Name

leigh syndrome and cytochrome c oxidase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leigh syndrome and cytochrome c oxidase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leigh syndrome due to cytochrome c oxidase deficiency Gene Set

From OMIM Gene-Disease Associations

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

cytochrome-c oxidase deficiency; leigh disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cytochrome-c oxidase deficiency; leigh disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

electron transporter, transferring electrons from coqh2-cytochrome c reductase complex and cytochrome c oxidase complex activity Gene Set

From GO Molecular Function Annotations

genes performing the electron transporter, transferring electrons from coqh2-cytochrome c reductase complex and cytochrome c oxidase complex activity molecular function from the curated GO Molecular Function Annotations dataset.

hypertrophic cardiomyopathy and cytochrome c oxidase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertrophic cardiomyopathy and cytochrome c oxidase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease 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.

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.

Cytochrome-c Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

cytochrome-c oxidase deficiency disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease cytochrome-c oxidase deficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Cytochrome-c Oxidase Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Cytochrome-c Oxidase Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype 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.

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.

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.

leigh syndrome due to mitochondrial complex i deficiency Gene Set

From OMIM Gene-Disease Associations

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

leigh syndrome, due to cox deficiency Gene Set

From OMIM Gene-Disease Associations

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

leigh syndrome due to mitochondrial cox4 deficiency Gene Set

From OMIM Gene-Disease Associations

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

leigh syndrome due to mitochondrial complex 1 deficiency Gene Set

From OMIM Gene-Disease Associations

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

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome phenotype from the curated OMIM 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.

Cytochrome c oxidase (EC 1.9.3.1), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Cytochrome c oxidase (EC 1.9.3.1), mitochondrial protein complex from the CORUM Protein Complexes dataset.

deficient cytochrome c oxidase assembly Gene Set

From GAD Gene-Disease Associations

genes associated with the disease deficient cytochrome c oxidase assembly in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cytochrome-c oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the cytochrome-c oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

decreased activity of cytochrome c oxidase in muscle tissue Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased activity of cytochrome c oxidase in muscle tissue phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Cytochrome C oxidase subunit II, transmembrane domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome C oxidase subunit II, transmembrane domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase copper chaperone Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase copper chaperone protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit 6C Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit 6C protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase assembly protein CtaG/Cox11, domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase assembly protein CtaG/Cox11, domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit III domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit III domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome C oxidase, subunit VIIB, domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome C oxidase, subunit VIIB, domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit IV Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit IV protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit I Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit I protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit I domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit I domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit VIIc Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit VIIc protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit VIa Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit VIa protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit III, 4-helical bundle Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit III, 4-helical bundle protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit Va/VI Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit Va/VI protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit VIa, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit VIa, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit II C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit II C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit VIIa Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit VIIa protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit VIII/photosystem I reaction centre subunit IX Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit VIII/photosystem I reaction centre subunit IX protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase assembly protein PET191 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase assembly protein PET191 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit II Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit II protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase assembly protein CtaG/Cox11 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase assembly protein CtaG/Cox11 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome C oxidase, subunit VIIB Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome C oxidase, subunit VIIB protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase biogenesis protein Cmc1-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase biogenesis protein Cmc1-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit 8 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit 8 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit Vb, zinc binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit Vb, zinc binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit Vb Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit Vb protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Synthesis of cytochrome c oxidase, Sco1/Sco2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Synthesis of cytochrome c oxidase, Sco1/Sco2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase assembly protein COX14 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase assembly protein COX14 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase assembly protein COX16 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase assembly protein COX16 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit VIIa-related, mitochondrial Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit VIIa-related, mitochondrial protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit VIb Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit VIb protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit I, copper-binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit I, copper-binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit IV family Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit IV family protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome oxidase assembly protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome oxidase assembly protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Leigh syndrome, French Canadian type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome, French Canadian type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome , French Canadian type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leigh syndrome , French Canadian type from the curated CTD Gene-Disease Associations dataset.

leigh syndrome, french-canadian type Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome, french-canadian type phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Leigh Disease Gene Set

From CTD Gene-Disease Associations

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

leigh disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

leigh disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

leigh Gene Set

From GeneRIF Biological Term Annotations

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

Leigh Disease Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

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.

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.

NADH cytochrome B5 reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NADH cytochrome B5 reductase deficiency from the curated CTD Gene-Disease Associations dataset.

deficiency or absence of cytochrome b(-245) Gene Set

From HPO Gene-Disease Associations

genes associated with the deficiency or absence of cytochrome b(-245) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease 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.

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.

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.

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.

Peroxisomal ACYL-COA oxidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Peroxisomal ACYL-COA oxidase deficiency from the curated CTD Gene-Disease Associations dataset.

