Name

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.

Plasminogen Deficiency, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Deficiency, Type I from the curated CTD Gene-Disease Associations dataset.

plasminogen deficiency, type i Gene Set

From OMIM Gene-Disease Associations

genes associated with the plasminogen deficiency, type i phenotype from the curated OMIM Gene-Disease Associations dataset.

plasminogen activator inhibitor-1; tissue-type plasminogen activator Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasminogen activator inhibitor-1; tissue-type plasminogen activator in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasminogen activator; plasminogen activator inhibitor-type 1 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasminogen activator; plasminogen activator inhibitor-type 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

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.

Plasminogen Activator Inhibitor-1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Activator Inhibitor-1 Deficiency from the curated CTD Gene-Disease Associations dataset.

plasminogen activator inhibitor-1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the plasminogen activator inhibitor-1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Plasminogen activator inhibitor type 1 levels (PAI-1) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Plasminogen activator inhibitor type 1 levels (PAI-1) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

tissue type plasminogen activator-regulated; secretion Gene Set

From GAD Gene-Disease Associations

genes associated with the disease tissue type plasminogen activator-regulated; secretion in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

tissue-type plasminogen activator levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease tissue-type plasminogen activator levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Urokinase-type plasminogen activator (uPA) and uPAR-mediated signaling Gene Set

From PID Pathways

proteins participating in the Urokinase-type plasminogen activator (uPA) and uPAR-mediated signaling pathway from the PID Pathways dataset.

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

From CTD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

fibrinogen; factor vii; plasminogen activator inhibitor-1 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fibrinogen; factor vii; plasminogen activator inhibitor-1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasminogen activator inhibitor-1 concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasminogen activator inhibitor-1 concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasminogen activator inhibitor-1 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasminogen activator inhibitor-1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

circulating levels of plasminogen activator inhibitor-1 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease circulating levels of plasminogen activator inhibitor-1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma antigen levels of plasminogen activator inhibitor-1 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma antigen levels of plasminogen activator inhibitor-1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Plasminogen activator inhibitor 1 RNA-binding protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Plasminogen activator inhibitor 1 RNA-binding protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Plasminogen activator inhibitor-2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Plasminogen activator inhibitor-2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

{transcription of plasminogen activator inhibitor, modulator of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {transcription of plasminogen activator inhibitor, modulator of} phenotype from the curated OMIM 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.

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.

Tissue Plasminogen Activator Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Tissue Plasminogen Activator in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

plasminogen activator Gene Set

From GAD Gene-Disease Associations

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

plasminogen activator; fibrinolytic activities Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasminogen activator; fibrinolytic activities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

tissue plasminogen activator Gene Set

From GAD Gene-Disease Associations

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

plasminogen Gene Set

From GeneRIF Biological Term Annotations

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

positive regulation of plasminogen activation Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of plasminogen activation biological process from the curated GO Biological Process Annotations dataset.

regulation of plasminogen activation Gene Set

From GO Biological Process Annotations

genes participating in the regulation of plasminogen activation biological process from the curated GO Biological Process Annotations dataset.

plasminogen activation Gene Set

From GO Biological Process Annotations

genes participating in the plasminogen activation biological process from the curated GO Biological Process Annotations dataset.

negative regulation of plasminogen activation Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of plasminogen activation biological process from the curated GO Biological Process Annotations dataset.

urokinase plasminogen activator signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the urokinase plasminogen activator signaling pathway biological process from the curated GO Biological Process Annotations dataset.

urokinase plasminogen activator receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the urokinase plasminogen activator receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

Plasma plasminogen activator levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Plasma plasminogen activator levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Plasminogen-related Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Plasminogen-related protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tissue plasminogen activator Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tissue plasminogen activator protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Plasminogen activating cascade Gene Set

From PANTHER Pathways

proteins participating in the Plasminogen activating cascade pathway from the PANTHER Pathways 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.

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.

