Name

vitamin b12 deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease vitamin b12 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

vitamin b12 deficiency Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease vitamin b12 deficiency in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

vitamin b12 deficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the vitamin b12 deficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1 from the curated CTD Gene-Disease Associations dataset.

homocysteine, folate and vitamin b12 levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease homocysteine, folate and vitamin b12 levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

vitamin b12 levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease vitamin b12 levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hiv; folate; vitamin b12 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hiv; folate; vitamin b12 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

homocysteine; vitamin b12; holotranscobalamin; methylmalonic acid Gene Set

From GAD Gene-Disease Associations

genes associated with the disease homocysteine; vitamin b12; holotranscobalamin; methylmalonic acid in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma folate vitamin b12 homocyst(e)ine and colorectal cancer risk Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma folate vitamin b12 homocyst(e)ine and colorectal cancer risk in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

homocysteine; vitamin b12; transcobalamin Gene Set

From GAD Gene-Disease Associations

genes associated with the disease homocysteine; vitamin b12; transcobalamin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma level of vitamin b12 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma level of vitamin b12 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Vitamin B12 levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Vitamin B12 levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

abnormality of the vitamin b12 metabolism Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of the vitamin b12 metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

malabsorption of vitamin b12 Gene Set

From HPO Gene-Disease Associations

genes associated with the malabsorption of vitamin b12 phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the vitamin b12 metabolism Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the vitamin b12 metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Vitamin B12-dependent methionine synthase, activation domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vitamin B12-dependent methionine synthase, activation domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cobalamin (vitamin B12)-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cobalamin (vitamin B12)-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cobalamin (vitamin B12)-dependent enzyme, catalytic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cobalamin (vitamin B12)-dependent enzyme, catalytic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cobalamin (vitamin B12)-binding transporter, eukaryotic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cobalamin (vitamin B12)-binding transporter, eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cobalamin (vitamin B12)-binding module, cap domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cobalamin (vitamin B12)-binding module, cap domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

abnormal vitamin b12 level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal vitamin b12 level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

{vitamin b12 plasma level qtl1} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {vitamin b12 plasma level qtl1} phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria, vitamin b12-responsive Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria, vitamin b12-responsive phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

Cobalamin (Cbl, vitamin B12) transport and metabolism Gene Set

From Reactome Pathways

proteins participating in the Cobalamin (Cbl, vitamin B12) transport and metabolism pathway from the Reactome Pathways dataset.

Vitamin B12 Metabolism(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Vitamin B12 Metabolism(Homo sapiens) pathway from the Wikipathways Pathways 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.

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.

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.

abnormal vitamin or vitamin cofactor metabolism Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal vitamin or vitamin cofactor metabolism phenotype in transgenic mice from the MPO 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.

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

b12 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term b12 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Defects in cobalamin (B12) metabolism Gene Set

From Reactome Pathways

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

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.

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.

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.

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.

Vitamin B 12 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin B 12 Deficiency from the curated CTD Gene-Disease Associations dataset.

Vitamin A Deficiency Gene Set

From CTD Gene-Disease Associations

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

Vitamin D Deficiency Gene Set

From CTD Gene-Disease Associations

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

Ataxia with vitamin E deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ataxia with vitamin E deficiency from the curated CTD Gene-Disease Associations dataset.

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 from the curated CTD Gene-Disease Associations dataset.

VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.

Vitamin E Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin E Deficiency 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.

vitamin k deficiency hemorrhagic disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

thromboembolism; venous thrombosis; vitamin b deficiency Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes, gestational; vitamin d deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes, gestational; vitamin d deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperhomocysteinemia; phenylketonurias; vitamin b deficiency Gene Set

From GAD Gene-Disease Associations

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

anemia; gastritis, atrophic; nervous system diseases; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia; gastritis, atrophic; nervous system diseases; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

kidney diseases; vitamin a deficiency Gene Set

From GAD Gene-Disease Associations

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

bone resorption; vitamin k deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bone resorption; vitamin k deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; vitamin d deficiency Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

alzheimer disease; alzheimer's disease; cardiovascular diseases; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; alzheimer's disease; cardiovascular diseases; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperhomocysteinemia; vascular diseases; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperhomocysteinemia; vascular diseases; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

homocystinuria; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease homocystinuria; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

vitamin d deficiency Gene Set

From GAD Gene-Disease Associations

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

vitamin e deficiency Gene Set

From GWASdb SNP-Phenotype Associations

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

vitamin b6 deficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the vitamin b6 deficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

vitamin k deficiency Gene Set

From HPO Gene-Disease Associations

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

vitamin d deficiency Gene Set

From HPO Gene-Disease Associations

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

vitamin e deficiency Gene Set

From HPO Gene-Disease Associations

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

Vitamin K Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Vitamin B 12 Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Vitamin B 12 Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Vitamin A Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Vitamin D Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Vitamin B Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

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

From OMIM Gene-Disease Associations

genes associated with the vitamin k-dependent clotting factors, combined deficiency of, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

genes associated with the vitamin k-dependent clotting factors, combined deficiency of, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ataxia with isolated vitamin e deficiency Gene Set

From OMIM Gene-Disease Associations

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

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.

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.

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.

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.

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.

control of gene expression by vitamin d receptor Gene Set

From Biocarta Pathways

proteins participating in the control of gene expression by vitamin d receptor pathway from the Biocarta Pathways dataset.

Vitamin d hydroxylation-deficient rickets, type 1b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin d hydroxylation-deficient rickets, type 1b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive hypophosphatemic vitamin D refractory rickets Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive hypophosphatemic vitamin D refractory rickets phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Familial X-linked hypophosphatemic vitamin D refractory rickets Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Familial X-linked hypophosphatemic vitamin D refractory rickets phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitamin D-dependent rickets, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin D-dependent rickets, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitamin D-dependent rickets, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin D-dependent rickets, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

vitamin K1 oxide Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical vitamin K1 oxide from the curated CTD Gene-Chemical Interactions dataset.

Vitamin K 3 Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Vitamin K 3 from the curated CTD Gene-Chemical Interactions dataset.

Vitamin K 1 Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Vitamin K 1 from the curated CTD Gene-Chemical Interactions dataset.

dihydroxy-vitamin D3 Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical dihydroxy-vitamin D3 from the curated CTD Gene-Chemical Interactions dataset.