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Sulfite oxidase deficiency Gene Set

From CTD Gene-Disease Associations

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

sulfite oxidase deficiency Gene Set

From HPO Gene-Disease Associations

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

aldehyde oxidase deficiency Gene Set

From HPO Gene-Disease Associations

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

pyridoxamine 5'-phosphate oxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyridoxamine 5'-phosphate oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

sulfite oxidase deficiency Gene Set

From OMIM Gene-Disease Associations

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

peroxisomal acyl-coa oxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the peroxisomal acyl-coa oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

[urate oxidase deficiency] Gene Set

From OMIM Gene-Disease Associations

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

genetic polymorphism of cytochrome p450 2a6 and the body status of iron stores Gene Set

From GAD Gene-Disease Associations

genes associated with the disease genetic polymorphism of cytochrome p450 2a6 and the body status of iron stores in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

oxidoreductase activity, acting on diphenols and related substances as donors, cytochrome as acceptor Gene Set

From GO Molecular Function Annotations

genes performing the oxidoreductase activity, acting on diphenols and related substances as donors, cytochrome as acceptor molecular function from the curated GO Molecular Function Annotations dataset.

digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Acyl-CoA dehydrogenase/oxidase, N-terminal and middle domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Acyl-CoA dehydrogenase/oxidase, N-terminal and middle domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

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

From OMIM Gene-Disease Associations

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

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.

Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds Gene Set

From Reactome Pathways

proteins participating in the Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways dataset.

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries 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.

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

From CTD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

choline deficiency; dna damage; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

anemia, iron-deficiency; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From Reactome Pathways

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

Defective 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.

Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

cytochrome complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cytochrome complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cytochrome b6f complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cytochrome b6f complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

cytochrome complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cytochrome complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

Cytochrome bc1-complex (EC 1.10.2.2), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Cytochrome bc1-complex (EC 1.10.2.2), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I from the curated CTD Gene-Disease Associations dataset.

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative from the curated CTD Gene-Disease Associations dataset.

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II from the curated CTD Gene-Disease Associations dataset.

cytochrome p450 oxidoreductase Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cytochrome p450 oxidoreductase in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

high inducibility of cytochrome p450 1a1 gene transcription Gene Set

From GAD Gene-Disease Associations

genes associated with the disease high inducibility of cytochrome p450 1a1 gene transcription in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cytochrome Gene Set

From GeneRIF Biological Term Annotations

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

negative regulation of release of cytochrome c from mitochondria Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of release of cytochrome c from mitochondria biological process from the curated GO Biological Process Annotations dataset.

mitochondrial electron transport, ubiquinol to cytochrome c Gene Set

From GO Biological Process Annotations

genes participating in the mitochondrial electron transport, ubiquinol to cytochrome c biological process from the curated GO Biological Process Annotations dataset.

release of cytochrome c from mitochondria Gene Set

From GO Biological Process Annotations

genes participating in the release of cytochrome c from mitochondria biological process from the curated GO Biological Process Annotations dataset.

positive regulation of release of cytochrome c from mitochondria Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of release of cytochrome c from mitochondria biological process from the curated GO Biological Process Annotations dataset.

cytochrome complex assembly Gene Set

From GO Biological Process Annotations

genes participating in the cytochrome complex assembly biological process from the curated GO Biological Process Annotations dataset.

activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c Gene Set

From GO Biological Process Annotations

genes participating in the activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c biological process from the curated GO Biological Process Annotations dataset.

regulation of release of cytochrome c from mitochondria Gene Set

From GO Biological Process Annotations

genes participating in the regulation of release of cytochrome c from mitochondria biological process from the curated GO Biological Process Annotations dataset.

mitochondrial electron transport, cytochrome c to oxygen Gene Set

From GO Biological Process Annotations

genes participating in the mitochondrial electron transport, cytochrome c to oxygen biological process from the curated GO Biological Process Annotations dataset.

cytochrome complex Gene Set

From GO Cellular Component Annotations

proteins localized to the cytochrome complex cellular component from the curated GO Cellular Component Annotations dataset.

oxidoreductase activity, acting on the ch-oh group of donors, cytochrome as acceptor Gene Set

From GO Molecular Function Annotations

genes performing the oxidoreductase activity, acting on the ch-oh group of donors, cytochrome as acceptor molecular function from the curated GO Molecular Function Annotations dataset.

iron-cytochrome-c reductase activity Gene Set

From GO Molecular Function Annotations

genes performing the iron-cytochrome-c reductase activity molecular function from the curated GO Molecular Function Annotations dataset.

cytochrome-b5 reductase activity, acting on nad(p)h Gene Set

From GO Molecular Function Annotations

genes performing the cytochrome-b5 reductase activity, acting on nad(p)h molecular function from the curated GO Molecular Function Annotations dataset.

ubiquinol-cytochrome-c reductase activity Gene Set

From GO Molecular Function Annotations

genes performing the ubiquinol-cytochrome-c reductase activity molecular function from the curated GO Molecular Function Annotations dataset.

d-lactate dehydrogenase (cytochrome) activity Gene Set

From GO Molecular Function Annotations

genes performing the d-lactate dehydrogenase (cytochrome) activity molecular function from the curated GO Molecular Function Annotations dataset.