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.

coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; vitamin d deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; vitamin d deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

albuminuria; chronic renal failure; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; glycosuria; kidney failure, chronic; proteinuria Gene Set

From GAD Gene-Disease Associations

genes associated with the disease albuminuria; chronic renal failure; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; glycosuria; kidney failure, chronic; proteinuria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; disease susceptibility; polyendocrinopathies, autoimmune Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; disease susceptibility; polyendocrinopathies, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy; genetic predisposition to disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy; genetic predisposition to disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension; rheumatoid arthritis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic angiopathies; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic angiopathies; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

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.

diabetes mellitus type ii; diabetes mellitus, type 1; diabetes mellitus, type 2; hypoglycemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 1; diabetes mellitus, type 2; hypoglycemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atherosclerosis; coronary artery disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; fam hyperbetalipoproteinaemia; hyperlipoproteinemia type ii; hypertriglyceridemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atherosclerosis; coronary artery disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; fam hyperbetalipoproteinaemia; hyperlipoproteinemia type ii; hypertriglyceridemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Neuraminidase deficiency with beta-galactosidase deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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.

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From Reactome Pathways

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

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

From Reactome Pathways

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

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

From Reactome Pathways

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

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.

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.

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.

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.

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.

Leukocyte Adhesion Deficiency, Type III Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte Adhesion Deficiency, Type III from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type II from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type IB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type IB from the curated CTD Gene-Disease Associations dataset.

free protein s (type iia) deficiency Gene Set

From GAD Gene-Disease Associations

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

leukocyte adhesion deficiency, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukocyte adhesion deficiency, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

growth hormone deficiency, isolated, type ii Gene Set

From OMIM Gene-Disease Associations

genes associated with the growth hormone deficiency, isolated, type ii phenotype from the curated OMIM Gene-Disease Associations dataset.

growth hormone deficiency, isolated, type ia Gene Set

From OMIM Gene-Disease Associations

genes associated with the growth hormone deficiency, isolated, type ia phenotype from the curated OMIM Gene-Disease Associations dataset.

growth hormone deficiency, isolated, type ib Gene Set

From OMIM Gene-Disease Associations

genes associated with the growth hormone deficiency, isolated, type ib phenotype from the curated OMIM Gene-Disease Associations dataset.

?mitochondrial complex iii deficiency, nuclear type 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mitochondrial complex iii deficiency, nuclear type 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

?mitochondrial complex iii deficiency, nuclear type 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mitochondrial complex iii deficiency, nuclear type 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

?mitochondrial complex iii deficiency, nuclear type 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mitochondrial complex iii deficiency, nuclear type 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

?mitochondrial complex iii deficiency, nuclear type 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mitochondrial complex iii deficiency, nuclear type 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial complex iii deficiency, nuclear type 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial complex iii deficiency, nuclear type 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial complex iii deficiency, nuclear type 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial complex iii deficiency, nuclear type 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial complex iii deficiency, nuclear type 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial complex iii deficiency, nuclear type 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial complex iii deficiency, nuclear type 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial complex iii deficiency, nuclear type 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial complex iii deficiency, nuclear type 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial complex iii deficiency, nuclear type 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic kidney insufficiency; diabetes mellitus type ii; diabetes mellitus, type 2; renal insufficiency, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic kidney insufficiency; diabetes mellitus type ii; diabetes mellitus, type 2; renal insufficiency, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease 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 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.

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.

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.

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.

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.

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.

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.

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.

Methylcobalamin Deficiency, CblG Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylcobalamin Deficiency, CblG Type from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II from the curated CTD Gene-Disease Associations dataset.

Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency from the curated CTD Gene-Disease Associations dataset.

Leukocyte adhesion deficiency type 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte adhesion deficiency type 1 from the curated CTD Gene-Disease Associations dataset.