Vitamin U Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Vitamin U from the curated CTD Gene-Chemical Interactions dataset.

Vitamin A Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Vitamin A from the curated CTD Gene-Chemical Interactions dataset.

Vitamin E Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Vitamin E from the curated CTD Gene-Chemical Interactions dataset.

Vitamin D Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Vitamin D from the curated CTD Gene-Chemical Interactions dataset.

Vitamin K Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Vitamin K from the curated CTD Gene-Chemical Interactions dataset.

1,25-dihydroxy-16-ene-vitamin D3 Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical 1,25-dihydroxy-16-ene-vitamin D3 from the curated CTD Gene-Chemical Interactions dataset.

Vitamin K 2 Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Vitamin K 2 from the curated CTD Gene-Chemical Interactions dataset.

Vitamin B 6 Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Vitamin B 6 from the curated CTD Gene-Chemical Interactions dataset.

Vitamin B 12 Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Vitamin B 12 from the curated CTD Gene-Chemical Interactions dataset.

Vitamin D Hydroxylation-Deficient Rickets, Type 1A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin D Hydroxylation-Deficient Rickets, Type 1A from the curated CTD Gene-Disease Associations dataset.

Vitamin D-Dependent Rickets, Type 2A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin D-Dependent Rickets, Type 2A from the curated CTD Gene-Disease Associations dataset.

Vitamin D Hydroxylation-Deficient Rickets, Type 1B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin D Hydroxylation-Deficient Rickets, Type 1B from the curated CTD Gene-Disease Associations dataset.

Vitamin B 12 Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Vitamin B 12 in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Vitamin A Gene Set

From dbGAP Gene-Trait Associations

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

Vitamin D Gene Set

From dbGAP Gene-Trait Associations

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

Vitamin K Gene Set

From dbGAP Gene-Trait Associations

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

Vitamin E Gene Set

From dbGAP Gene-Trait Associations

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

Vitamin B 6 Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Vitamin B 6 in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

vitamin metabolic disorder Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

Vitamin C Gene Set

From DrugBank Drug Targets

interacting proteins for the Vitamin C drug from the curated DrugBank Drug Targets dataset.

Vitamin E Gene Set

From DrugBank Drug Targets

interacting proteins for the Vitamin E drug from the curated DrugBank Drug Targets dataset.

Vitamin A Gene Set

From DrugBank Drug Targets

interacting proteins for the Vitamin A drug from the curated DrugBank Drug Targets dataset.

altered b vitamin/thiol metabolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease altered b vitamin/thiol metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

vitamin b 6 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease vitamin b 6 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

vitamin b 12 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease vitamin b 12 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bsmi vitamin d receptor gene polymorphism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bsmi vitamin d receptor gene polymorphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folate pathway vitamin levels Gene Set

From GAD Gene-Disease Associations

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

vitamin c excretion Gene Set

From GAD Gene-Disease Associations

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

vitamin a Gene Set

From GAD Gene-Disease Associations

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

vitamin e and carotenoids Gene Set

From GAD Gene-Disease Associations

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

vitamin e Gene Set

From GAD Gene-Disease Associations

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

vitamin d Gene Set

From GAD Gene-Disease Associations

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

vitamin k Gene Set

From GAD Gene-Disease Associations

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

vitamin Gene Set

From GeneRIF Biological Term Annotations

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

vitamin a_rattus norvegicus_gpl85_gds238 Gene Set

From GEO Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the vitamin a_rattus norvegicus_gpl85_gds238 small molecule perturbation from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.

vitamin c_mus musculus_gpl6246_gse19378 Gene Set

From GEO Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the vitamin c_mus musculus_gpl6246_gse19378 small molecule perturbation from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.

vitamin c_mus musculus_gpl6246_gse19377 Gene Set

From GEO Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the vitamin c_mus musculus_gpl6246_gse19377 small molecule perturbation from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.

vitamin c_homo sapiens_gpl6884_gse16590 Gene Set

From GEO Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the vitamin c_homo sapiens_gpl6884_gse16590 small molecule perturbation from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.

vitamin e_mus musculus_gpl1261_gse42813 Gene Set

From GEO Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the vitamin e_mus musculus_gpl1261_gse42813 small molecule perturbation from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.

vitamin c_homo sapiens_gpl570_gds3635 Gene Set

From GEO Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the vitamin c_homo sapiens_gpl570_gds3635 small molecule perturbation from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.

vitamin a_rattus norvegicus_gpl85_gse3420 Gene Set

From GEO Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the vitamin a_rattus norvegicus_gpl85_gse3420 small molecule perturbation from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.

vitamin c_homo sapiens_gpl570_gse11919 Gene Set

From GEO Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the vitamin c_homo sapiens_gpl570_gse11919 small molecule perturbation from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.

vitamin c_mus musculus_gpl6246_gse32994 Gene Set

From GEO Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the vitamin c_mus musculus_gpl6246_gse32994 small molecule perturbation from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.

vitamin c_mus musculus_gpl1261_gse37676 Gene Set

From GEO Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the vitamin c_mus musculus_gpl1261_gse37676 small molecule perturbation from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.

regulation of vitamin d receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the regulation of vitamin d receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

water-soluble vitamin biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the water-soluble vitamin biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

vitamin biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the vitamin biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

vitamin a import Gene Set

From GO Biological Process Annotations

genes participating in the vitamin a import biological process from the curated GO Biological Process Annotations dataset.

cellular response to vitamin Gene Set

From GO Biological Process Annotations

genes participating in the cellular response to vitamin biological process from the curated GO Biological Process Annotations dataset.

vitamin d3 metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the vitamin d3 metabolic process biological process from the curated GO Biological Process Annotations dataset.

regulation of vitamin d 24-hydroxylase activity Gene Set

From GO Biological Process Annotations

genes participating in the regulation of vitamin d 24-hydroxylase activity biological process from the curated GO Biological Process Annotations dataset.

vitamin b6 metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the vitamin b6 metabolic process biological process from the curated GO Biological Process Annotations dataset.

response to vitamin Gene Set

From GO Biological Process Annotations

genes participating in the response to vitamin biological process from the curated GO Biological Process Annotations dataset.

fat-soluble vitamin catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the fat-soluble vitamin catabolic process biological process from the curated GO Biological Process Annotations dataset.