Cytochrome b/b6, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome b/b6, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Flavoprotein pyridine nucleotide cytochrome reductase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Flavoprotein pyridine nucleotide cytochrome reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c/c1 haem-lyase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c/c1 haem-lyase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c-like domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome P450, CYP2 family Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome P450, CYP2 family protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome b561/ferric reductase transmembrane Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome b561/ferric reductase transmembrane protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome P450, E-class, group I, CYP1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome P450, E-class, group I, CYP1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome P450, E-class, group I, CYP2D-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome P450, E-class, group I, CYP2D-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NADPH-cytochrome P450 reductase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NADPH-cytochrome P450 reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome P450, cholesterol 7-alpha-monooxygenase-type Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome P450, cholesterol 7-alpha-monooxygenase-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Di-haem cytochrome, transmembrane Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Di-haem cytochrome, transmembrane protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome P450, E-class, group I, CYP2J-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome P450, E-class, group I, CYP2J-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Succinate dehydrogenase, cytochrome b556 subunit Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Succinate dehydrogenase, cytochrome b556 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome P450 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome P450 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome b-c1 complex subunit 10 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome b-c1 complex subunit 10 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome b reductase 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome b reductase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome P450, E-class, group II Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome P450, E-class, group II protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome P450, E-class, group IV Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome P450, E-class, group IV protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquinol cytochrome reductase, transmembrane domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquinol cytochrome reductase, transmembrane domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquinol-cytochrome C reductase hinge domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquinol-cytochrome C reductase hinge domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome b561 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome b561 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquinol-cytochrome c chaperone, CBP3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquinol-cytochrome c chaperone, CBP3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c, class IA/ IB Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c, class IA/ IB protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome b/b6, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome b/b6, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome b558 alpha-subunit Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome b558 alpha-subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome P450, E-class, group I, CYP2B-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome P450, E-class, group I, CYP2B-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c1, transmembrane anchor, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c1, transmembrane anchor, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome P450, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome P450, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome b/b6-like domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome b/b6-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquinol-cytochrome c reductase, iron-sulphur subunit Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquinol-cytochrome c reductase, iron-sulphur subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquinol-cytochrome c chaperone/UPF0174 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquinol-cytochrome c chaperone/UPF0174 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, CybS Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, CybS protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome P450, E-class, CYP3A Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome P450, E-class, CYP3A protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome P450, E-class, group I Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome P450, E-class, group I protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NADH:cytochrome b5 reductase (CBR) Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NADH:cytochrome b5 reductase (CBR) protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome P450, mitochondrial Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome P450, mitochondrial protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome b-c1 complex, subunit 6 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome b-c1 complex, subunit 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome b245, heavy chain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome b245, heavy chain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome cd1-nitrite reductase-like, haem d1 domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome cd1-nitrite reductase-like, haem d1 domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome b ascorbate-dependent protein 3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome b ascorbate-dependent protein 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome B561-related Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome B561-related protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome P450, E-class, group I, CYP2A-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome P450, E-class, group I, CYP2A-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome b5-like heme/steroid binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome b5-like heme/steroid binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Succinate dehydrogenase, cytochrome b subunit, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Succinate dehydrogenase, cytochrome b subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome b561 domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome b561 domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquinol-cytochrome c reductase 8kDa, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquinol-cytochrome c reductase 8kDa, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome b5, heme-binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome b5, heme-binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome P450, E-class, group I, CYP2E-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome P450, E-class, group I, CYP2E-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome b-c1 complex subunit 9 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome b-c1 complex subunit 9 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome b-c1 complex subunit 8 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome b-c1 complex subunit 8 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome b-c1 complex subunit 7 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome b-c1 complex subunit 7 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

metabolism of xenobiotics by cytochrome p450 Gene Set

From KEGG Pathways

proteins participating in the metabolism of xenobiotics by cytochrome p450 pathway from the KEGG Pathways dataset.

disordered steroidogenesis due to cytochrome p450 oxidoreductase Gene Set

From OMIM Gene-Disease Associations

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

granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

cytochrome Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term cytochrome in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

Cytochrome c-mediated apoptotic response Gene Set

From Reactome Pathways

proteins participating in the Cytochrome c-mediated apoptotic response pathway from the Reactome Pathways dataset.

Cytochrome P450 - arranged by substrate type Gene Set

From Reactome Pathways

proteins participating in the Cytochrome P450 - arranged by substrate type pathway from the Reactome Pathways dataset.

Oxidation by Cytochrome P450(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Oxidation by Cytochrome P450(Homo sapiens) pathway from the Wikipathways Pathways dataset.

Oxidation by Cytochrome P450(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the Oxidation by Cytochrome P450(Mus musculus) pathway from the Wikipathways Pathways dataset.