Lactate dehydrogenase deficiency type A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lactate dehydrogenase deficiency type A from the curated CTD Gene-Disease Associations dataset.

end-plate acetylcholinesterase deficiency (type ic) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease end-plate acetylcholinesterase deficiency (type ic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

?mitochondrial complex (atp synthase) deficiency, nuclear type 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mitochondrial complex (atp synthase) deficiency, nuclear type 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

3-beta-hydroxysteroid dehydrogenase, type ii, deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the 3-beta-hydroxysteroid dehydrogenase, type ii, deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

c8 deficiency, type ii Gene Set

From OMIM Gene-Disease Associations

genes associated with the c8 deficiency, type ii phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial complex v (atp synthase) deficiency, nuclear type 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial complex v (atp synthase) deficiency, nuclear type 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial complex v (atp synthase) deficiency, nuclear type 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial complex v (atp synthase) deficiency, nuclear type 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

hdl deficiency, type 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hdl deficiency, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cpt deficiency, hepatic, type ii Gene Set

From OMIM Gene-Disease Associations

genes associated with the cpt deficiency, hepatic, type ii phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

?mitochondrial complex v (atp synthase) deficiency, nuclear type 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mitochondrial complex v (atp synthase) deficiency, nuclear type 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

cpt deficiency, hepatic, type ia Gene Set

From OMIM Gene-Disease Associations

genes associated with the cpt deficiency, hepatic, type ia phenotype from the curated OMIM Gene-Disease Associations dataset.

c8 deficiency, type i Gene Set

From OMIM Gene-Disease Associations

genes associated with the c8 deficiency, type i phenotype from the curated OMIM Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; metabolic syndrome x; obesity; overweight Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; metabolic syndrome x; obesity; overweight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral infarction; diabetes mellitus type ii; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral infarction; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; hypertension; insulin resistance; metabolic syndrome x; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hypertension; insulin resistance; metabolic syndrome x; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; hyperinsulinism; insulin resistance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hyperinsulinism; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; familial type 3 hyperlipoproteinaemia; hyperinsulinism; hyperlipoproteinemia type iii; peripheral vascular diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; familial type 3 hyperlipoproteinaemia; hyperinsulinism; hyperlipoproteinemia type iii; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; hypertrophy; insulin resistance; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hypertrophy; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; kidney failure, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; hemochromatosis; insulin resistance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hemochromatosis; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; diabetic neuropathies; insulin resistance; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic neuropathies; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

albuminuria; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease albuminuria; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; metabolic syndrome x Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; metabolic syndrome x in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

familial type 3 hyperlipoproteinaemia; hyperlipoproteinemia type iii Gene Set

From GAD Gene-Disease Associations

genes associated with the disease familial type 3 hyperlipoproteinaemia; hyperlipoproteinemia type iii in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; chronic renal failure; diabetes complications; diabetes mellitus type ii; diabetes mellitus, type 2; kidney failure, chronic; myocardial infarction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; chronic renal failure; diabetes complications; diabetes mellitus type ii; diabetes mellitus, type 2; kidney failure, chronic; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

colorectal neoplasms; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colorectal neoplasms; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atherosclerosis; diabetes complications; diabetes mellitus type ii; diabetes mellitus, type 2; myocardial infarction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atherosclerosis; diabetes complications; diabetes mellitus type ii; diabetes mellitus, type 2; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; metabolic syndrome x; myocardial ischemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; metabolic syndrome x; myocardial ischemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body weight; diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; obesity; weight loss Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body weight; diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; obesity; weight loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; hypertension; insulin resistance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; hypertension; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; overweight Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; overweight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus, type 1; diabetes mellitus, type 2; insulin resistance; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus, type 1; diabetes mellitus, type 2; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, type 2; inflammation; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, type 2; inflammation; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; diabetic retinopathy; myocardial infarction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic retinopathy; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, type 2; inflammation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, type 2; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; lipid metabolism, inborn errors Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; lipid metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; hyperglycemia; insulin resistance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hyperglycemia; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; inflammation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; diabetes, gestational; gestational diabetes mellitus ; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetes, gestational; gestational diabetes mellitus ; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; intermittent claudication Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; intermittent claudication in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body weight; diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; metabolic syndrome x Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body weight; diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; metabolic syndrome x in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; myocardial infarction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

P-type ATPase, subfamily IIA, PMR1-type Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the P-type ATPase, subfamily IIA, PMR1-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

P-type ATPase, subfamily IIA, SERCA-type Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the P-type ATPase, subfamily IIA, SERCA-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Iron-Refractory Iron Deficiency Anemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Iron-Refractory Iron Deficiency Anemia from the curated CTD Gene-Disease Associations dataset.