fat-soluble vitamin biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the fat-soluble vitamin biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

vitamin d catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the vitamin d catabolic process biological process from the curated GO Biological Process Annotations dataset.

vitamin a transport Gene Set

From GO Biological Process Annotations

genes participating in the vitamin a transport biological process from the curated GO Biological Process Annotations dataset.

vitamin d biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the vitamin d biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

vitamin k biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the vitamin k biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

negative regulation of vitamin metabolic process Gene Set

From GO Biological Process Annotations

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

fat-soluble vitamin metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the fat-soluble vitamin metabolic process biological process from the curated GO Biological Process Annotations dataset.

response to vitamin b1 Gene Set

From GO Biological Process Annotations

genes participating in the response to vitamin b1 biological process from the curated GO Biological Process Annotations dataset.

response to vitamin b6 Gene Set

From GO Biological Process Annotations

genes participating in the response to vitamin b6 biological process from the curated GO Biological Process Annotations dataset.

vitamin e biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the vitamin e biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

response to vitamin b2 Gene Set

From GO Biological Process Annotations

genes participating in the response to vitamin b2 biological process from the curated GO Biological Process Annotations dataset.

response to vitamin b3 Gene Set

From GO Biological Process Annotations

genes participating in the response to vitamin b3 biological process from the curated GO Biological Process Annotations dataset.

negative regulation of vitamin d biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of vitamin d biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

regulation of vitamin a metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the regulation of vitamin a metabolic process biological process from the curated GO Biological Process Annotations dataset.

water-soluble vitamin metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the water-soluble vitamin metabolic process biological process from the curated GO Biological Process Annotations dataset.

regulation of vitamin metabolic process Gene Set

From GO Biological Process Annotations

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

vitamin transmembrane transport Gene Set

From GO Biological Process Annotations

genes participating in the vitamin transmembrane transport biological process from the curated GO Biological Process Annotations dataset.

vitamin k metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the vitamin k metabolic process biological process from the curated GO Biological Process Annotations dataset.

vitamin a biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the vitamin a biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

vitamin k catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the vitamin k catabolic process biological process from the curated GO Biological Process Annotations dataset.

positive regulation of vitamin metabolic process Gene Set

From GO Biological Process Annotations

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

vitamin d receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the vitamin d receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

positive regulation of vitamin d biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of vitamin d biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

positive regulation of vitamin d receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of vitamin d receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

vitamin b6 biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the vitamin b6 biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

negative regulation of vitamin d receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of vitamin d receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

vitamin metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the vitamin metabolic process biological process from the curated GO Biological Process Annotations dataset.

vitamin catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the vitamin catabolic process biological process from the curated GO Biological Process Annotations dataset.

vitamin a metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the vitamin a metabolic process biological process from the curated GO Biological Process Annotations dataset.

vitamin d metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the vitamin d metabolic process biological process from the curated GO Biological Process Annotations dataset.

cellular response to vitamin d Gene Set

From GO Biological Process Annotations

genes participating in the cellular response to vitamin d biological process from the curated GO Biological Process Annotations dataset.

cellular response to vitamin e Gene Set

From GO Biological Process Annotations

genes participating in the cellular response to vitamin e biological process from the curated GO Biological Process Annotations dataset.

cellular response to vitamin k Gene Set

From GO Biological Process Annotations

genes participating in the cellular response to vitamin k biological process from the curated GO Biological Process Annotations dataset.

vitamin transport Gene Set

From GO Biological Process Annotations

genes participating in the vitamin transport biological process from the curated GO Biological Process Annotations dataset.

regulation of vitamin d biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the regulation of vitamin d biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

response to vitamin a Gene Set

From GO Biological Process Annotations

genes participating in the response to vitamin a biological process from the curated GO Biological Process Annotations dataset.

cellular response to vitamin b1 Gene Set

From GO Biological Process Annotations

genes participating in the cellular response to vitamin b1 biological process from the curated GO Biological Process Annotations dataset.

positive regulation of vitamin d 24-hydroxylase activity Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of vitamin d 24-hydroxylase activity biological process from the curated GO Biological Process Annotations dataset.

vitamin e metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the vitamin e metabolic process biological process from the curated GO Biological Process Annotations dataset.

response to vitamin k Gene Set

From GO Biological Process Annotations

genes participating in the response to vitamin k biological process from the curated GO Biological Process Annotations dataset.

response to vitamin e Gene Set

From GO Biological Process Annotations

genes participating in the response to vitamin e biological process from the curated GO Biological Process Annotations dataset.

response to vitamin d Gene Set

From GO Biological Process Annotations

genes participating in the response to vitamin d biological process from the curated GO Biological Process Annotations dataset.

vitamin binding Gene Set

From GO Molecular Function Annotations

genes performing the vitamin binding molecular function from the curated GO Molecular Function Annotations dataset.

vitamin e binding Gene Set

From GO Molecular Function Annotations

genes performing the vitamin e binding molecular function from the curated GO Molecular Function Annotations dataset.

vitamin d receptor activator activity Gene Set

From GO Molecular Function Annotations

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

vitamin d receptor binding Gene Set

From GO Molecular Function Annotations

genes performing the vitamin d receptor binding molecular function from the curated GO Molecular Function Annotations dataset.

vitamin transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the vitamin transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

vitamin transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the vitamin transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

vitamin d 24-hydroxylase activity Gene Set

From GO Molecular Function Annotations

genes performing the vitamin d 24-hydroxylase activity molecular function from the curated GO Molecular Function Annotations dataset.

vitamin d3 25-hydroxylase activity Gene Set

From GO Molecular Function Annotations

genes performing the vitamin d3 25-hydroxylase activity molecular function from the curated GO Molecular Function Annotations dataset.

vitamin d response element binding Gene Set

From GO Molecular Function Annotations

genes performing the vitamin d response element binding molecular function from the curated GO Molecular Function Annotations dataset.

vitamin d binding Gene Set

From GO Molecular Function Annotations

genes performing the vitamin d binding molecular function from the curated GO Molecular Function Annotations dataset.

vitamin-k-epoxide reductase (warfarin-sensitive) activity Gene Set

From GO Molecular Function Annotations

genes performing the vitamin-k-epoxide reductase (warfarin-sensitive) activity molecular function from the curated GO Molecular Function Annotations dataset.