Lynch syndrome:Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

nadph oxidase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the nadph oxidase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

nadph oxidase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the nadph oxidase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

platelet monoamine oxidase b activity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease platelet monoamine oxidase b activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

vascular nad(p)h oxidase activity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease vascular nad(p)h oxidase activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

nadph oxidase Gene Set

From GAD Gene-Disease Associations

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

oxidase Gene Set

From GeneRIF Biological Term Annotations

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

regulation of nad(p)h oxidase activity Gene Set

From GO Biological Process Annotations

genes participating in the regulation of nad(p)h oxidase activity biological process from the curated GO Biological Process Annotations dataset.

fatty acid beta-oxidation using acyl-coa oxidase Gene Set

From GO Biological Process Annotations

genes participating in the fatty acid beta-oxidation using acyl-coa oxidase biological process from the curated GO Biological Process Annotations dataset.

regulation of d-amino-acid oxidase activity Gene Set

From GO Biological Process Annotations

genes participating in the regulation of d-amino-acid oxidase activity biological process from the curated GO Biological Process Annotations dataset.

negative regulation of nad(p)h oxidase activity Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of nad(p)h oxidase activity biological process from the curated GO Biological Process Annotations dataset.

negative regulation of d-amino-acid oxidase activity Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of d-amino-acid oxidase activity biological process from the curated GO Biological Process Annotations dataset.

positive regulation of nad(p)h oxidase activity Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of nad(p)h oxidase activity biological process from the curated GO Biological Process Annotations dataset.

nadph oxidase complex Gene Set

From GO Cellular Component Annotations

proteins localized to the nadph oxidase complex cellular component from the curated GO Cellular Component Annotations dataset.

15-oxoprostaglandin 13-oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the 15-oxoprostaglandin 13-oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

aldehyde oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the aldehyde oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

pyridoxamine-phosphate oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the pyridoxamine-phosphate oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

lathosterol oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the lathosterol oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

sarcosine oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the sarcosine oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

aliphatic-amine oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the aliphatic-amine oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

xanthine oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the xanthine oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

l-pipecolate oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the l-pipecolate oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

nad(p)h oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the nad(p)h oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

glyoxylate oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the glyoxylate oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

c-4 methylsterol oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the c-4 methylsterol oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

very-long-chain-(s)-2-hydroxy-acid oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the very-long-chain-(s)-2-hydroxy-acid oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

superoxide-generating nadph oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the superoxide-generating nadph oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

glycolate oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the glycolate oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

(s)-2-hydroxy-acid oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the (s)-2-hydroxy-acid oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

l-amino-acid oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the l-amino-acid oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

aspartate oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the aspartate oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

long-chain-alcohol oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the long-chain-alcohol oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

prenylcysteine oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the prenylcysteine oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

primary amine oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the primary amine oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

caffeine oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the caffeine oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

coproporphyrinogen oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the coproporphyrinogen oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

d-aspartate oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the d-aspartate oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

heme-copper terminal oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the heme-copper terminal oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

oxygen-dependent protoporphyrinogen oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the oxygen-dependent protoporphyrinogen oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

d-amino-acid oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the d-amino-acid oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

long-chain-(s)-2-hydroxy-long-chain-acid oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the long-chain-(s)-2-hydroxy-long-chain-acid oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

palmitoyl-coa oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the palmitoyl-coa oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

protoporphyrinogen oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the protoporphyrinogen oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

sulfite oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the sulfite oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

protein-lysine 6-oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the protein-lysine 6-oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

acyl-coa oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the acyl-coa oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

superoxide-generating nadph oxidase activator activity Gene Set

From GO Molecular Function Annotations

genes performing the superoxide-generating nadph oxidase activator activity molecular function from the curated GO Molecular Function Annotations dataset.

histamine oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the histamine oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

methylputrescine oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the methylputrescine oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

medium-chain-(s)-2-hydroxy-acid oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the medium-chain-(s)-2-hydroxy-acid oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

pristanoyl-coa oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the pristanoyl-coa oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

diamine oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the diamine oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

flavin-linked sulfhydryl oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the flavin-linked sulfhydryl oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

polyamine oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the polyamine oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

propane-1,3-diamine oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the propane-1,3-diamine oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

thiol oxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the thiol oxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

decreased activity of nadph oxidase Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased activity of nadph oxidase phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Pyridoxine 5'-phosphate oxidase, dimerisation, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyridoxine 5'-phosphate oxidase, dimerisation, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Copper amine oxidase, N2/N3-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Copper amine oxidase, N2/N3-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protoporphyrinogen oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

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

Pyridoxamine 5'-phosphate oxidase-like, FMN-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyridoxamine 5'-phosphate oxidase-like, FMN-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead protein domain from the InterPro Predicted Protein Domain Annotations dataset.

FAD linked oxidase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the FAD linked oxidase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aldehyde oxidase/xanthine dehydrogenase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aldehyde oxidase/xanthine dehydrogenase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NADPH oxidase subunit p47Phox, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NADPH oxidase subunit p47Phox, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Pyridoxamine 5'-phosphate oxidase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyridoxamine 5'-phosphate oxidase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Dual oxidase maturation factor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dual oxidase maturation factor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

ERV/ALR sulfhydryl oxidase domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the ERV/ALR sulfhydryl oxidase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Coproporphyrinogen III oxidase, oxygen-independent related Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Coproporphyrinogen III oxidase, oxygen-independent related protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Flavin amine oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Flavin amine oxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lysyl oxidase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lysyl oxidase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Acyl-CoA oxidase/dehydrogenase, central domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Acyl-CoA oxidase/dehydrogenase, central domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aldehyde oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