ahg deficiency disease; chromosome inversion; hemophilia a; hemorrhage; inversion, chromosome Gene Set

From GAD Gene-Disease Associations

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

iron-refractory iron deficiency anemia Gene Set

From OMIM Gene-Disease Associations

genes associated with the iron-refractory iron deficiency anemia phenotype from the curated OMIM Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; hyperinsulinism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hyperinsulinism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; wolfram syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; wolfram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; hypertriglyceridemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hypertriglyceridemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; metabolic syndrome x Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; metabolic syndrome x in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; hypertension; kidney failure, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; hypertension; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; hypertrophy, left ventricular; left ventricular hypertrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hypertrophy, left ventricular; left ventricular hypertrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; glucose metabolism disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; glucose metabolism disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; edema Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; edema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus, type 2; hyperlipoproteinemia type i; hypertriglyceridemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus, type 2; hyperlipoproteinemia type i; hypertriglyceridemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; kidney failure, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; diabetic retinopathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic retinopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; diabetes mellitus type ii; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes, type 2; diabetes, type 1 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes, type 2; diabetes, type 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; body weight; diabetes mellitus type ii; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; body weight; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; metabolic syndrome x; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; metabolic syndrome x; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic neuropathies; kidney failure, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic neuropathies; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus; diabetes mellitus type ii; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; hyperlipidemias; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hyperlipidemias; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; weight gain Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; weight gain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; hypertension; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hypertension; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

deafness; diabetes mellitus, type 1; diabetes mellitus, type 2; mitochondrial diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease deafness; diabetes mellitus, type 1; diabetes mellitus, type 2; mitochondrial diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; diabetic neuropathies; disease susceptibility Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; diabetic neuropathies; disease susceptibility in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; hearing disorders; hearing problem Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hearing disorders; hearing problem in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes, type 2 ; diabetes, type 1 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes, type 2 ; diabetes, type 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary artery disease; diabetes mellitus type ii; diabetes mellitus, type 2; dyslipidemias Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary artery disease; diabetes mellitus type ii; diabetes mellitus, type 2; dyslipidemias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

calcinosis; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies Gene Set

From GAD Gene-Disease Associations

genes associated with the disease calcinosis; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; endometrial neoplasms; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; endometrial neoplasms; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute-phase reaction; diabetes mellitus type ii; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute-phase reaction; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; diabetes mellitus type ii; diabetes mellitus, type 2; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; diabetes mellitus type ii; diabetes mellitus, type 2; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; diabetes, gestational; gestational diabetes mellitus Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetes, gestational; gestational diabetes mellitus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

albuminuria; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease albuminuria; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arthritis, rheumatoid; atrial fibrillation; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, type 2; multiple sclerosis; rheumatoid arthritis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis, rheumatoid; atrial fibrillation; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, type 2; multiple sclerosis; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenoma; adrenal gland neoplasms; adrenal neoplasm; diabetes mellitus type ii; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenoma; adrenal gland neoplasms; adrenal neoplasm; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; glomerulonephritis; kidney failure, chronic; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

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

diabetes mellitus type ii; diabetes mellitus, type 2; memory disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; memory disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arteriosclerosis; diabetes mellitus type ii; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arteriosclerosis; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; diabetes mellitus type ii; diabetes mellitus, type 2; thinness Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; diabetes mellitus type ii; diabetes mellitus, type 2; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus, type 1; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus, type 1; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholism; diabetes mellitus type ii; diabetes mellitus, type 2; pancreatic neoplasm; pancreatic neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; diabetes mellitus type ii; diabetes mellitus, type 2; pancreatic neoplasm; pancreatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; peripheral vascular diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; pancreatic neoplasm; pancreatic neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; pancreatic neoplasm; pancreatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, type 2; metabolic syndrome x Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, type 2; metabolic syndrome x in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; kidney failure; kidney; failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; kidney failure; kidney; failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes, type 2; hypertension; diabetes, type 1 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes, type 2; hypertension; diabetes, type 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary stenosis; diabetes mellitus type ii; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary stenosis; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; hypercholesterolemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hypercholesterolemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