vitamin d 25-hydroxylase activity Gene Set

From GO Molecular Function Annotations

genes performing the vitamin d 25-hydroxylase activity molecular function from the curated GO Molecular Function Annotations dataset.

vitamin D3 Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the vitamin D3 ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

vitamin K2 Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the vitamin K2 ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

Response to Vitamin E supplementation Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Response to Vitamin E supplementation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Vitamin E levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Vitamin E levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Vitamin D insufficiency Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Vitamin D insufficiency phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Vitamin D levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Vitamin D levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Serum vitamin D-binding protein levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Serum vitamin D-binding protein levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Folate pathway vitamin levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Folate pathway vitamin levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

vitamin metabolic disorder Gene Set

From GWASdb SNP-Disease Associations

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

abnormality of vitamin metabolism Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of vitamin metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of vitamin d metabolism Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of vitamin d metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of vitamin a metabolism Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of vitamin a metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of vitamin b metabolism Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of vitamin b metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of vitamin e metabolism Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of vitamin e metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Vitamin K1 2,3-epoxide Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Vitamin K1 2,3-epoxide metabolite from the curated HMDB Metabolites of Enzymes dataset.

Vitamin K1 Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Vitamin K1 metabolite from the curated HMDB Metabolites of Enzymes dataset.

Vitamin K2 Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Vitamin K2 metabolite from the curated HMDB Metabolites of Enzymes dataset.

Reduced Vitamin K (phylloquinone) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Reduced Vitamin K (phylloquinone) metabolite from the curated HMDB Metabolites of Enzymes dataset.

Vitamin D2 3-glucuronide Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Vitamin D2 3-glucuronide metabolite from the curated HMDB Metabolites of Enzymes dataset.

Vitamin D3 Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Vitamin D3 metabolite from the curated HMDB Metabolites of Enzymes dataset.

Vitamin A Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Vitamin A metabolite from the curated HMDB Metabolites of Enzymes dataset.

abnormality of vitamin k metabolism Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of vitamin k metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of vitamin e metabolism Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of vitamin e metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of vitamin d metabolism Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of vitamin d metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of vitamin metabolism Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of vitamin metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of vitamin b metabolism Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of vitamin b metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Xanthine/uracil/vitamin C permease Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Xanthine/uracil/vitamin C permease protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Thiamin pyrophosphokinase, vitamin B1-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Thiamin pyrophosphokinase, vitamin B1-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Vitamin D receptor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vitamin D receptor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Vitamin K epoxide reductase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vitamin K epoxide reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Vitamin D binding protein, domain III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vitamin D binding protein, domain III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Vitamin D-binding protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vitamin D-binding protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Vitamin K-dependent gamma-carboxylase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vitamin K-dependent gamma-carboxylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Pyridoxal phosphate (active vitamin B6) biosynthesis, pyridoxal kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyridoxal phosphate (active vitamin B6) biosynthesis, pyridoxal kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

vitamin b6 metabolism Gene Set

From KEGG Pathways

proteins participating in the vitamin b6 metabolism pathway from the KEGG Pathways dataset.

abnormal vitamin absorption Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal vitamin absorption phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased vitamin d level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased vitamin d level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal vitamin d level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal vitamin d level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal vitamin metabolism Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal vitamin metabolism phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal vitamin level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal vitamin level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal vitamin a metabolism Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal vitamin a metabolism phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal vitamin c level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal vitamin c level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal fat-soluble vitamin level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal fat-soluble vitamin level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal vitamin a level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal vitamin a level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal vitamin e level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal vitamin e level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal vitamin homeostasis Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal vitamin homeostasis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

{vitamin b6 plasma level qtl 1} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {vitamin b6 plasma level qtl 1} phenotype from the curated OMIM Gene-Disease Associations dataset.

rickets, vitamin d-resistant, type iia Gene Set

From OMIM Gene-Disease Associations

genes associated with the rickets, vitamin d-resistant, type iia phenotype from the curated OMIM Gene-Disease Associations dataset.

vitamin d-dependent rickets, type i Gene Set

From OMIM Gene-Disease Associations

genes associated with the vitamin d-dependent rickets, type i phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

Vitamin B6 metabolism Gene Set

From PANTHER Pathways

proteins participating in the Vitamin B6 metabolism pathway from the PANTHER Pathways dataset.

Vitamin D metabolism and pathway Gene Set

From PANTHER Pathways

proteins participating in the Vitamin D metabolism and pathway pathway from the PANTHER Pathways dataset.

Vitamin D (calciferol) metabolism Gene Set

From Reactome Pathways

proteins participating in the Vitamin D (calciferol) metabolism pathway from the Reactome Pathways dataset.

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

From Reactome Pathways

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

Vitamin C (ascorbate) metabolism Gene Set

From Reactome Pathways

proteins participating in the Vitamin C (ascorbate) metabolism pathway from the Reactome Pathways dataset.

Vitamin B2 (riboflavin) metabolism Gene Set

From Reactome Pathways

proteins participating in the Vitamin B2 (riboflavin) metabolism pathway from the Reactome Pathways dataset.

Vitamin B1 (thiamin) metabolism Gene Set

From Reactome Pathways

proteins participating in the Vitamin B1 (thiamin) metabolism pathway from the Reactome Pathways dataset.

Metabolism of steroid hormones and vitamin D Gene Set

From Reactome Pathways

proteins participating in the Metabolism of steroid hormones and vitamin D pathway from the Reactome Pathways dataset.

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

From Reactome Pathways

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

Defects in vitamin and cofactor metabolism Gene Set

From Reactome Pathways

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

Vitamin B5 (pantothenate) metabolism Gene Set

From Reactome Pathways

proteins participating in the Vitamin B5 (pantothenate) metabolism pathway from the Reactome Pathways dataset.

Vitamin A and Carotenoid Metabolism(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Vitamin A and Carotenoid Metabolism(Homo sapiens) pathway from the Wikipathways Pathways dataset.

Vitamin D Metabolism(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Vitamin D Metabolism(Homo sapiens) pathway from the Wikipathways 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.

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.