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

Pyridoxamine 5'-phosphate oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyridoxamine 5'-phosphate oxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Coproporphyrinogen III oxidase, aerobic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Coproporphyrinogen III oxidase, aerobic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Copper amine oxidase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Copper amine oxidase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Galactose oxidase, beta-propeller Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Galactose oxidase, beta-propeller protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Vanillyl-alcohol oxidase, C-terminal subdomain 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vanillyl-alcohol oxidase, C-terminal subdomain 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Amine oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

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

FAD-linked oxidase-like, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the FAD-linked oxidase-like, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

D-amino-acid oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the D-amino-acid oxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Acyl-CoA oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Acyl-CoA oxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Copper amine oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Copper amine oxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Proline oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

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

Dual oxidase 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dual oxidase 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Acyl-CoA dehydrogenase/oxidase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Acyl-CoA dehydrogenase/oxidase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Acyl-coenzyme A oxidase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Acyl-coenzyme A oxidase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Acyl-CoA dehydrogenase/oxidase C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Acyl-CoA dehydrogenase/oxidase C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Copper amine oxidase, N2-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Copper amine oxidase, N2-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Acyl-CoA oxidase, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Acyl-CoA oxidase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Prenyltransferase/squalene oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Prenyltransferase/squalene oxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protoporphyrinogen oxidase, C-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protoporphyrinogen oxidase, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

D-amino acid oxidase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the D-amino acid oxidase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Coproporphyrinogen III oxidase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Coproporphyrinogen III oxidase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Copper amine oxidase, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Copper amine oxidase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lysyl oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

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

Copper amine oxidase, N3-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Copper amine oxidase, N3-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Multicopper oxidase, copper-binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Multicopper oxidase, copper-binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Dihydroxyindole-2-carboxylic acid oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dihydroxyindole-2-carboxylic acid oxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

FAD-linked oxidase, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the FAD-linked oxidase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Galactose oxidase/kelch, beta-propeller Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Galactose oxidase/kelch, beta-propeller protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Prenylcysteine oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

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

Zinc-finger domain of monoamine-oxidase A repressor R1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Zinc-finger domain of monoamine-oxidase A repressor R1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NADPH oxidase 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NADPH oxidase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NADPH oxidase 3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NADPH oxidase 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NADPH oxidase 5 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NADPH oxidase 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Multicopper oxidase, type 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Multicopper oxidase, type 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Multicopper oxidase, type 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Multicopper oxidase, type 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Multicopper oxidase, type 3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Multicopper oxidase, type 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Sarcosine oxidase, monomeric Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sarcosine oxidase, monomeric protein domain from the InterPro Predicted Protein Domain Annotations dataset.

D-amino acid oxidase activator Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the D-amino acid oxidase activator protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Dual oxidase 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dual oxidase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

oxidase Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term oxidase in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

Amine Oxidase reactions Gene Set

From Reactome Pathways

proteins participating in the Amine Oxidase reactions pathway from the Reactome Pathways dataset.

Enzymatic degradation of Dopamine by monoamine oxidase Gene Set

From Reactome Pathways

proteins participating in the Enzymatic degradation of Dopamine by monoamine oxidase pathway from the Reactome Pathways 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset.

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset.

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 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.

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

From CTD Gene-Disease Associations

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

Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

acid lipase deficiency and cholesterol ester storage disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acid lipase deficiency and cholesterol ester storage disease 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.

l-ferritin deficiency, dominant and recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the l-ferritin deficiency, dominant and recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ulna and fibula, absence of, with severe limb deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ulna and fibula, absence of, with severe limb deficiency 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.

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

From OMIM Gene-Disease Associations

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

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.

factor v and factor viii, combined deficiency of Gene Set

From OMIM Gene-Disease Associations

genes associated with the factor v and factor viii, combined deficiency of 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.

?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 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.

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.

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.

combined factor v and viii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined factor v and viii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

phosphorylase kinase deficiency of liver and muscle, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the phosphorylase kinase deficiency of liver and muscle, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From Reactome Pathways

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

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.

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.

Glucose transporter type 1 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ehlers-Danlos syndrome caused by tenascin-X deficiency from the curated CTD Gene-Disease Associations dataset.

Growth mental deficiency syndrome of Myhre Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Growth mental deficiency syndrome of Myhre from the curated CTD Gene-Disease Associations dataset.

GLUT1 DEFICIENCY SYNDROME 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GLUT1 DEFICIENCY SYNDROME 2 from the curated CTD Gene-Disease Associations dataset.

Leukocyte-Adhesion Deficiency Syndrome Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

cerebral creatine deficiency syndrome Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease cerebral creatine deficiency syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

leukocyte-adhesion deficiency syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral creatine deficiency syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

rh deficiency syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

alpha 1-antitrypsin deficiency; aortic stenosis, supravalvular; dislocations; scoliosis; williams syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; aortic stenosis, supravalvular; dislocations; scoliosis; williams syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

magnesium deficiency; wasting syndrome Gene Set

From GAD Gene-Disease Associations

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

glucosephosphate dehydrogenase deficiency; hemoglobinuria; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glucosephosphate dehydrogenase deficiency; hemoglobinuria; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral creatine deficiency syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral creatine deficiency syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

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.

glut1 deficiency syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the glut1 deficiency syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

glut1 deficiency syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the glut1 deficiency syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

cerebral creatine deficiency syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral creatine deficiency syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebral creatine deficiency syndrome 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral creatine deficiency syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression Gene Set

From Biocarta Pathways

proteins participating in the basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression pathway from the Biocarta Pathways dataset.

BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coloboma, uveal, with cleft lip and palate and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diabetes mellitus AND insipidus with optic atrophy AND deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diabetes mellitus AND insipidus with optic atrophy AND deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH from the curated CTD Gene-Disease Associations dataset.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation from the curated CTD Gene-Disease Associations dataset.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset.

Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux from the curated CTD Gene-Disease Associations dataset.

Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations from the curated CTD Gene-Disease Associations dataset.

postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anxiety and hostility and depression Gene Set

From GAD Gene-Disease Associations

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

charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

frontotemporal dementia and pick-like 3r and 4r tauopathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease frontotemporal dementia and pick-like 3r and 4r tauopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

squamous cell carcinomas of the head and neck (scchn) and breast cancer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease squamous cell carcinomas of the head and neck (scchn) and breast cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

vitamins and metabolites in pregnant women and neonates Gene Set

From GAD Gene-Disease Associations

genes associated with the disease vitamins and metabolites in pregnant women and neonates in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

racemase and epimerase activity, acting on amino acids and derivatives Gene Set

From GO Molecular Function Annotations

genes performing the racemase and epimerase activity, acting on amino acids and derivatives molecular function from the curated GO Molecular Function Annotations dataset.

racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set

From GO Molecular Function Annotations

genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations dataset.

leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation phenotype from the curated OMIM Gene-Disease Associations dataset.

microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Gene Set

From OMIM Gene-Disease Associations

genes associated with the microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset.

hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, progressive, seizures, and cerebral and cerebellar atrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Set

From Reactome Pathways

proteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways dataset.

Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Set

From Reactome Pathways

proteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways dataset.

PI and PC transport between ER and Golgi membranes Gene Set

From Reactome Pathways

proteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways dataset.

Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Set

From Reactome Pathways

proteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways dataset.

FGFR1c and Klotho ligand binding and activation Gene Set

From Reactome Pathways

proteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways dataset.

Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set

From Reactome Pathways

proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways dataset.

Synthesis and processing of ENV and VPU Gene Set

From Reactome Pathways

proteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways dataset.

Synthesis and interconversion of nucleotide di- and triphosphates Gene Set

From Reactome Pathways

proteins participating in the Synthesis and interconversion of nucleotide di- and triphosphates pathway from the Reactome Pathways dataset.

SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) pathway from the Wikipathways Pathways dataset.

SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) pathway from the Wikipathways Pathways dataset.

SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) pathway from the Wikipathways Pathways dataset.

visceral fat deposits and the metabolic syndrome Gene Set

From Biocarta Pathways

proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset.

Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Foveal hypoplasia and presenile cataract syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Craniofacial anomalies and anterior segment dysgenesis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rigidity and multifocal seizure syndrome, lethal neonatal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Knuckle pads, deafness AND leukonychia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jervell and Lange-Nielsen syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, epilepsy, and diabetes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, epilepsy, and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Microcephaly, hiatal hernia and nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, hiatal hernia and nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jervell and Lange-Nielsen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutis Gyrata syndrome of Beare and Stevenson Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutis Gyrata syndrome of Beare and Stevenson phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alacrima, achalasia, and mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutaneous telangiectasia and cancer syndrome, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pineal hyperplasia AND diabetes mellitus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pineal hyperplasia AND diabetes mellitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Camptodactyly, tall stature, and hearing loss syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Camptodactyly, tall stature, and hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy, iris coloboma, and comedogenic acne syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome from the curated CTD Gene-Disease Associations dataset.

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease from the curated CTD Gene-Disease Associations dataset.

Keratitis, Ichthyosis, and Deafness (KID) Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Keratitis, Ichthyosis, and Deafness (KID) Syndrome from the curated CTD Gene-Disease Associations dataset.

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 from the curated CTD Gene-Disease Associations dataset.

Cutis Gyrata Syndrome of Beare And Stevenson Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cutis Gyrata Syndrome of Beare And Stevenson from the curated CTD Gene-Disease Associations dataset.

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 from the curated CTD Gene-Disease Associations dataset.

Hereditary Breast and Ovarian Cancer Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Breast and Ovarian Cancer Syndrome from the curated CTD Gene-Disease Associations dataset.

ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS from the curated CTD Gene-Disease Associations dataset.

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 from the curated CTD Gene-Disease Associations dataset.

Sarcoma family syndrome of Li and Fraumeni Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sarcoma family syndrome of Li and Fraumeni from the curated CTD Gene-Disease Associations dataset.

Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome from the curated CTD Gene-Disease Associations dataset.

Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis from the curated CTD Gene-Disease Associations dataset.