angina pectoris; coronary artery disease; coronary restenosis; diabetes mellitus type ii; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease angina pectoris; coronary artery disease; coronary restenosis; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; kidney failure, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; pancreatitis, alcoholic; pancreatitis, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; pancreatitis, alcoholic; pancreatitis, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carotid artery diseases; diabetes mellitus type ii; diabetes mellitus, type 2; disease models, animal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carotid artery diseases; diabetes mellitus type ii; diabetes mellitus, type 2; disease models, animal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, type 2; psoriasis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, type 2; psoriasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; dementia; diabetes mellitus type ii; diabetes mellitus, type 2; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; dementia; diabetes mellitus type ii; diabetes mellitus, type 2; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; obesity; overweight Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; obesity; overweight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cataract; diabetes mellitus type ii; diabetes mellitus, type 2; myopia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cataract; diabetes mellitus type ii; diabetes mellitus, type 2; myopia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; hyperlipidemias Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hyperlipidemias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes complications; diabetes mellitus type ii; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes complications; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; dyslipidemias Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; dyslipidemias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; diabetes, gestational; gestational diabetes mellitus (disorder) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetes, gestational; gestational diabetes mellitus (disorder) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes, type 2; hypertension; diabetes, type 1; albuminuria Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes, type 2; hypertension; diabetes, type 1; albuminuria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; hypercholesterolemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; hypercholesterolemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

albuminuria; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease albuminuria; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blindness; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blindness; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; diabetic neuropathies Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic neuropathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary artery disease; diabetes mellitus type ii; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary artery disease; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; diseases in twins Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diseases in twins in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; death, sudden; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; death, sudden; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; diabetic retinopathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; diabetic retinopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; diabetic nephropathies; diabetic nephropathy; diabetic neuropathies Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; diabetic nephropathies; diabetic nephropathy; diabetic neuropathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic angiopathies Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic angiopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

type 1 and type 2 muscle fiber minicore regions Gene Set

From HPO Gene-Disease Associations

genes associated with the type 1 and type 2 muscle fiber minicore regions phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

type 1 fibers relatively smaller than type 2 fibers Gene Set

From HPO Gene-Disease Associations

genes associated with the type 1 fibers relatively smaller than type 2 fibers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Protein-tyrosine phosphatase, receptor type R/non-receptor type 5 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein-tyrosine phosphatase, receptor type R/non-receptor type 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ephrin receptor type-A /type-B Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ephrin receptor type-A /type-B protein domain from the InterPro Predicted Protein Domain Annotations dataset.

K/Cl co-transporter, type 1/type 3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the K/Cl co-transporter, type 1/type 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

ocular albinism, type i, nettleship-falls type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ocular albinism, type i, nettleship-falls type phenotype from the curated OMIM Gene-Disease 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

IRAK4 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the IRAK4 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.

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.

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.

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.

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.

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.

Anemia, Iron-Deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Intrinsic Factor Deficiency Gene Set

From CTD Gene-Disease Associations

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

IgA Deficiency Gene Set

From CTD Gene-Disease Associations

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

Interleukin 2 Receptor, Alpha, Deficiency of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Interleukin 2 Receptor, Alpha, Deficiency of from the curated CTD Gene-Disease Associations dataset.

Ribose 5-Phosphate Isomerase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ribose 5-Phosphate Isomerase Deficiency from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Complex III Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Complex III Deficiency from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

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

Antithrombin III Deficiency Gene Set

From CTD Gene-Disease Associations

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

Isobutyryl-CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isobutyryl-CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

ACTH Deficiency, Isolated Gene Set

From CTD Gene-Disease Associations

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

Insulin-Like Growth Factor I Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Insulin-Like Growth Factor I Deficiency from the curated CTD Gene-Disease Associations dataset.

Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

Sucrase-isomaltase deficiency, congenital Gene Set

From CTD Gene-Disease Associations

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

Carnitine Palmitoyltransferase II Deficiency, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Infantile from the curated CTD Gene-Disease Associations dataset.

AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

IRAK4 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease IRAK4 Deficiency from the curated CTD Gene-Disease Associations dataset.