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

From ClinVar Gene-Phenotype Associations

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

Cerebral folate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Phosphoserine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Carnitine acylcarnitine translocase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Succinyl-CoA acetoacetate transferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Carnitine palmitoyltransferase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Platelet-activating factor acetylhydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Gene Set

From ClinVar Gene-Phenotype Associations

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

Lipase deficiency combined Gene Set

From ClinVar Gene-Phenotype Associations

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

5-Oxoprolinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glucocorticoid deficiency with achalasia Gene Set

From ClinVar Gene-Phenotype Associations

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

Proopiomelanocortin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined Gene Set

From ClinVar Gene-Phenotype Associations

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

Intrinsic factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

21-hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glutaryl-CoA oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Corticosterone methyloxidase type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Thiopurine methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene Set

From ClinVar Gene-Phenotype Associations

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

Carnitine palmitoyltransferase II deficiency, infantile Gene Set

From ClinVar Gene-Phenotype Associations

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

Lactate dehydrogenase b deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 18 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 17 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 16 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 14 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 13 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 12 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 11 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 10 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of 3-hydroxyacyl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

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

Plasminogen deficiency, type I Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Molybdenum cofactor deficiency, complementation group C Gene Set

From ClinVar Gene-Phenotype Associations

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

Molybdenum cofactor deficiency, complementation group B Gene Set

From ClinVar Gene-Phenotype Associations

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

Molybdenum cofactor deficiency, complementation group A Gene Set

From ClinVar Gene-Phenotype Associations

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

Biotinidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal dominant isolated somatotropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypohidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of phosphoserine phosphatase Gene Set

From ClinVar Gene-Phenotype Associations

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

Isolated growth hormone deficiency type 1B Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of butyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

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

Anhidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

3 Methylcrotonyl-CoA carboxylase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of hyaluronoglucosaminidase Gene Set

From ClinVar Gene-Phenotype Associations

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

Sulfite oxidase deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

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

Plasminogen activator inhibitor type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 22 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 20 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 21 Gene Set

From ClinVar Gene-Phenotype Associations

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

Monoamine oxidase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Factor V deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Adenine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Glutamate formiminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypoglycemia with deficiency of glycogen synthetase in the liver Gene Set

From ClinVar Gene-Phenotype Associations

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

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.

Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Aromatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary factor II deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Factor xiii, a subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex III deficiency, nuclear type 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex III deficiency, nuclear type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Multiple sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Corticosteroid-binding globulin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 15 Gene Set

From ClinVar Gene-Phenotype Associations

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

Corticosterone methyloxidase type 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement component 9 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Holocarboxylase synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

2,4-Dienoyl-CoA reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of glycerate kinase Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of galactokinase Gene Set

From ClinVar Gene-Phenotype Associations

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

ACTH deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

PROPERDIN DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

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

Carboxylesterase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Purine-nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Neonatal intrahepatic cholestasis caused by citrin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement component 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Antithrombin III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Inosine triphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Growth hormone deficiency with pituitary anomalies Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Ulna and fibula absence of with severe limb deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Homocysteinemia due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of pyrroline-5-carboxylate reductase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of pyrroline-5-carboxylate reductase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Sarcosine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Branched-chain ketoacid dehydrogenase kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

L-ferritin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Medium-chain acyl-coenzyme A dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Arginase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hepatic lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Factor X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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.

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.

Leukocyte adhesion deficiency type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital lactase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Caspase-8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Phosphoglycerate kinase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Anaphylotoxin inactivator deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Cytochrome-c oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Enterokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency, primary, 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency, primary, 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency, primary, 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency, primary, 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Erythrocyte amp deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Factor VII deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Apolipoprotein a-i deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Gamma-aminobutyric acid transaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Myeloperoxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial phosphate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary factor XI deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

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

Porphobilinogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Very long chain acyl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

IRAK4 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Leukocyte adhesion deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Cortisone reductase deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Arginine:glycine amidinotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Methionine adenosyltransferase deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Muscle AMP deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Dihydropyrimidinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Dimethylglycine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of hydroxymethylglutaryl-CoA lyase Gene Set

From ClinVar Gene-Phenotype Associations

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

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase E1-alpha deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Isovaleryl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Cd59 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Ornithine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Sphingolipid activator protein 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of ferroxidase Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Deficiency of steroid 11-beta-monooxygenase Gene Set

From ClinVar Gene-Phenotype Associations

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

Lysosomal acid lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Dopamine beta hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Butyrylcholinesterase deficiency, fluoride-resistant, japanese type Gene Set

From ClinVar Gene-Phenotype Associations

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

UDPglucose-4-epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Homocystinuria due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of alpha-mannosidase Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Insulin-like growth factor I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Insulin-like growth factor I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Pyruvate carboxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Gluthathione synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Fumarase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of transaldolase Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial pyruvate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase E1-beta deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

MASP2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Argininosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Prekallikrein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Chitotriosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Anti-plasmin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Prothrombin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial trifunctional protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

GTP cyclohydrolase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of malonyl-CoA decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

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

3 beta-Hydroxysteroid dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Succinate-semialdehyde dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

X-linked agammaglobulinemia with growth hormone deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Okt4 epitope deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of acetyl-CoA acetyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Mineralocorticoid deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement 1s deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Dihydropteridine reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Mannose-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glucose transporter type 1 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Myd88 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Cd8 deficiency, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cd8 deficiency, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Acid-labile subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Fructose-biphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement factor B deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Obesity, severe, due to leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Beta-hydroxyisobutyryl-CoA deacylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary factor VIII deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

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

Proline dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Factor H deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glutamine deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Glycine N-methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Ornithine carbamoyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Sucrase-isomaltase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Cholesterol monooxygenase (side-chain cleaving) deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Fucosyltransferase 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Asparagine synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Adenylate kinase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined, 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined, 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of butyrylcholine esterase Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of glycerol kinase Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of xanthine oxidase Gene Set

From ClinVar Gene-Phenotype Associations

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

Urocanate hydratase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

4-Hydroxyphenylpyruvate dioxygenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Factor xiii, b subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

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

Growth deficiency and mental retardation with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Combined deficiency of sialidase AND beta galactosidase Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Prolidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of beta-ureidopropionase Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of guanidinoacetate methyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

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

MYD88 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYD88 Deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Gene Set