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 from the curated CTD Gene-Disease Associations dataset.

Jervell And Lange-Nielsen Syndrome 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Jervell And Lange-Nielsen Syndrome 2 from the curated CTD Gene-Disease Associations dataset.

Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Gene Set

From CTD Gene-Disease Associations

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

Renal cysts and diabetes syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal cysts and diabetes syndrome from the curated CTD Gene-Disease Associations dataset.

blepharophimosis, ptosis, and epicanthus inversus syndrome Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease blepharophimosis, ptosis, and epicanthus inversus syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

tooth and nail syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

blepharophimosis, ptosis, and epicanthus inversus syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease blepharophimosis, ptosis, and epicanthus inversus syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

hyper-ige syndrome and severe eczema. atopy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyper-ige syndrome and severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

psoriasis, psoriatic arthritis, and sapho syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease psoriasis, psoriatic arthritis, and sapho syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

jervell and lange-nielsen syndrome Gene Set

From GAD Gene-Disease Associations

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

hyper-igm syndrome can form oligomers and trigger cd40-mediated signals Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyper-igm syndrome can form oligomers and trigger cd40-mediated signals in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

complete androgen insensitivity syndrome and sertoli cell adenoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease complete androgen insensitivity syndrome and sertoli cell adenoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

metabolic syndrome and electrocardiographic coronary artery disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease metabolic syndrome and electrocardiographic coronary artery disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

critical illness; respiratory distress syndrome, adult; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease critical illness; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

systemic inflammatory response syndrome; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease systemic inflammatory response syndrome; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

elevated liver enzymes and metabolic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease elevated liver enzymes and metabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

tic; combined vocal and multiple motor; tourette syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease tic; combined vocal and multiple motor; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

li-fraumeni and related syndrome Gene Set

From GAD Gene-Disease Associations

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

Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

jervell and lange-nielsen syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the jervell and lange-nielsen syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

lymphedema-distichiasis syndrome with renal disease and diabetes mellitus Gene Set

From OMIM Gene-Disease Associations

genes associated with the lymphedema-distichiasis syndrome with renal disease and diabetes mellitus phenotype from the curated OMIM Gene-Disease Associations dataset.

melanoma and neural system tumor syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the melanoma and neural system tumor syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

craniofacial anomalies and anterior segment dysgenesis syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

renal cysts and diabetes syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal cysts and diabetes syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

alacrima, achalasia, and mental retardation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the alacrima, achalasia, and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

rigidity and multifocal seizure syndrome, lethal neonatal Gene Set

From OMIM Gene-Disease Associations

genes associated with the rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated OMIM Gene-Disease Associations dataset.

myelodysplasia and leukemia syndrome with monosomy 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myelodysplasia and leukemia syndrome with monosomy 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

aicardi-goutieres syndrome 1, dominant and recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the aicardi-goutieres syndrome 1, dominant and recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

antley-bixler syndrome with genital anomalies and disordered steroidogenesis Gene Set

From OMIM Gene-Disease Associations

genes associated with the antley-bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

?retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

retinol dystrophy, iris coloboma, and comedogenic acne syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinol dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

genes associated with the interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated OMIM Gene-Disease Associations dataset.

ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, epilepsy, and diabetes syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, epilepsy, and diabetes syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

jervell and lange-nielsen syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the jervell and lange-nielsen syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From OMIM Gene-Disease Associations

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

cutaneous telangiectasia and cancer syndrome, familial Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial recessive ataxia syndrome (includes sando and scae) Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial recessive ataxia syndrome (includes sando and scae) phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

autoinflammation, lipodystrophy, and dermatosis syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoinflammation, lipodystrophy, and dermatosis syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis phenotype from the curated OMIM Gene-Disease Associations dataset.

?partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Lynch syndrome:Turcot syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marfan's syndrome:Marfan's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marfan's syndrome:Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

IFAP syndrome with or without BRESHECK syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome I:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome I:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) from the curated CTD Gene-Disease Associations dataset.

Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

cornelia de lange syndrome; de lange syndrome Gene Set

From GAD Gene-Disease Associations

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

fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

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

abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene Set

From GAD Gene-Disease Associations

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

bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness Gene Set

From GAD Gene-Disease Associations

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

restless legs syndrome; tourette syndrome Gene Set

From GAD Gene-Disease Associations

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

endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

behcet syndrome; uveomeningoencephalitic syndrome Gene Set

From GAD Gene-Disease Associations

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

hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

melas syndrome; merrf syndrome Gene Set

From GAD Gene-Disease Associations

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

haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

angelman syndrome; rett syndrome; seizures Gene Set

From GAD Gene-Disease Associations

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

arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

digeorge syndrome; memory disorders; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

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

adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene Set

From GAD Gene-Disease Associations

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

insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

metabolic syndrome ; metabolic syndrome Gene Set

From GAD Gene-Disease Associations

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

obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

digeorge syndrome; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

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

fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene Set

From GAD Gene-Disease Associations

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

carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

down syndrome; ehlers-danlos syndrome Gene Set

From GAD Gene-Disease Associations

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

arthritis; felty's syndrome; large granular lymphocyte syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis; felty's syndrome; large granular lymphocyte syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

insulin resistance; metabolic syndrome x; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene Set

From GAD Gene-Disease Associations

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

heart-hand syndrome, holt-oram syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart-hand syndrome, holt-oram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura Gene Set

From GAD Gene-Disease Associations

genes associated with the disease haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

digeorge syndrome/velocardiofacial syndrome complex-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the digeorge syndrome/velocardiofacial syndrome complex-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ifap syndrome with or without bresheck syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease 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.

