-expressed sequence 10 <strong>proteinstrong> Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Pre-rRNA-processing <strong>proteinstrong> IPI1/Testis-expressed sequence 10 <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Tumor <strong>proteinstrong> p53-inducible <strong>proteinstrong> 11 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Tumor <strong>proteinstrong> p53-inducible <strong>proteinstrong> 11 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

V-set and transmembrane domain-containing <strong>proteinstrong> 2-like <strong>proteinstrong> Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the V-set and transmembrane domain-containing <strong>proteinstrong> 2-like <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Actin-related <strong>proteinstrong> 2/3 complex subunit 5-like <strong>proteinstrong> Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Actin-related <strong>proteinstrong> 2/3 complex subunit 5-like <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

GTP-binding <strong>proteinstrong> TrmE/Glycine cleavage system T <strong>proteinstrong>, domain 1 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the GTP-binding <strong>proteinstrong> TrmE/Glycine cleavage system T <strong>proteinstrong>, domain 1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Insulin-like growth factor binding <strong>proteinstrong>-related <strong>proteinstrong> (IGFBP-rP), MAC25 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Insulin-like growth factor binding <strong>proteinstrong>-related <strong>proteinstrong> (IGFBP-rP), MAC25 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 13 domain Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 13 domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

EH domain-binding <strong>proteinstrong> 1-like <strong>proteinstrong> 1 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the EH domain-binding <strong>proteinstrong> 1-like <strong>proteinstrong> 1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

SWR1-complex <strong>proteinstrong> 5/Craniofacial development <strong>proteinstrong> Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the SWR1-complex <strong>proteinstrong> 5/Craniofacial development <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

DMRT/<strong>proteinstrong> doublesex/<strong>proteinstrong> male abnormal 3 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the DMRT/<strong>proteinstrong> doublesex/<strong>proteinstrong> male abnormal 3 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Vacuolar <strong>proteinstrong> sorting <strong>proteinstrong> 36, GLUE domain Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting <strong>proteinstrong> 36, GLUE domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Ribosomal <strong>proteinstrong> L7/L12, C-terminal/adaptor <strong>proteinstrong> ClpS-like Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Ribosomal <strong>proteinstrong> L7/L12, C-terminal/adaptor <strong>proteinstrong> ClpS-like <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

UV radiation resistance <strong>proteinstrong>/autophagy-related <strong>proteinstrong> 14 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the UV radiation resistance <strong>proteinstrong>/autophagy-related <strong>proteinstrong> 14 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Four-jointed box <strong>proteinstrong> 1/four-jointed <strong>proteinstrong> Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Four-jointed box <strong>proteinstrong> 1/four-jointed <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

G <strong>proteinstrong>-coupled receptor kinase-interacting <strong>proteinstrong> 1 C term Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the G <strong>proteinstrong>-coupled receptor kinase-interacting <strong>proteinstrong> 1 C term <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Coiled-coil domain-containing <strong>proteinstrong> 18/Cytoskeletal <strong>proteinstrong> Sojo Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Coiled-coil domain-containing <strong>proteinstrong> 18/Cytoskeletal <strong>proteinstrong> Sojo <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Ribosomal RNA-processing <strong>proteinstrong> 14/surfeit locus <strong>proteinstrong> 6, C-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Ribosomal RNA-processing <strong>proteinstrong> 14/surfeit locus <strong>proteinstrong> 6, C-terminal domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Kinetochore <strong>proteinstrong> Cenp-F/LEK1, Rb <strong>proteinstrong>-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Kinetochore <strong>proteinstrong> Cenp-F/LEK1, Rb <strong>proteinstrong>-binding domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 13A N-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 13A N-terminal domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