From CTD Gene-Disease Associations

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

Anemia, Iron-Deficiency Gene Set

From CTD Gene-Disease Associations

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

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

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

Platelet Glycoprotein IV Deficiency Gene Set

From CTD Gene-Disease Associations

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

Mitochondrial Phosphate Carrier Deficiency Gene Set

From CTD Gene-Disease Associations

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

Leukocyte Adhesion Deficiency, Type III Gene Set

From CTD Gene-Disease Associations

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

Prekallikrein Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylenetetrahydrofolate reductase deficiency Gene Set

From CTD Gene-Disease Associations

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

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 6-pyruvoyl-tetrahydropterin synthase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor XI Deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine palmitoyl transferase 1A deficiency Gene Set

From CTD Gene-Disease Associations

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

Preaxial deficiency, postaxial polydactyly and hypospadias Gene Set

From CTD Gene-Disease Associations

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

THYROTROPIN-RELEASING HORMONE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

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

Carbamoyl-Phosphate Synthase I Deficiency Disease Gene Set

From CTD Gene-Disease Associations

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

Tyrosine Kinase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

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

Properdin deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

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

COENZYME Q10 DEFICIENCY, PRIMARY, 1 Gene Set

From CTD Gene-Disease Associations

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

Glutathione synthetase deficiency Gene Set

From CTD Gene-Disease Associations

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

Glucocorticoid Deficiency 2 Gene Set

From CTD Gene-Disease Associations

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

Aniridia cerebellar ataxia mental deficiency Gene Set

From CTD Gene-Disease Associations

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

Combined Oxidative Phosphorylation Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Proopiomelanocortin Deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Glucocorticoid Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucocorticoid Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Intrinsic Factor Deficiency Gene Set

From CTD Gene-Disease Associations

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

Adenosine monophosphate deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenosine monophosphate deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

alpha 1-Antitrypsin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease alpha 1-Antitrypsin Deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 2 Gene Set

From CTD Gene-Disease Associations

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

Plasminogen Deficiency, Type I Gene Set

From CTD Gene-Disease Associations

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

IgA Deficiency Gene Set

From CTD Gene-Disease Associations

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

Lipase deficiency combined Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

DNA Repair-Deficiency Disorders Gene Set

From CTD Gene-Disease Associations

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

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

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

Enterokinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine Palmitoyltransferase II Deficiency, Late-Onset Gene Set

From CTD Gene-Disease Associations

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

Lactase Deficiency, Congenital Gene Set

From CTD Gene-Disease Associations

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

Lecithin Acyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Interleukin 2 Receptor, Alpha, Deficiency of Gene Set

From CTD Gene-Disease Associations

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

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From CTD Gene-Disease Associations

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

Beta ketothiolase deficiency Gene Set

From CTD Gene-Disease Associations

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

Transaldolase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Anti-plasmin deficiency, congenital Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

genes/proteins associated with the disease Succinyl-CoA:3-oxoacid CoA transferase deficiency from the curated CTD Gene-Disease Associations dataset.

CD8 Deficiency, Familial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CD8 Deficiency, Familial from the curated CTD Gene-Disease Associations dataset.

Neuraminidase 1 deficiency Gene Set

From CTD Gene-Disease Associations

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

Folic Acid Deficiency Gene Set

From CTD Gene-Disease Associations

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

Lysosomal acid lipase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lysosomal acid lipase deficiency from the curated CTD Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From CTD Gene-Disease Associations

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

Isolated Growth Hormone Deficiency, Type II Gene Set

From CTD Gene-Disease Associations

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

Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set

From CTD Gene-Disease Associations

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

Familial HDL deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine-Acylcarnitine Translocase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine-Acylcarnitine Translocase Deficiency 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.

Methylcobalamin Deficiency, CblG Type Gene Set

From CTD Gene-Disease Associations

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

Flaujeac factor deficiency Gene Set

From CTD Gene-Disease Associations

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

Ribose 5-Phosphate Isomerase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From CTD Gene-Disease Associations

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

VLCAD deficiency Gene Set

From CTD Gene-Disease Associations

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

18-Hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 18-Hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Creatine deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

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

Mitochondrial Complex III Deficiency Gene Set

From CTD Gene-Disease Associations

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

PROPROTEIN CONVERTASE 1/3 DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PROPROTEIN CONVERTASE 1/3 DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

genes/proteins associated with the disease LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

dopamine beta hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

genes/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.

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

From CTD Gene-Disease Associations

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

Ornithine Carbamoyltransferase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

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

Protein Deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor 8 deficiency, acquired Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor 8 deficiency, acquired from the curated CTD Gene-Disease Associations dataset.

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 2 deficiency from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I Gene Set

From CTD Gene-Disease Associations

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

Adenylosuccinate lyase deficiency Gene Set

From CTD Gene-Disease Associations

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

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Thiopurine S methyltranferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thiopurine S methyltranferase deficiency from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

3-Hydroxyacyl-CoA Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type IB Gene Set

From CTD Gene-Disease Associations

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

Molybdenum cofactor deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Phosphoglycerate Kinase 1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoglycerate Kinase 1 Deficiency from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II Gene Set

From CTD Gene-Disease Associations

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

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

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

Multiple Acyl Coenzyme A Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 from the curated CTD Gene-Disease Associations dataset.

Plasminogen Activator Inhibitor-1 Deficiency Gene Set

From CTD Gene-Disease Associations

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

Pyruvate Dehydrogenase E2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase E2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor V Deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Pyruvate Dehydrogenase Complex Deficiency Disease Gene Set

From CTD Gene-Disease Associations

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

Aromatic amino acid decarboxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aromatic amino acid decarboxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor X Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor X Deficiency 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.

Holocarboxylase Synthetase Deficiency Gene Set

From CTD Gene-Disease Associations

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

N-acetyl glutamate synthetase deficiency Gene Set

From CTD Gene-Disease Associations

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

Dimethylglycine Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Pituitary Hormone Deficiency, Combined, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 1 from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 2 from the curated CTD Gene-Disease Associations dataset.

Trehalase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Guanidinoacetate methyltransferase deficiency Gene Set

From CTD Gene-Disease Associations

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

Aminoacylase 1 deficiency Gene Set

From CTD Gene-Disease Associations

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

Antithrombin III Deficiency Gene Set

From CTD Gene-Disease Associations

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

Phosphoenolpyruvate carboxykinase deficiency Gene Set

From CTD Gene-Disease Associations

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

17-Hydroxysteroid Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 17-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Heparin Cofactor II Deficiency Gene Set

From CTD Gene-Disease Associations

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

Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency Gene Set

From CTD Gene-Disease Associations

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

D-BIFUNCTIONAL PROTEIN DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease D-BIFUNCTIONAL PROTEIN DEFICIENCY 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.