Ectodermal dysplasia, hypohidrotic, with immune deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal dysplasia, hypohidrotic, with immune deficiency from the curated CTD Gene-Disease Associations dataset.

Immunoglobulin a deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunoglobulin a deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Immunoglobulin a deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunoglobulin a deficiency 1 from the curated CTD Gene-Disease Associations dataset.

Follicle-stimulating hormone deficiency, isolated Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Follicle-stimulating hormone deficiency, isolated from the curated CTD Gene-Disease Associations dataset.

Immunologic Deficiency Syndromes Gene Set

From CTD Gene-Disease Associations

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

antithrombin iii deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

iron deficiency anemia Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

urethral intrinsic sphincter deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital intrinsic factor deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

antithrombin iii deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

iron deficiency anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

immunoglobulin alpha deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

intestinal disaccharidase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

selective igg deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

interleukin-7 receptor alpha deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease interleukin-7 receptor alpha deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

c1 inhibitor deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease c1 inhibitor deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

selective iga deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

selective immunoglobulin deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

iga deficiency Gene Set

From GAD Gene-Disease Associations

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

alpha 1-antitrypsin deficiency; fibrosis; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; fibrosis; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; fetal growth retardation; intrauterine growth retardation; vitamin d deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; fetal growth retardation; intrauterine growth retardation; vitamin d deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

common variable immunodeficiency; igg deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease common variable immunodeficiency; igg deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron deficiency Gene Set

From GAD Gene-Disease Associations

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

isolated gh deficiency (ighd) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease isolated gh deficiency (ighd) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

celiac disease; iga deficiency Gene Set

From GAD Gene-Disease Associations

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

anemia, iron deficiency; anemia of chronic disease Gene Set

From GAD Gene-Disease Associations

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

congenital intrinsic factor deficiency. Gene Set

From GAD Gene-Disease Associations

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

antithrombin iii deficiency; cerebral infarction; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antithrombin iii deficiency; cerebral infarction; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchiectasis; immunologic deficiency syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchiectasis; immunologic deficiency syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune diseases; iga deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune diseases; iga deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ahg deficiency disease; hemophilia a; hiv infections; [x]human immunodeficiency virus disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ahg deficiency disease; hemophilia a; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; kidney failure, chronic Gene Set

From GAD Gene-Disease Associations

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

anemia, iron-deficiency; hemochromatosis; inflammation Gene Set

From GAD Gene-Disease Associations

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

alpha 1-antitrypsin indicate a single origin for deficiency allele pi z Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin indicate a single origin for deficiency allele pi z in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antithrombin iii deficiency; coronary thrombosis; myocardial infarction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antithrombin iii deficiency; coronary thrombosis; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis Gene Set

From GAD Gene-Disease Associations

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

alpha 1-antitrypsin deficiency; cystic fibrosis; mycobacterium infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; cystic fibrosis; mycobacterium infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

methionine adenosyltransferase i/iii deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease methionine adenosyltransferase i/iii deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosomal instability; immunologic deficiency syndromes; lymphoma, non-hodgkin; microsatellite instability Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosomal instability; immunologic deficiency syndromes; lymphoma, non-hodgkin; microsatellite instability in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; malaria Gene Set

From GAD Gene-Disease Associations

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

alpha 1-antitrypsin deficiency; occupational diseases; smoke inhalation injury Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; occupational diseases; smoke inhalation injury in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

immune deficiency Gene Set

From GAD Gene-Disease Associations

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

iga deficiency and common variable immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease iga deficiency and common variable immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ahg deficiency disease; hemophilia a; hepatitis c; hiv infections; [x]human immunodeficiency virus disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ahg deficiency disease; hemophilia a; hepatitis c; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

iron deficiency, inherited Gene Set

From GAD Gene-Disease Associations

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

ahg deficiency disease; hemophilia a; hiv infections; sexually transmitted diseases, viral; [x]human immunodeficiency virus disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ahg deficiency disease; hemophilia a; hiv infections; sexually transmitted diseases, viral; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; polycythemia vera Gene Set