SWR1-complex <strong>proteinstrong> 4/DNA methyltransferase 1-associated <strong>proteinstrong> 1 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the SWR1-complex <strong>proteinstrong> 4/DNA methyltransferase 1-associated <strong>proteinstrong> 1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Vacuolar <strong>proteinstrong> sorting <strong>proteinstrong> 26 related Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting <strong>proteinstrong> 26 related <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Tumor <strong>proteinstrong> p53-inducible nuclear <strong>proteinstrong> 1 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Tumor <strong>proteinstrong> p53-inducible nuclear <strong>proteinstrong> 1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 41 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 41 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Bone morphogenetic <strong>proteinstrong> 1/tolloid-like <strong>proteinstrong> Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Bone morphogenetic <strong>proteinstrong> 1/tolloid-like <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Synaptonemal complex <strong>proteinstrong> 2/<strong>proteinstrong> 2-like Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Synaptonemal complex <strong>proteinstrong> 2/<strong>proteinstrong> 2-like <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Sterol regulatory element-binding <strong>proteinstrong> cleavage-activating <strong>proteinstrong> Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Sterol regulatory element-binding <strong>proteinstrong> cleavage-activating <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Polyadenylate-binding <strong>proteinstrong>/Hyperplastic disc <strong>proteinstrong> Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Polyadenylate-binding <strong>proteinstrong>/Hyperplastic disc <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Uncharacterised <strong>proteinstrong> family WW domain-binding <strong>proteinstrong> 1 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Uncharacterised <strong>proteinstrong> family WW domain-binding <strong>proteinstrong> 1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Receptor-transporting <strong>proteinstrong>/CXXC-type zinc finger <strong>proteinstrong> 11 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Receptor-transporting <strong>proteinstrong>/CXXC-type zinc finger <strong>proteinstrong> 11 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Receptor tyrosine-<strong>proteinstrong> phosphatase C-associated <strong>proteinstrong> CD45-AP Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Receptor tyrosine-<strong>proteinstrong> phosphatase C-associated <strong>proteinstrong> CD45-AP <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 8, central domain Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 8, central domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Growth arrest/ DNA-damage-inducible <strong>proteinstrong>-interacting <strong>proteinstrong> 1 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Growth arrest/ DNA-damage-inducible <strong>proteinstrong>-interacting <strong>proteinstrong> 1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 16 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 16 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Vacuolar <strong>proteinstrong> sorting-associate <strong>proteinstrong> Vta1/Callose synthase, N-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associate <strong>proteinstrong> Vta1/Callose synthase, N-terminal domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Probable cytosolic iron-sulfur <strong>proteinstrong> assembly <strong>proteinstrong>, CIAO1/Cia1 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Probable cytosolic iron-sulfur <strong>proteinstrong> assembly <strong>proteinstrong>, CIAO1/Cia1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Outer membrane <strong>proteinstrong> Iml2/Tetratricopeptide repeat <strong>proteinstrong> 39 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Outer membrane <strong>proteinstrong> Iml2/Tetratricopeptide repeat <strong>proteinstrong> 39 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Vesicle-associated membrane <strong>proteinstrong>-associated <strong>proteinstrong> B Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Vesicle-associated membrane <strong>proteinstrong>-associated <strong>proteinstrong> B <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Vesicle-associated membrane <strong>proteinstrong>-associated <strong>proteinstrong> A Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Vesicle-associated membrane <strong>proteinstrong>-associated <strong>proteinstrong> A <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

<strong>Proteinstrong> LIN-9/<strong>Proteinstrong> ALWAYS EARLY Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the <strong>Proteinstrong> LIN-9/<strong>Proteinstrong> ALWAYS EARLY <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Steroid receptor RNA activator-<strong>proteinstrong>/coat <strong>proteinstrong> complex II, Sec31 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Steroid receptor RNA activator-<strong>proteinstrong>/coat <strong>proteinstrong> complex II, Sec31 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 35, Vps35 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 35, Vps35 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Tumor <strong>proteinstrong> p53-inducible nuclear <strong>proteinstrong> 2 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Tumor <strong>proteinstrong> p53-inducible nuclear <strong>proteinstrong> 2 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

<strong>Proteinstrong> of unknown function DUF3697, ubiquitin-associated <strong>proteinstrong> 2 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the <strong>Proteinstrong> of unknown function DUF3697, ubiquitin-associated <strong>proteinstrong> 2 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Retinoic acid-induced <strong>proteinstrong> 2/sine oculis-binding <strong>proteinstrong> homologue Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Retinoic acid-induced <strong>proteinstrong> 2/sine oculis-binding <strong>proteinstrong> homologue <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Tetracycline resistance <strong>proteinstrong>, TetA/multidrug resistance <strong>proteinstrong> MdtG Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Tetracycline resistance <strong>proteinstrong>, TetA/multidrug resistance <strong>proteinstrong> MdtG <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