Arginine:Glycine Amidinotransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arginine:Glycine Amidinotransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Biotinidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

COMPLEMENT COMPONENT C1r/C1s DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT C1r/C1s DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Methionine Adenosyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Phosphoenolpyruvate carboxykinase 2 deficiency Gene Set

From CTD Gene-Disease Associations

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

Glycine N-Methyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Magnesium Deficiency Gene Set

From CTD Gene-Disease Associations

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

2-Methylbutyryl-CoA Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Glycosylphosphatidylinositol deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor Xiii, A Subunit, Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor Xiii, A Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency from the curated CTD Gene-Disease Associations dataset.

Leukocyte adhesion deficiency type 1 Gene Set

From CTD Gene-Disease Associations

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

Isobutyryl-CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

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

Dihydropyrimidine Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Corticosteroid-Binding Globulin Deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

ACTH Deficiency, Isolated Gene Set

From CTD Gene-Disease Associations

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

Factor XIII, B Subunit, Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor XIII, B Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

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.

Iron-Refractory Iron Deficiency Anemia Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Specific Granule Deficiency Gene Set

From CTD Gene-Disease Associations

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

Insulin-Like Growth Factor I Deficiency Gene Set

From CTD Gene-Disease Associations

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

Complement component 5 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement component 5 deficiency from the curated CTD Gene-Disease Associations dataset.

Complement Component 7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 7 Deficiency from the curated CTD Gene-Disease Associations dataset.

Lactate dehydrogenase deficiency type A Gene Set

From CTD Gene-Disease Associations

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

Pyruvate Dehydrogenase E3-Binding Protein Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase E3-Binding Protein Deficiency from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Cortisone reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cortisone reductase deficiency from the curated CTD Gene-Disease 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.

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.

3b-Hydroxysteroid Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3b-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Thiamine Deficiency Gene Set

From CTD Gene-Disease Associations

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

Mitochondrial Complex II Deficiency Gene Set

From CTD Gene-Disease Associations

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

Sucrase-isomaltase deficiency, congenital Gene Set

From CTD Gene-Disease Associations

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

Systemic carnitine deficiency Gene Set

From CTD Gene-Disease Associations

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

Gamma-cystathionase deficiency Gene Set

From CTD Gene-Disease Associations

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

Pituitary Hormone Deficiency, Combined, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 4 from the curated CTD Gene-Disease Associations dataset.

Combined Saposin Deficiency Gene Set

From CTD Gene-Disease Associations

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

Radial Ray Deficiency, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Radial Ray Deficiency, X-Linked from the curated CTD Gene-Disease Associations dataset.

Beta-Ureidopropionase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Combined Oxidative Phosphorylation Deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 1 from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 5 from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 4 from the curated CTD Gene-Disease Associations dataset.

Protein C Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Protein C 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.

succinic semialdehyde dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

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

Carboxypeptidase N Deficiency Gene Set

From CTD Gene-Disease Associations

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

Purine Nucleoside Phosphorylase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Complement Component 4, Partial Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 4, Partial Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Familial Glucocorticoid Deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial Glucocorticoid Deficiency 1 from the curated CTD Gene-Disease Associations dataset.

Endplate Acetylcholinesterase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor XIII Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor XIII Deficiency 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.

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

Fructose-1,6-Diphosphatase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fructose-1,6-Diphosphatase Deficiency from the curated CTD Gene-Disease Associations dataset.

MASP2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MASP2 Deficiency from the curated CTD Gene-Disease Associations dataset.

2,4-Dienoyl-CoA Reductase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 2,4-Dienoyl-CoA Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.

Alpha-ketoglutarate dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

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

Complement Factor H Deficiency Gene Set

From CTD Gene-Disease Associations

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

COMPLEMENT COMPONENT 2 DEFICIENCY Gene Set

From CTD Gene-Disease Associations

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

TRANSCOBALAMIN II DEFICIENCY Gene Set

From CTD Gene-Disease Associations

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

Prolidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Prolidase Deficiency 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.

Dihydropyrimidinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Deficiency Diseases Gene Set

From CTD Gene-Disease Associations

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

BISPHOSPHOGLYCERATE MUTASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

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

PROTHROMBIN DEFICIENCY, CONGENITAL Gene Set

From CTD Gene-Disease Associations

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

Carnitine Palmitoyltransferase II Deficiency, Infantile Gene Set

From CTD Gene-Disease Associations

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

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency from the curated CTD Gene-Disease Associations dataset.

CD59 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CD59 Deficiency from the curated CTD Gene-Disease Associations dataset.

Myeloperoxidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylmalonyl-CoA Epimerase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Mevalonate Kinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Complement Factor I Deficiency Gene Set

From CTD Gene-Disease Associations

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

Beta-Hydroxyisobutyryl CoA Deacylase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Beta-Hydroxyisobutyryl CoA Deacylase 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.

Hyaluronidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

3-methylcrotonyl CoA carboxylase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Multiple Sulfatase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

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

Lysosomal beta-mannosidase deficiency Gene Set

From CTD Gene-Disease Associations

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

Medium chain acyl CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

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

Familial apoceruloplasmin deficiency Gene Set

From CTD Gene-Disease Associations

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

Metachromatic Leukodystrophy due to Saposin B Deficiency Gene Set

From CTD Gene-Disease Associations

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

Glutamine deficiency, congenital Gene Set

From CTD Gene-Disease Associations

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

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.

Pyruvate Kinase Deficiency of Red Cells Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Kinase Deficiency of Red Cells from the curated CTD Gene-Disease Associations dataset.

Factor VII Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor VII Deficiency 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.

AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

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

IRAK4 Deficiency Gene Set

From CTD Gene-Disease Associations

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

Butyrylcholinesterase deficiency Gene Set

From CTD Gene-Disease Associations

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

Short chain Acyl CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

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

Gamma aminobutyric acid transaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma aminobutyric acid transaminase deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate Carboxylase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

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

Complement Component 6 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 6 Deficiency from the curated CTD Gene-Disease Associations dataset.

Glutamate formiminotransferase deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor XII Deficiency Gene Set

From CTD Gene-Disease Associations

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

Aromatase deficiency Gene Set

From CTD Gene-Disease Associations

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

Urocanase deficiency Gene Set

From CTD Gene-Disease Associations

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

Phosphoserine Aminotransferase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Ectodermal dysplasia, hypohidrotic, with immune deficiency Gene Set

From CTD Gene-Disease Associations

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

Immunoglobulin a deficiency 2 Gene Set

From CTD Gene-Disease Associations

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

Immunoglobulin a deficiency 1 Gene Set

From CTD Gene-Disease Associations

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

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

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

Glucosephosphate Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Mitochondrial complex I deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial complex I deficiency from the curated CTD Gene-Disease Associations dataset.

Follicle-stimulating hormone deficiency, isolated Gene Set

From CTD Gene-Disease Associations

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

Split-hand/foot malformation with long bone deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-hand/foot malformation with long bone deficiency from the curated CTD Gene-Disease Associations dataset.

Immunologic Deficiency Syndromes Gene Set

From CTD Gene-Disease Associations

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

protein s deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

systemic primary carnitine deficiency disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease systemic primary carnitine deficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

purine nucleoside phosphorylase deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease purine nucleoside phosphorylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

alpha 1-antitrypsin deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease alpha 1-antitrypsin deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

holocarboxylase synthetase deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

gamma chain deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

pyruvate decarboxylase deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

serine deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

complement deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

agat deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

prothrombin deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

complement factor i deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease complement factor i deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

glucosephosphate dehydrogenase deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

protein c deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

dihydropyrimidine dehydrogenase deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

biotinidase deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

beta-ketothiolase deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

ornithine carbamoyltransferase deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

factor v deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

ornithine translocase deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

cd40 ligand deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease cd40 ligand deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

b cell deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

3-methylcrotonyl-coa carboxylase deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease 3-methylcrotonyl-coa carboxylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

phgdh deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

succinic semialdehyde dehydrogenase deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease succinic semialdehyde dehydrogenase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

adenosine deaminase deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

antithrombin iii deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

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.

familial lipoprotein lipase deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease familial lipoprotein lipase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

multiple carboxylase deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

iron deficiency anemia Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

nutritional deficiency disease Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

choline deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

mhc class ii deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

t lymphocyte deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease t lymphocyte deficiency in abstracts of biomedical publications from the DISEASES Text-mining 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.

familial lipoprotein lipase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

complement deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

urethral intrinsic sphincter deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital intrinsic factor deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

folic acid deficiency anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

fructose-1,6-bisphosphatase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease fructose-1,6-bisphosphatase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

coenzyme q10 deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease coenzyme q10 deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

pyruvate decarboxylase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

psat deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

carbamoyl phosphate synthetase i deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

leukocyte adhesion deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

adenosine deaminase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

antithrombin iii deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

factor xiii deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

b cell linker protein deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

deficiency anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cd3delta deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease cd3delta deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

iron deficiency anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

protein s deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

gamma chain deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

immunoglobulin alpha deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

intestinal disaccharidase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

artemis deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cd40 deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease cd40 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

agat deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

dna ligase iv deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cd45 deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease cd45 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

factor viii deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cd3zeta deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease cd3zeta deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

factor vii deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

selective igg deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

factor xii deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cd40 ligand deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease cd40 ligand deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

serine deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

interleukin-7 receptor alpha deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cd3gamma deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease cd3gamma deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

multiple carboxylase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

nutritional deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease nutritional deficiency disease 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.

factor xi deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

coronin-1a deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease coronin-1a deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

3-methylcrotonyl-coa carboxylase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease 3-methylcrotonyl-coa carboxylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

factor x deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

systemic primary carnitine deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

purine nucleoside phosphorylase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

c1 inhibitor deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

prothrombin deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

holocarboxylase synthetase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

selective iga deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

pyridoxine deficiency anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

biotinidase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ornithine translocase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease ornithine translocase deficiency 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.

beta-ketothiolase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

platelet storage pool deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

succinic semialdehyde dehydrogenase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cd3epsilon deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease cd3epsilon deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

mhc class i deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

recombinase activating gene 1 deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease recombinase activating gene 1 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

t cell deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

alpha 1-antitrypsin deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease alpha 1-antitrypsin deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

psph deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

complement factor i deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

glucosephosphate dehydrogenase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

protein c deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

dihydropyrimidine dehydrogenase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

complement component 5 deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease complement component 5 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

ornithine carbamoyltransferase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

factor v deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

b cell deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

protein-deficiency anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

selective immunoglobulin deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

c3 deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease c3 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

galactokinase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

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

From GAD Gene-Disease Associations

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

alpha 1-antitrypsin deficiency; lung neoplasms; neoplasm of lung ; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; lung neoplasms; neoplasm of lung ; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glucosephosphate dehydrogenase deficiency; hyperbilirubinemia, neonatal Gene Set

From GAD Gene-Disease Associations

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

adenoma; adenomatous polyps; colonic polyps; colorectal neoplasms; hyperplasia; magnesium deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenoma; adenomatous polyps; colonic polyps; colorectal neoplasms; hyperplasia; magnesium deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

g6pd deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease g6pd deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

iga deficiency Gene Set

From GAD Gene-Disease Associations

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

alpha-thalassemia; anemia; glucosephosphate dehydrogenase deficiency; malaria, falciparum; sickle cell trait Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha-thalassemia; anemia; glucosephosphate dehydrogenase deficiency; malaria, falciparum; sickle cell trait in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; bronchitis, chronic; chronic bronchitis ; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; bronchitis, chronic; chronic bronchitis ; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

free protein s (type iia) deficiency Gene Set

From GAD Gene-Disease Associations

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

alpha 1-antitrypsin deficiency; wegener granulomatosis Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

tetrahydrobiopterin (bh4) deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease tetrahydrobiopterin (bh4) deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenoma; colorectal neoplasms; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

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

deficiency of coagulation factor v Gene Set

From GAD Gene-Disease Associations

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

alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase deficiency; hemolysis; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase deficiency; hemolysis; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

end-plate acetylcholinesterase deficiency (type ic) Gene Set

From GAD Gene-Disease Associations

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

protein s deficiency; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD 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.

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.

leigh syndrome and cytochrome c oxidase deficiency