From GAD Gene-Disease Associations

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

celiac disease; common variable immunodeficiency; iga deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease celiac disease; common variable immunodeficiency; iga deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

immunologic deficiency syndromes; severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease immunologic deficiency syndromes; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency Gene Set

From GAD Gene-Disease Associations

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

common variable immunodeficiency; hemochromatosis; igg deficiency; infection Gene Set

From GAD Gene-Disease Associations

genes associated with the disease common variable immunodeficiency; hemochromatosis; igg deficiency; infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

inosine triphosphate deficiency Gene Set

From GAD Gene-Disease Associations

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

anemia, iron-deficiency; avitaminosis Gene Set

From GAD Gene-Disease Associations

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

Simian Acquired Immune Deficiency Syndrome_T lymphocyte_GSE4785 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Simian Acquired Immune Deficiency Syndrome_T lymphocyte_GSE4785 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Iron deficiency Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Iron deficiency phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

iron deficiency anemia Gene Set

From GWASdb SNP-Disease Associations

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

immunoglobulin alpha deficiency Gene Set

From GWASdb SNP-Disease Associations

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

selective ige deficiency disease Gene Set

From GWASdb SNP-Disease Associations

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

selective igg deficiency disease Gene Set

From GWASdb SNP-Disease Associations

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

selective iga deficiency disease Gene Set

From GWASdb SNP-Disease Associations

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

selective immunoglobulin deficiency disease Gene Set

From GWASdb SNP-Disease Associations

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

iga deficiency Gene Set

From GWASdb SNP-Phenotype Associations

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

iga deficiency Gene Set

From HPO Gene-Disease Associations

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

iron deficiency anemia Gene Set

From HPO Gene-Disease Associations

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

igm deficiency Gene Set

From HPO Gene-Disease Associations

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

ige deficiency Gene Set

From HPO Gene-Disease Associations

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

immunoglobulin igg2 deficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the immunoglobulin igg2 deficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

igg deficiency Gene Set

From HPO Gene-Disease Associations

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

Anemia, Iron-Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Anemia, Iron-Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Antithrombin III Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Antithrombin III Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

IgA Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

IgG Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Immunologic Deficiency Syndromes Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Immunologic Deficiency Syndromes phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

{chronic infections, due to mbl deficiency} Gene Set

From OMIM Gene-Disease Associations

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

intrinsic factor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the intrinsic factor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to il2 deficiency Gene Set

From OMIM Gene-Disease Associations

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

ataxia with isolated vitamin e deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ataxia with isolated vitamin e deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

agammaglobulinemia and isolated hormone deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the agammaglobulinemia and isolated hormone deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set

From OMIM Gene-Disease Associations

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

interleukin 1 receptor antagonist deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the interleukin 1 receptor antagonist deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked, with isolated growth hormone deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked, with isolated growth hormone deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

[igg receptor i, phagocytic, familial deficiency of] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [igg receptor i, phagocytic, familial deficiency of] phenotype from the curated OMIM Gene-Disease Associations dataset.

ribose 5-phosphate isomerase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ribose 5-phosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

immunoglobulin a deficiency 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunoglobulin a deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, congenital, due to itga7 deficiency Gene Set

From OMIM Gene-Disease Associations

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

immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

interleukin-2 receptor, alpha chain, deficiency of Gene Set

From OMIM Gene-Disease Associations

genes associated with the interleukin-2 receptor, alpha chain, deficiency of phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to ada deficiency Gene Set

From OMIM Gene-Disease Associations

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

[inosine triphosphatase deficiency] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [inosine triphosphatase deficiency] phenotype from the curated OMIM Gene-Disease Associations dataset.

isobutyryl-coa dehydrogenase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the isobutyryl-coa dehydrogenase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

17,20-lyase deficiency, isolated Gene Set

From OMIM Gene-Disease Associations

genes associated with the 17,20-lyase deficiency, isolated phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

immunoglobulin a deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunoglobulin a deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

follicle-stimulating hormone deficiency, isolated Gene Set

From OMIM Gene-Disease Associations

genes associated with the follicle-stimulating hormone deficiency, isolated phenotype from the curated OMIM Gene-Disease Associations dataset.