TYRO <strong>proteinstrong> tyrosine kinase-binding <strong>proteinstrong> Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the TYRO <strong>proteinstrong> tyrosine kinase-binding <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Proline/serine-rich coiled-coil <strong>proteinstrong> 1/G2 and S phase-expressed <strong>proteinstrong> 1 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Proline/serine-rich coiled-coil <strong>proteinstrong> 1/G2 and S phase-expressed <strong>proteinstrong> 1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Usher syndrome type-1C <strong>proteinstrong>-binding <strong>proteinstrong> 1, PDZ domain Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Usher syndrome type-1C <strong>proteinstrong>-binding <strong>proteinstrong> 1, PDZ domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Ribosomal <strong>proteinstrong> L1/ribosomal biogenesis <strong>proteinstrong> Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Ribosomal <strong>proteinstrong> L1/ribosomal biogenesis <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Actin-related <strong>proteinstrong> 8/Plant actin-related <strong>proteinstrong> 9 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Actin-related <strong>proteinstrong> 8/Plant actin-related <strong>proteinstrong> 9 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Regulator of G-<strong>proteinstrong> signalling 9-binding <strong>proteinstrong> Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Regulator of G-<strong>proteinstrong> signalling 9-binding <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 11 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 11 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 13 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 13 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Vesicle-associated membrane-<strong>proteinstrong>-associated <strong>proteinstrong> Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Vesicle-associated membrane-<strong>proteinstrong>-associated <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Vacuolar <strong>proteinstrong> sorting <strong>proteinstrong> 11, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting <strong>proteinstrong> 11, C-terminal <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

cAMP-responsive element-binding <strong>proteinstrong> 3-like <strong>proteinstrong> 4 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the cAMP-responsive element-binding <strong>proteinstrong> 3-like <strong>proteinstrong> 4 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

cAMP-responsive element-binding <strong>proteinstrong> 3-like <strong>proteinstrong> 1 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the cAMP-responsive element-binding <strong>proteinstrong> 3-like <strong>proteinstrong> 1 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

cAMP-responsive element-binding <strong>proteinstrong> 3-like <strong>proteinstrong> 3 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the cAMP-responsive element-binding <strong>proteinstrong> 3-like <strong>proteinstrong> 3 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

cAMP-responsive element-binding <strong>proteinstrong> 3-like <strong>proteinstrong> 2 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the cAMP-responsive element-binding <strong>proteinstrong> 3-like <strong>proteinstrong> 2 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 33 Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Vacuolar <strong>proteinstrong> sorting-associated <strong>proteinstrong> 33 <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

<strong>Proteinstrong> kinase A anchor <strong>proteinstrong>, nuclear localisation signal domain Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the <strong>Proteinstrong> kinase A anchor <strong>proteinstrong>, nuclear localisation signal domain <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

Spermatogenesis-associated <strong>proteinstrong> 2-like <strong>proteinstrong> Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the Spermatogenesis-associated <strong>proteinstrong> 2-like <strong>proteinstrong> <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

A-kinase anchor <strong>proteinstrong> 6/Centrosomal <strong>proteinstrong> of 68kDa Gene Set

From InterPro Predicted Protein Domain Annotations

<strong>proteinstrong>s predicted to have the A-kinase anchor <strong>proteinstrong> 6/Centrosomal <strong>proteinstrong> of 68kDa <strong>proteinstrong> domain from the InterPro Predicted <strong>Proteinstrong> Domain Annotations dataset.

PodNet: <strong>proteinstrong>-<strong>proteinstrong> interactions in the podocyte(Mus musculus) Gene Set

From Wikipathways Pathways

<strong>proteinstrong>s participating in the PodNet: <strong>proteinstrong>-<strong>proteinstrong> interactions in the podocyte(Mus musculus) pathway from the Wikipathways Pathways dataset.

XPodNet - <strong>proteinstrong>-<strong>proteinstrong> interactions in the podocyte expanded by STRING(Mus musculus) Gene Set

From Wikipathways Pathways

<strong>proteinstrong>s participating in the XPodNet - <strong>proteinstrong>-<strong>proteinstrong> interactions in the podocyte expanded by STRING(Mus musculus) pathway from the Wikipathways Pathways dataset.

Bifunctional peroxisomal enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bifunctional peroxisomal enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked ichthyosis with steryl-sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked ichthyosis with steryl-sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoglycerate dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoglycerate dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Galactosylceramide beta-galactosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Galactosylceramide beta-galactosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isolated 17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isolated 17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Endplate acetylcholinesterase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Endplate acetylcholinesterase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sepiapterin reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E2 deficiency phenotype from the curated ClinVar 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.

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of ribose-5-phosphate isomerase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of ribose-5-phosphate isomerase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kininogen deficiency, total Gene Set

From ClinVar Gene-Phenotype Associations

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

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 6-pyruvoyl-tetrahydropterin synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

N-terminal acetyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the N-terminal acetyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Creatine deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Creatine deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Birbeck granule deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Birbeck granule deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency 4 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.

Properdin deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Properdin deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PROPERDIN DEFICIENCY, TYPE II Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PROPERDIN DEFICIENCY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement factor d deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement factor d deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methylmalonyl-CoA epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 8 deficiency type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 8 deficiency type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Testosterone 17-beta-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Testosterone 17-beta-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acyl-CoA dehydrogenase family, member 9, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acyl-CoA dehydrogenase family, member 9, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of 2-methylbutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of 2-methylbutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of isobutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of isobutyryl-CoA dehydrogenase 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.

Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral folate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral folate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoserine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoserine aminotransferase deficiency 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.

Carnitine acylcarnitine translocase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine acylcarnitine translocase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Partial hypoxanthine-guanine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Succinyl-CoA acetoacetate transferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Succinyl-CoA acetoacetate transferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine palmitoyltransferase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine palmitoyltransferase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex I 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.

Platelet-activating factor acetylhydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet-activating factor acetylhydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary C1 esterase inhibitor deficiency - dysfunctional factor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lipase deficiency combined Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lipase deficiency combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

5-Oxoprolinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 5-Oxoprolinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency with achalasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency with achalasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proopiomelanocortin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Intrinsic factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Intrinsic factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

21-hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutaryl-CoA oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutaryl-CoA oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosterone methyloxidase type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosterone methyloxidase type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thiopurine methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thiopurine methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the METHYLCOBALAMIN DEFICIENCY, cblG TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine palmitoyltransferase II deficiency, infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine palmitoyltransferase II deficiency, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lactate dehydrogenase b deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lactate dehydrogenase b deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of 3-hydroxyacyl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of 3-hydroxyacyl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Plasminogen deficiency, type I Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Biotinidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal dominant isolated somatotropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant isolated somatotropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypohidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypohidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of phosphoserine phosphatase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of phosphoserine phosphatase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isolated growth hormone deficiency type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isolated growth hormone deficiency type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of butyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of butyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anhidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anhidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3 Methylcrotonyl-CoA carboxylase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3 Methylcrotonyl-CoA carboxylase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of hyaluronoglucosaminidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of hyaluronoglucosaminidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sulfite oxidase deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sulfite oxidase deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Plasminogen activator inhibitor type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Plasminogen activator inhibitor type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 22 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 20 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 21 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monoamine oxidase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monoamine oxidase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor V deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor V deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenine phosphoribosyltransferase 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.

Glutamate formiminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutamate formiminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypoglycemia with deficiency of glycogen synthetase in the liver Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoglycemia with deficiency of glycogen synthetase in the liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LEUKOCYTE ADHESION DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LEUKOCYTE ADHESION DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Follicle-stimulating hormone deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Follicle-stimulating hormone deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ganglioside sialidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ganglioside sialidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

C1q deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the C1q deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Interferon gamma receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Interferon gamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Platelet glyco<strong>proteinstrong> IV deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet glyco<strong>proteinstrong> IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

N-acetylaspartate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the N-acetylaspartate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Triosephosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Triosephosphate isomerase 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.

Aromatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary factor II deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor II deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor xiii, a subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor xiii, a subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency, nuclear type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency, nuclear type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency, nuclear type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency, nuclear type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-methylcrotonyl CoA carboxylase 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Multiple sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosteroid-binding globulin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosteroid-binding globulin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosterone methyloxidase type 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosterone methyloxidase type 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 9 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Holocarboxylase synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Holocarboxylase synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

2,4-Dienoyl-CoA reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 2,4-Dienoyl-CoA reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of glycerate kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerate kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia with vitamin E deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia with vitamin E deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of galactokinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of galactokinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ACTH deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

PROPERDIN DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PROPERDIN DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carboxylesterase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carboxylesterase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Purine-nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neonatal intrahepatic cholestasis caused by citrin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neonatal intrahepatic cholestasis caused by citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Antithrombin III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Antithrombin III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inosine triphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inosine triphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth hormone deficiency with pituitary anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth hormone deficiency with pituitary anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ulna and fibula absence of with severe limb deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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.

Deficiency of pyrroline-5-carboxylate reductase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of pyrroline-5-carboxylate reductase 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.

Sarcosine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sarcosine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor v and factor viii, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Branched-chain ketoacid dehydrogenase kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branched-chain ketoacid dehydrogenase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

L-ferritin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the L-ferritin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Medium-chain acyl-coenzyme A dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Medium-chain acyl-coenzyme A dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arginase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hepatic lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hepatic lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor IX deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor IX deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alpha-feto<strong>proteinstrong> deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alpha-feto<strong>proteinstrong> 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.

Vitamin k-dependent clotting factors, combined deficiency of, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of iodide peroxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of iodide peroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycosylphosphatidylinositol deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Vitamin k-dependent clotting factors, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukocyte adhesion deficiency type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukocyte adhesion deficiency type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital lactase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Caspase-8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Caspase-8 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.

Phosphoglycerate kinase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anaphylotoxin inactivator deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anaphylotoxin inactivator deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cytochrome-c oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cytochrome-c oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Enterokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency, primary, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Erythrocyte amp deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Erythrocyte amp deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor VII deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor VII deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Apolipo<strong>proteinstrong> a-i deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Apolipo<strong>proteinstrong> a-i deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-aminobutyric acid transaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-aminobutyric acid transaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myeloperoxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial phosphate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial phosphate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor XI deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor XI deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Porphobilinogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Porphobilinogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Very long chain acyl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Very long chain acyl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

IRAK4 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the IRAK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukocyte adhesion deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukocyte adhesion deficiency 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.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortisone reductase deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortisone reductase deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arginine:glycine amidinotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arginine:glycine amidinotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscle AMP deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscle AMP deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dihydropyrimidinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Dimethylglycine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dimethylglycine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of hydroxymethylglutaryl-CoA lyase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of hydroxymethylglutaryl-CoA lyase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E1-alpha deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E1-alpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isovaleryl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isovaleryl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cd59 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cd59 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ornithine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ornithine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of ferroxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of ferroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of steroid 11-beta-monooxygenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of steroid 11-beta-monooxygenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lysosomal acid lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lysosomal acid lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dopamine beta hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dopamine beta hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Butyrylcholinesterase deficiency, fluoride-resistant, japanese type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Butyrylcholinesterase deficiency, fluoride-resistant, japanese type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

UDPglucose-4-epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the UDPglucose-4-epimerase 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.

Deficiency of alpha-mannosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of alpha-mannosidase 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.

Insulin-like growth factor I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Insulin-like growth factor I 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.

Pituitary hormone deficiency, combined 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 1 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.

Pyruvate carboxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gluthathione synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gluthathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fumarase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of transaldolase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of transaldolase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial pyruvate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial pyruvate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E1-beta deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E1-beta deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MASP2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MASP2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Argininosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Argininosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prekallikrein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Chitotriosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anti-plasmin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Prothrombin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

GTP cyclohydrolase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the GTP cyclohydrolase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of malonyl-CoA decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of malonyl-CoA decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3 beta-Hydroxysteroid dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3 beta-Hydroxysteroid dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Succinate-semialdehyde dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Succinate-semialdehyde dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked agammaglobulinemia with growth hormone deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked agammaglobulinemia with growth hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Okt4 epitope deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Okt4 epitope deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of acetyl-CoA acetyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of acetyl-CoA acetyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mineralocorticoid deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement 1s deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement 1s deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dihydropteridine reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dihydropteridine reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucose transporter type 1 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Myd88 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myd88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cd8 deficiency, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cd8 deficiency, familial 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.

Acid-labile subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fructose-biphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fructose-biphosphatase 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.

Complement factor B deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement factor B 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.

Beta-hydroxyisobutyryl-CoA deacylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Beta-hydroxyisobutyryl-CoA deacylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor VIII deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor VIII deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proline dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proline dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor H deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor H deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutamine deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of aromatic-L-amino-acid decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of aromatic-L-amino-acid decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycine N-methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycine N-methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ornithine carbamoyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ornithine carbamoyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sucrase-isomaltase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sucrase-isomaltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cholesterol monooxygenase (side-chain cleaving) deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cholesterol monooxygenase (side-chain cleaving) deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fucosyltransferase 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fucosyltransferase 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Asparagine synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Asparagine synthetase 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.

Pituitary hormone deficiency, combined, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of butyrylcholine esterase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of butyrylcholine esterase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of glycerol kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerol kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of xanthine oxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of xanthine oxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Urocanate hydratase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Urocanate hydratase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

4-Hydroxyphenylpyruvate dioxygenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 4-Hydroxyphenylpyruvate dioxygenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of factor V and factor VIII, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor xiii, b subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor xiii, b subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth deficiency and mental retardation with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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.

Combined deficiency of sialidase AND beta galactosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of (R)-20-hydroxysteroid dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of (R)-20-hydroxysteroid dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prolidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of beta-ureidopropionase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of beta-ureidopropionase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of guanidinoacetate methyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of guanidinoacetate methyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MYD88 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease MYD88 Deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal from the curated CTD Gene-Disease Associations dataset.

Anemia, Iron-Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Anemia, Iron-Deficiency from the curated CTD Gene-Disease Associations dataset.

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

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

Platelet Glyco<strong>proteinstrong> IV Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Platelet Glyco<strong>proteinstrong> IV Deficiency from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Phosphate Carrier Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Mitochondrial Phosphate Carrier Deficiency from the curated CTD Gene-Disease Associations dataset.

Leukocyte Adhesion Deficiency, Type III Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Leukocyte Adhesion Deficiency, Type III from the curated CTD Gene-Disease Associations dataset.

Prekallikrein Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Prekallikrein Deficiency from the curated CTD Gene-Disease Associations dataset.

Methylenetetrahydrofolate reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Methylenetetrahydrofolate reductase deficiency from the curated CTD Gene-Disease Associations dataset.

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease 6-pyruvoyl-tetrahydropterin synthase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor XI Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Factor XI Deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine palmitoyl transferase 1A deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Carnitine palmitoyl transferase 1A deficiency from the curated CTD Gene-Disease Associations dataset.

Preaxial deficiency, postaxial polydactyly and hypospadias Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset.

THYROTROPIN-RELEASING HORMONE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease THYROTROPIN-RELEASING HORMONE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Carbamoyl-Phosphate Synthase I Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Tyrosine Kinase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Tyrosine Kinase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Properdin deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Properdin deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

COENZYME Q10 DEFICIENCY, PRIMARY, 1 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease COENZYME Q10 DEFICIENCY, PRIMARY, 1 from the curated CTD Gene-Disease Associations dataset.

Glutathione synthetase deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Glutathione synthetase deficiency from the curated CTD Gene-Disease Associations dataset.

Glucocorticoid Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Glucocorticoid Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Aniridia cerebellar ataxia mental deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Aniridia cerebellar ataxia mental deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Combined Oxidative Phosphorylation Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Proopiomelanocortin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Proopiomelanocortin Deficiency from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Glucocorticoid Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Glucocorticoid Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Intrinsic Factor Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Intrinsic Factor Deficiency from the curated CTD Gene-Disease Associations dataset.

Adenosine monophosphate deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Adenosine monophosphate deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

alpha 1-Antitrypsin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease alpha 1-Antitrypsin Deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Combined Oxidative Phosphorylation Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Plasminogen Deficiency, Type I Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Plasminogen Deficiency, Type I from the curated CTD Gene-Disease Associations dataset.

IgA Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease IgA Deficiency from the curated CTD Gene-Disease Associations dataset.

Lipase deficiency combined Gene Set

From CTD Gene-Disease Associations

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

DNA Repair-Deficiency Disorders Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease DNA Repair-Deficiency Disorders from the curated CTD Gene-Disease Associations dataset.

Enterokinase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Enterokinase Deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Late-Onset Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Carnitine Palmitoyltransferase II Deficiency, Late-Onset from the curated CTD Gene-Disease Associations dataset.

Lactase Deficiency, Congenital Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Lactase Deficiency, Congenital from the curated CTD Gene-Disease Associations dataset.

Lecithin Acyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Lecithin Acyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Interleukin 2 Receptor, Alpha, Deficiency of Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Interleukin 2 Receptor, Alpha, Deficiency of from the curated CTD Gene-Disease Associations dataset.

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From CTD Gene-Disease Associations

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

Beta ketothiolase deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Beta ketothiolase deficiency from the curated CTD Gene-Disease Associations dataset.

Transaldolase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Transaldolase Deficiency from the curated CTD Gene-Disease Associations dataset.

Anti-plasmin deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

Succinyl-CoA:3-oxoacid CoA transferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Succinyl-CoA:3-oxoacid CoA transferase deficiency from the curated CTD Gene-Disease Associations dataset.

CD8 Deficiency, Familial Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease CD8 Deficiency, Familial from the curated CTD Gene-Disease Associations dataset.

Neuraminidase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Neuraminidase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Folic Acid Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Folic Acid Deficiency from the curated CTD Gene-Disease Associations dataset.

Lysosomal acid lipase deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Lysosomal acid lipase deficiency from the curated CTD Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From CTD Gene-Disease Associations

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

Vitamin B 12 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Vitamin B 12 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type II Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Isolated Growth Hormone Deficiency, Type II from the curated CTD Gene-Disease Associations dataset.

Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set

From CTD Gene-Disease Associations

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

Familial HDL deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Familial HDL deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine-Acylcarnitine Translocase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Carnitine-Acylcarnitine Translocase Deficiency from the curated CTD Gene-Disease Associations dataset.

Methylcobalamin Deficiency, CblG Type Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Methylcobalamin Deficiency, CblG Type from the curated CTD Gene-Disease Associations dataset.

Flaujeac factor deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Flaujeac factor deficiency from the curated CTD Gene-Disease Associations dataset.

Ribose 5-Phosphate Isomerase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Ribose 5-Phosphate Isomerase Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Pyruvate dehydrogenase phosphatase deficiency from the curated CTD Gene-Disease Associations dataset.

VLCAD deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease VLCAD deficiency from the curated CTD Gene-Disease Associations dataset.

18-Hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease 18-Hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Creatine deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Creatine deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Complex III Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Mitochondrial Complex III Deficiency from the curated CTD Gene-Disease Associations dataset.

PROPROTEIN CONVERTASE 1/3 DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease PROPROTEIN CONVERTASE 1/3 DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

dopamine beta hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease dopamine beta hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Ehlers-Danlos syndrome caused by tenascin-X deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Ehlers-Danlos syndrome caused by tenascin-X deficiency from the curated CTD Gene-Disease Associations dataset.

Growth mental deficiency syndrome of Myhre Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Growth mental deficiency syndrome of Myhre from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation With Long Bone Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Ornithine Carbamoyltransferase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Ornithine Carbamoyltransferase Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Factor 8 deficiency, acquired Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Factor 8 deficiency, acquired from the curated CTD Gene-Disease Associations dataset.

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease 3-methylcrotonyl CoA carboxylase 2 deficiency from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I from the curated CTD Gene-Disease Associations dataset.

Adenylosuccinate lyase deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Adenylosuccinate lyase deficiency from the curated CTD Gene-Disease Associations dataset.

Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of from the curated CTD Gene-Disease Associations dataset.

Thiopurine S methyltranferase deficiency Gene Set

From CTD Gene-Disease Associations

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

3-Hydroxyacyl-CoA Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type IB Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Isolated Growth Hormone Deficiency, Type IB from the curated CTD Gene-Disease Associations dataset.

Vitamin A Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Vitamin A Deficiency from the curated CTD Gene-Disease Associations dataset.

Molybdenum cofactor deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Molybdenum cofactor deficiency from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation With Long Bone Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Kinase 1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Phosphoglycerate Kinase 1 Deficiency from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

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

Multiple Acyl Coenzyme A Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene Set

From CTD Gene-Disease Associations

genes/<strong>proteinstrong>s associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6