X-linked ichthyosis with steryl-sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Phosphoglycerate dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Galactosylceramide beta-galactosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Isolated 17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Endplate acetylcholinesterase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Sepiapterin reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Methionine adenosyltransferase deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase E2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set

From ClinVar Gene-Phenotype Associations

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

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of ribose-5-phosphate isomerase Gene Set

From ClinVar Gene-Phenotype Associations

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

Kininogen deficiency, total Gene Set

From ClinVar Gene-Phenotype Associations

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

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 9 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

N-terminal acetyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement component 7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Creatine deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

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

Birbeck granule deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glucocorticoid deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Glucocorticoid deficiency 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

SCID due to ADA deficiency, delayed onset Gene Set

From ClinVar Gene-Phenotype Associations

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

Properdin deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

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

PROPERDIN DEFICIENCY, TYPE II Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement factor d deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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.

Complement component 8 deficiency type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Testosterone 17-beta-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Deficiency of 2-methylbutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of isobutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Cerebral folate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Phosphoserine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Carnitine acylcarnitine translocase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Succinyl-CoA acetoacetate transferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Carnitine palmitoyltransferase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Platelet-activating factor acetylhydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Gene Set

From ClinVar Gene-Phenotype Associations

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

Lipase deficiency combined Gene Set

From ClinVar Gene-Phenotype Associations

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

5-Oxoprolinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glucocorticoid deficiency with achalasia Gene Set

From ClinVar Gene-Phenotype Associations

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

Proopiomelanocortin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined Gene Set

From ClinVar Gene-Phenotype Associations

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

Intrinsic factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

21-hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Corticosterone methyloxidase type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Thiopurine methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene Set

From ClinVar Gene-Phenotype Associations

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

Carnitine palmitoyltransferase II deficiency, infantile Gene Set

From ClinVar Gene-Phenotype Associations

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

Lactate dehydrogenase b deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 18 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 17 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 16 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 14 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 13 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 12 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 11 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 10 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of 3-hydroxyacyl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

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

Plasminogen deficiency, type I Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Molybdenum cofactor deficiency, complementation group C Gene Set

From ClinVar Gene-Phenotype Associations

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

Molybdenum cofactor deficiency, complementation group B Gene Set

From ClinVar Gene-Phenotype Associations

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

Molybdenum cofactor deficiency, complementation group A Gene Set

From ClinVar Gene-Phenotype Associations

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

Biotinidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal dominant isolated somatotropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypohidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of phosphoserine phosphatase Gene Set

From ClinVar Gene-Phenotype Associations

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

Isolated growth hormone deficiency type 1B Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of butyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

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

Anhidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

3 Methylcrotonyl-CoA carboxylase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of hyaluronoglucosaminidase Gene Set

From ClinVar Gene-Phenotype Associations

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

Plasminogen activator inhibitor type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 22 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 20 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 21 Gene Set

From ClinVar Gene-Phenotype Associations

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

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.

Glutamate formiminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypoglycemia with deficiency of glycogen synthetase in the liver Gene Set

From ClinVar Gene-Phenotype Associations

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

LEUKOCYTE ADHESION DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

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

Follicle-stimulating hormone deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

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

Ganglioside sialidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

C1q deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Interferon gamma receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Platelet 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.

Triosephosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Aromatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary factor II deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Factor xiii, a subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex III deficiency, nuclear type 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex III deficiency, nuclear type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Multiple sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Corticosteroid-binding globulin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 15 Gene Set

From ClinVar Gene-Phenotype Associations

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

Corticosterone methyloxidase type 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement component 9 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Holocarboxylase synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

2,4-Dienoyl-CoA reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of glycerate kinase Gene Set

From ClinVar Gene-Phenotype Associations

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

Ataxia with vitamin E deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of galactokinase Gene Set

From ClinVar Gene-Phenotype Associations

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

ACTH deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

PROPERDIN DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

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

Carboxylesterase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Purine-nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Neonatal intrahepatic cholestasis caused by citrin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement component 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Antithrombin III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Inosine triphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Growth hormone deficiency with pituitary anomalies Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Homocysteinemia due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of pyrroline-5-carboxylate reductase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of pyrroline-5-carboxylate reductase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Sarcosine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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.

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.

Deficiency of iodide peroxidase Gene Set

From ClinVar Gene-Phenotype Associations

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

Glycosylphosphatidylinositol deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Leukocyte adhesion deficiency type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital lactase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Caspase-8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Phosphoglycerate kinase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Anaphylotoxin inactivator deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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