interferon, alpha, deficiency Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

autoinflammation, antibody deficiency, and immune dysregulation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoinflammation, antibody deficiency, and immune dysregulation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

thrombophilia due to antithrombin iii deficiency Gene Set

From OMIM Gene-Disease Associations

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

apoa-i and apoc-iii deficiency, combined Gene Set

From OMIM Gene-Disease Associations

genes associated with the apoa-i and apoc-iii deficiency, combined phenotype from the curated OMIM Gene-Disease Associations dataset.

alpha-2-plasmin inhibitor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the alpha-2-plasmin inhibitor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia, hypohidrotic, with immune deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia, hypohidrotic, with immune deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

apolipoprotein c-iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the apolipoprotein c-iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

irak4 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the irak4 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

immunodeficiency due to ficolin 3 deficiency Gene Set

From OMIM Gene-Disease Associations

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

igg2 deficiency, selective Gene Set

From OMIM Gene-Disease Associations

genes associated with the igg2 deficiency, selective phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to triosephosphate isomerase deficiency Gene Set

From OMIM Gene-Disease Associations

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

sucrase-isomaltase deficiency, congenital Gene Set

From OMIM Gene-Disease Associations

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

?male infertility due to acrosin deficiency Gene Set

From OMIM Gene-Disease Associations

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

Defective GIF causes intrinsic factor deficiency Gene Set

From Reactome Pathways

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

diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetic nephropathies; diabetic nephropathy; insulin resistance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetic nephropathies; diabetic nephropathy; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; inflammatory bowel disease, nos; inflammatory bowel diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cholesterol; diabetes, type 2; insulin; glucose; insulin resistance; pc-1 protein content; systolic blood pressure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cholesterol; diabetes, type 2; insulin; glucose; insulin resistance; pc-1 protein content; systolic blood pressure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Trifunctional protein deficiency with myopathy and neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bifunctional peroxisomal enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bifunctional peroxisomal enzyme 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.

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.

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.

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.

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

From ClinVar Gene-Phenotype Associations

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

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.

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.

Platelet glycoprotein IV deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet glycoprotein IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

N-acetylaspartate deficiency Gene 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Pyruvate dehydrogenase E3-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E3-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor IX deficiency disease Gene 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-fetoprotein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alpha-fetoprotein 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.

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.

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.

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.

Apolipoprotein a-i deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Apolipoprotein a-i deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glut1 deficiency syndrome 1, autosomal recessive Gene 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.

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.

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.

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.

Sphingolipid activator protein 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of ferroxidase Gene 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.

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.

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.

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.

Mitochondrial trifunctional protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

GTP cyclohydrolase I deficiency Gene 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.

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.

Mannose-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mannose-binding protein deficiency 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.

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.

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

From ClinVar Gene-Phenotype Associations

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

Protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of glycerol kinase Gene 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/proteins 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/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal from the curated CTD Gene-Disease Associations dataset.

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

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

Platelet Glycoprotein IV Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Platelet Glycoprotein IV Deficiency from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Phosphate Carrier Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Phosphate Carrier Deficiency from the curated CTD Gene-Disease Associations dataset.

Prekallikrein Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins 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/proteins 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/proteins 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/proteins 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/proteins associated with the disease Carnitine palmitoyl transferase 1A deficiency from the curated CTD Gene-Disease Associations dataset.

Preaxial deficiency, postaxial polydactyly and hypospadias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset.

THYROTROPIN-RELEASING HORMONE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THYROTROPIN-RELEASING HORMONE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Carbamoyl-Phosphate Synthase I Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Tyrosine Kinase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tyrosine Kinase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Properdin deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Properdin deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

COENZYME Q10 DEFICIENCY, PRIMARY, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COENZYME Q10 DEFICIENCY, PRIMARY, 1 from the curated CTD Gene-Disease Associations dataset.

Glutathione synthetase deficiency Gene Set

From CTD Gene-Disease Associations

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

Glucocorticoid Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucocorticoid Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Aniridia cerebellar ataxia mental deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aniridia cerebellar ataxia mental deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylat