Name

Combined Molybdoflavoprotein Enzyme Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Combined Molybdoflavoprotein Enzyme Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Combined molybdoflavoprotein enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined molybdoflavoprotein enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ribosomal S6 modification enzyme RimK/Lysine biosynthesis enzyme LysX Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ribosomal S6 modification enzyme RimK/Lysine biosynthesis enzyme LysX protein domain from the InterPro Predicted Protein Domain Annotations 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.

Mitochondrial Enzyme Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Mitochondrial Enzyme Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Bifunctional Peroxisomal Enzyme Deficiency Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Bifunctional Peroxisomal Enzyme Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Glycogen storage disease due to glycogen branching enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to glycogen branching enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Bifunctional peroxisomal enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Bifunctional peroxisomal enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

combined pituitary hormone deficiency Gene Set

From GAD Gene-Disease Associations

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

immunologic deficiency syndromes; severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

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

combined c6/c7 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined c6/c7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to il2 deficiency Gene Set

From OMIM Gene-Disease Associations

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

combined oxidative phosphorylation deficiency 20 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 20 phenotype from the curated OMIM Gene-Disease 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.

severe combined immunodeficiency due to ada deficiency Gene Set

From OMIM Gene-Disease Associations

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

c1r/c1s deficiency, combined Gene Set

From OMIM Gene-Disease Associations

genes associated with the c1r/c1s deficiency, combined phenotype from the curated OMIM Gene-Disease Associations dataset.

?combined oxidative phosphorylation deficiency 19 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?combined oxidative phosphorylation deficiency 19 phenotype from the curated OMIM Gene-Disease Associations dataset.

?combined oxidative phosphorylation deficiency 16 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?combined oxidative phosphorylation deficiency 16 phenotype from the curated OMIM Gene-Disease Associations dataset.

pituitary hormone deficiency, combined, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pituitary hormone deficiency, combined, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

factor v and factor viii, combined deficiency of Gene Set

From OMIM Gene-Disease Associations

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

combined oxidative phosphorylation deficiency 18 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 18 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 17 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 17 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 15 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 15 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

combined sap deficiency Gene Set

From OMIM Gene-Disease Associations

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

pituitary hormone deficiency, combined, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pituitary hormone deficiency, combined, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

pituitary hormone deficiency, combined, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pituitary hormone deficiency, combined, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

pituitary hormone deficiency, combined, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pituitary hormone deficiency, combined, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

pituitary hormone deficiency, combined, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pituitary hormone deficiency, combined, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

pituitary hormone deficiency, combined, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pituitary hormone deficiency, combined, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

lipase deficiency, combined Gene Set

From OMIM Gene-Disease Associations

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

combined factor v and viii deficiency Gene Set

From OMIM Gene-Disease Associations

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

combined oxidative phosphorylation deficiency 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

combined oxidative phosphorylation deficiency 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined oxidative phosphorylation deficiency 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

?combined oxidative phosphorylation deficiency 21 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?combined oxidative phosphorylation deficiency 21 phenotype from the curated OMIM Gene-Disease Associations dataset.

?combined oxidative phosphorylation deficiency 22 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?combined oxidative phosphorylation deficiency 22 phenotype from the curated OMIM Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Combined Oxidative Phosphorylation Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Combined Saposin Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Combined Saposin Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

C7 And C6 Deficiency, Combined Subtotal Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease C7 And C6 Deficiency, Combined Subtotal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Factor V And Factor Viii, Combined Deficiency Of Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Factor V And Factor Viii, Combined Deficiency Of in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

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

From DisGeNET Gene-Disease Associations

genes associated with the disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Lipase Deficiency Combined Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Lipase Deficiency Combined in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Combined Oxidative Phosphorylation Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 12 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Combined oxidative phosphorylation deficiency 12 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Combined oxidative phosphorylation deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 1 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Combined oxidative phosphorylation deficiency 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 12 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined saposin deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined saposin deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 4 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 3 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 1 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 52 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 52 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 39 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 39 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 6 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 32 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 32 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 21 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 21 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined deficiency of vitamin K-dependent clotting factors 1 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined deficiency of vitamin K-dependent clotting factors 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Hereditary combined deficiency of vitamin K-dependent clotting factors Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Hereditary combined deficiency of vitamin K-dependent clotting factors in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 54 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 54 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 30 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 30 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 10 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 24 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 24 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 31 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 31 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 29 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 29 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 34 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 34 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 49 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 49 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 43 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 43 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 19 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 9 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 7 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 20 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 20 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined deficiency of vitamin K-dependent clotting factors 2 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined deficiency of vitamin K-dependent clotting factors 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 18 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 18 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 22 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 22 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 23 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 23 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 35 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 35 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 13 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 27 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 27 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 26 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 26 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 15 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 15 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 40 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 40 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 14 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 14 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 5 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 33 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 33 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 11 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 16 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 16 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 8 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 51 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 51 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 44 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 44 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 25 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 25 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 53 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 53 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 17 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 17 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 28 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 28 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation deficiency 2 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined oxidative phosphorylation deficiency 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined deficiency of sialidase AND beta galactosidase Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to DCLRE1C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to DCLRE1C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the T-B+ severe combined immunodeficiency due to JAK3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to CD3gamma deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to CD3gamma deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to partial RAG1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to partial RAG1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to ZAP70 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to ZAP70 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined PSAP deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined PSAP deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined oxidative phosphorylation deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined oxidative phosphorylation deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to LRBA deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to LRBA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to STK4 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to STK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to STIM1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to STIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CARD11 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CARD11 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to DOCK8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to DOCK8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CTPS1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to ORAI1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to ORAI1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Non-acquired combined pituitary hormone deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Non-acquired combined pituitary hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined Pituitary Hormone Deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined Pituitary Hormone Deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CARMIL2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to moesin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to moesin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to DNA-PKcs deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CORO1A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to OX40 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to OX40 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to IKK2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to MALT1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to MALT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to LCK deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to LCK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to LAT deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to LAT deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to GINS1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to GINS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Impdh2 enzyme activity, variation in Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Impdh2 enzyme activity, variation in phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Angiotensin i-converting enzyme, benign serum increase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Angiotensin i-converting enzyme, benign serum increase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ubiquitin conjugating enzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

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

sumo activating enzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

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

tricarboxylic acid cycle enzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the tricarboxylic acid cycle enzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

apolipoprotein b mrna editing enzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the apolipoprotein b mrna editing enzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial tricarboxylic acid cycle enzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial tricarboxylic acid cycle enzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

ubiquitin conjugating enzyme complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

sumo activating enzyme complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

tricarboxylic acid cycle enzyme complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

udp-n-acetylglucosamine-lysosomal-enzyme n-acetylglucosaminephosphotransferase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the udp-n-acetylglucosamine-lysosomal-enzyme n-acetylglucosaminephosphotransferase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

apolipoprotein b mrna editing enzyme complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

mitochondrial tricarboxylic acid cycle enzyme complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

Raf1-PP2A core enzyme complex (Ppp2r1a, Ppp2ca), untreated Gene Set

From CORUM Protein Complexes

proteins in the Raf1-PP2A core enzyme complex (Ppp2r1a, Ppp2ca), untreated protein complex from the CORUM Protein Complexes dataset.

Ksr1-PP2A core enzyme complex (Ppp2r1a, Ppp2ca), untreated Gene Set

From CORUM Protein Complexes

proteins in the Ksr1-PP2A core enzyme complex (Ppp2r1a, Ppp2ca), untreated protein complex from the CORUM Protein Complexes dataset.

Enzyme Inhibitors Gene Set

From CTD Gene-Chemical Interactions

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

Angiotensin-Converting Enzyme Inhibitors Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Angiotensin-Converting Enzyme Inhibitors from the curated CTD Gene-Chemical Interactions dataset.

Angiotensin-Converting Enzyme Inhibitors Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Angiotensin-Converting Enzyme Inhibitors in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

enzyme activity Gene Set

From GAD Gene-Disease Associations

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

angiotensin-converting enzyme inhibitor-related cough Gene Set

From GAD Gene-Disease Associations

genes associated with the disease angiotensin-converting enzyme inhibitor-related cough in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

angiotensin-converting enzyme gene polymorphism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease angiotensin-converting enzyme gene polymorphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cough, angiotensin-converting enzyme; inhibitor-related Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cough, angiotensin-converting enzyme; inhibitor-related in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular disease and antioxidant enzyme defense Gene Set

From GAD Gene-Disease Associations

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

undetectable glucose-6-phosphate dehydrogenase enzyme activity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease undetectable glucose-6-phosphate dehydrogenase enzyme activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antiproteinuric effect of angiotensin i-converting enzyme inhibitors Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antiproteinuric effect of angiotensin i-converting enzyme inhibitors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

angiotensin-converting enzyme genotype Gene Set

From GAD Gene-Disease Associations

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

angiotensin i converting enzyme and cytokine gene polymorphisms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease angiotensin i converting enzyme and cytokine gene polymorphisms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

angiotensin-converting enzyme activity Gene Set

From GAD Gene-Disease Associations

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

angiotensin-converting enzyme inhibitors Gene Set

From GAD Gene-Disease Associations

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

dramatically increased serum enzyme levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dramatically increased serum enzyme levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

sulfotransferases enzyme activity Gene Set

From GAD Gene-Disease Associations

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

enzyme Gene Set

From GeneRIF Biological Term Annotations

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

enzyme-directed rrna 2'-o-methylation Gene Set

From GO Biological Process Annotations 2015

genes participating in the enzyme-directed rrna 2'-o-methylation biological process from the curated GO Biological Process Annotations 2015 dataset.

recruitment of mrna capping enzyme to rna polymerase ii holoenzyme complex Gene Set

From GO Biological Process Annotations 2015

genes participating in the recruitment of mrna capping enzyme to rna polymerase ii holoenzyme complex biological process from the curated GO Biological Process Annotations 2015 dataset.

enzyme active site formation via l-cysteine sulfinic acid Gene Set

From GO Biological Process Annotations 2015

genes participating in the enzyme active site formation via l-cysteine sulfinic acid biological process from the curated GO Biological Process Annotations 2015 dataset.

enzyme active site formation via l-cysteine persulfide Gene Set

From GO Biological Process Annotations 2015

genes participating in the enzyme active site formation via l-cysteine persulfide biological process from the curated GO Biological Process Annotations 2015 dataset.

enzyme active site formation Gene Set

From GO Biological Process Annotations 2015

genes participating in the enzyme active site formation biological process from the curated GO Biological Process Annotations 2015 dataset.

enzyme linked receptor protein signaling pathway Gene Set

From GO Biological Process Annotations 2015

genes participating in the enzyme linked receptor protein signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset.

ubiquitin conjugating enzyme complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the ubiquitin conjugating enzyme complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

sumo activating enzyme complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the sumo activating enzyme complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

tricarboxylic acid cycle enzyme complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the tricarboxylic acid cycle enzyme complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

apolipoprotein b mrna editing enzyme complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the apolipoprotein b mrna editing enzyme complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

mitochondrial tricarboxylic acid cycle enzyme complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the mitochondrial tricarboxylic acid cycle enzyme complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

fat10 activating enzyme activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the fat10 activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

radical sam enzyme activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the radical sam enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

small protein activating enzyme binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the small protein activating enzyme binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

sumo activating enzyme activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the sumo activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

atg8 activating enzyme activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the atg8 activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

enzyme activator activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the enzyme activator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

enzyme binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the enzyme binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

ubiquitin-like protein conjugating enzyme activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the ubiquitin-like protein conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

sumo conjugating enzyme activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the sumo conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

ubiquitin conjugating enzyme binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the ubiquitin conjugating enzyme binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

urm1 activating enzyme activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the urm1 activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

rna polymerase core enzyme binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the rna polymerase core enzyme binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

ufm1 activating enzyme activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the ufm1 activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

enzyme regulator activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the enzyme regulator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

ubiquitin conjugating enzyme activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the ubiquitin conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

udp-n-acetylglucosamine-lysosomal-enzyme n-acetylglucosaminephosphotransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the udp-n-acetylglucosamine-lysosomal-enzyme n-acetylglucosaminephosphotransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

atg12 activating enzyme activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the atg12 activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

ubiquitin activating enzyme activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the ubiquitin activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

ubiquitin-like protein conjugating enzyme binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the ubiquitin-like protein conjugating enzyme binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

small protein activating enzyme activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the small protein activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

malic enzyme activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the malic enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

isg15 activating enzyme activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the isg15 activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

rna lariat debranching enzyme activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the rna lariat debranching enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

1,4-alpha-glucan branching enzyme activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the 1,4-alpha-glucan branching enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

glycogen debranching enzyme activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the glycogen debranching enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

enzyme inhibitor activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the enzyme inhibitor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

nedd8 activating enzyme activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the nedd8 activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Liver enzyme levels (gamma-glutamyl transferase) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Liver enzyme levels (gamma-glutamyl transferase) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Liver enzyme levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

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

Angiotensin-converting enzyme activity Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Angiotensin-converting enzyme activity phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Liver enzyme levels (alanine transaminase) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Liver enzyme levels (alanine transaminase) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Liver enzyme levels (aspartate transaminase) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Liver enzyme levels (aspartate transaminase) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Liver enzyme levels (alkaline phosphatase) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Liver enzyme levels (alkaline phosphatase) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

mitochondrial malic enzyme reduced Gene Set

From HPO Gene-Disease Associations

genes associated with the mitochondrial malic enzyme reduced phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of circulating enzyme level Gene Set

From HPO Gene-Disease Associations

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

abnormal enzyme/coenzyme activity Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal enzyme/coenzyme activity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Thiamine pyrophosphate enzyme, C-terminal TPP-binding Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Thiamine pyrophosphate enzyme, C-terminal TPP-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin-like 1 activating enzyme, catalytic cysteine domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-like 1 activating enzyme, catalytic cysteine domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

AMP-binding enzyme C-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the AMP-binding enzyme C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

MiaB-like tRNA modifying enzyme, archaeal-type Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the MiaB-like tRNA modifying enzyme, archaeal-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Scavenger mRNA decapping enzyme DcpS/DCS2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Scavenger mRNA decapping enzyme DcpS/DCS2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Thiolase, acyl-enzyme intermediate active site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Thiolase, acyl-enzyme intermediate active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin-activating enzyme repeat Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-activating enzyme repeat protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Malic enzyme, N-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Malic enzyme, N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin/SUMO-activating enzyme ubiquitin-like domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin/SUMO-activating enzyme ubiquitin-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Peptidase A1, beta-site APP cleaving enzyme 1, BACE 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peptidase A1, beta-site APP cleaving enzyme 1, BACE 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Atrial natriuretic peptide-converting enzyme corin Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Atrial natriuretic peptide-converting enzyme corin protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin-activating enzyme Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-activating enzyme protein domain from the InterPro Predicted Protein Domain Annotations dataset.

SUMO-conjugating enzyme Ubc9 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the SUMO-conjugating enzyme Ubc9 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

mRNA capping enzyme, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the mRNA capping enzyme, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

mRNA capping enzyme, bifunctional Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the mRNA capping enzyme, bifunctional protein domain from the InterPro Predicted Protein Domain Annotations dataset.

1,4-alpha-glucan-branching enzyme, GlgB Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 1,4-alpha-glucan-branching enzyme, GlgB protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Malic enzyme, NAD-binding Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Malic enzyme, NAD-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin-activating enzyme e1, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-activating enzyme e1, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Thiamine pyrophosphate enzyme, central domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Thiamine pyrophosphate enzyme, central domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycogen debranching enzyme Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycogen debranching enzyme protein domain from the InterPro Predicted Protein Domain Annotations dataset.

TPP-binding enzyme, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the TPP-binding enzyme, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

tRNA-i(6)A37 modification enzyme MiaB Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the tRNA-i(6)A37 modification enzyme MiaB protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycogen debranching enzyme, metazoa Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycogen debranching enzyme, metazoa protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Endothelin-converting enzyme 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Endothelin-converting enzyme 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Endothelin-converting enzyme 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Endothelin-converting enzyme 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin-activating enzyme, E1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-activating enzyme, E1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin-fold modifier-conjugating enzyme 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-fold modifier-conjugating enzyme 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Endothelin-converting enzyme-like 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Endothelin-converting enzyme-like 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin-conjugating enzyme E2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-conjugating enzyme E2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

mRNA capping enzyme Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the mRNA capping enzyme protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Eukaryotic glycogen debranching enzyme, N-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Eukaryotic glycogen debranching enzyme, N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mandelate racemase/muconate lactonizing enzyme/methylaspartate ammonia-lyase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mandelate racemase/muconate lactonizing enzyme/methylaspartate ammonia-lyase 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.

Ubiquitin-activating enzyme, E1, active site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-activating enzyme, E1, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

CDK5 and ABL1 enzyme substrate 1/2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the CDK5 and ABL1 enzyme substrate 1/2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Peptidase A1, beta-site APP cleaving enzyme, BACE Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peptidase A1, beta-site APP cleaving enzyme, BACE protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Prohormone convertase enzyme Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Prohormone convertase enzyme protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin-conjugating enzyme/RWD-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-conjugating enzyme/RWD-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mandelate racemase/muconate lactonizing enzyme, N-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mandelate racemase/muconate lactonizing enzyme, N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin-conjugating enzyme E2-binding protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-conjugating enzyme E2-binding protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mandelate racemase/muconate lactonizing enzyme, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mandelate racemase/muconate lactonizing enzyme, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Scavenger mRNA decapping enzyme, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Scavenger mRNA decapping enzyme, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lariat debranching enzyme, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lariat debranching enzyme, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mandelate racemase/muconate lactonizing enzyme, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mandelate racemase/muconate lactonizing enzyme, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA breaking-rejoining enzyme, catalytic core Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA breaking-rejoining enzyme, catalytic core protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin-like modifier-activating enzyme Atg7 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-like modifier-activating enzyme Atg7 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin/SUMO-activating enzyme E1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin/SUMO-activating enzyme E1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin activating enzyme, alpha domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin activating enzyme, alpha domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutathione-dependent formaldehyde-activating enzyme/centromere protein V Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutathione-dependent formaldehyde-activating enzyme/centromere protein V protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin-conjugating enzyme, active site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin-conjugating enzyme, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Peptidase A1, beta-site APP cleaving enzyme 2, BACE 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peptidase A1, beta-site APP cleaving enzyme 2, BACE 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Malic enzyme, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Malic enzyme, conserved site 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.

Tryptophan synthase beta subunit-like PLP-dependent enzyme Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tryptophan synthase beta subunit-like PLP-dependent enzyme protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cys/Met metabolism, pyridoxal phosphate-dependent enzyme Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cys/Met metabolism, pyridoxal phosphate-dependent enzyme protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Sulfatase-modifying factor enzyme Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sulfatase-modifying factor enzyme protein domain from the InterPro Predicted Protein Domain Annotations dataset.

abnormal angiotensin i-converting enzyme activity Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal angiotensin i-converting enzyme activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased lysosomal enzyme secretion Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased lysosomal enzyme secretion phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased lysosomal enzyme secretion Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased lysosomal enzyme secretion phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased angiotensin i-converting enzyme activity Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased angiotensin i-converting enzyme activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal enzyme/ coenzyme level Gene Set

From MPO Gene-Phenotype Associations

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

increased angiotensin i-converting enzyme activity Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased angiotensin i-converting enzyme activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal circulating enzyme level Gene Set

From MPO Gene-Phenotype Associations

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

abnormal urine enzyme level Gene Set

From MPO Gene-Phenotype Associations

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

abnormal enzyme/coenzyme activity Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal enzyme/coenzyme activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

[impdh2 enzyme activity, variation in] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [impdh2 enzyme activity, variation in] phenotype from the curated OMIM Gene-Disease Associations dataset.

[angiotensin i-converting enzyme, benign serum increase] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [angiotensin i-converting enzyme, benign serum increase] phenotype from the curated OMIM Gene-Disease Associations dataset.

enzyme-inhibitors Gene Set

From Phosphosite Textmining Biological Term Annotations

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

tissues, cell types and enzyme sources Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue tissues, cell types and enzyme sources from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

tissues, cell types and enzyme sources Gene Set

From TISSUES Experimental Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue tissues, cell types and enzyme sources in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.

tissues, cell types and enzyme sources Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue tissues, cell types and enzyme sources in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

Fast Acetylator Due To N-Acetyltransferase Enzyme Variant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Fast Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Slow Acetylator Due To N-Acetyltransferase Enzyme Variant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Slow Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Finding Of Liver Enzyme Levels Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Finding Of Liver Enzyme Levels in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Measurement Of Liver Enzyme Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Measurement Of Liver Enzyme in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Abnormality Of Circulating Enzyme Level Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Abnormality Of Circulating Enzyme Level in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Angiotensin I-Converting Enzyme, Benign Serum Increase Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Angiotensin I-Converting Enzyme, Benign Serum Increase in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Enzyme Inhibition Disorder Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Enzyme Inhibition Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Abnormal Enzyme/Coenzyme Activity Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Abnormal Enzyme/Coenzyme Activity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Mitochondrial Malic Enzyme Reduced Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Mitochondrial Malic Enzyme Reduced in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Impdh2 Enzyme Activity, Variation In Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Impdh2 Enzyme Activity, Variation In in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Enzyme Activity Finding Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Enzyme Activity Finding in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

enzyme-linked receptor protein signaling pathway Gene Set

From GO Biological Process Annotations 2023

genes participating in the enzyme-linked receptor protein signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset.

enzyme-directed rRNA pseudouridine synthesis Gene Set

From GO Biological Process Annotations 2023

genes participating in the enzyme-directed rRNA pseudouridine synthesis biological process from the curated GO Biological Process Annotations 2023 dataset.

recruitment of mRNA capping enzyme to RNA polymerase II holoenzyme complex Gene Set

From GO Biological Process Annotations 2023

genes participating in the recruitment of mRNA capping enzyme to RNA polymerase II holoenzyme complex biological process from the curated GO Biological Process Annotations 2023 dataset.

UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.

ubiquitin conjugating enzyme activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the ubiquitin conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

ubiquitin-like protein conjugating enzyme binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the ubiquitin-like protein conjugating enzyme binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

ubiquitin conjugating enzyme binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the ubiquitin conjugating enzyme binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

malic enzyme activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the malic enzyme activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

small protein activating enzyme binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the small protein activating enzyme binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

SUMO conjugating enzyme activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the SUMO conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

1,4-alpha-glucan branching enzyme activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the 1,4-alpha-glucan branching enzyme activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

NEDD8 conjugating enzyme activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the NEDD8 conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

RNA lariat debranching enzyme activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the RNA lariat debranching enzyme activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

RNA polymerase core enzyme binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the RNA polymerase core enzyme binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

UFM1 conjugating enzyme activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the UFM1 conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

RNA lariat debranching enzyme activator activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the RNA lariat debranching enzyme activator activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

ubiquitin-like protein conjugating enzyme activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the ubiquitin-like protein conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

abnormal enzyme/coenzyme level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal enzyme/coenzyme level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal enzyme/coenzyme activity Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal enzyme/coenzyme activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal circulating enzyme level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal circulating enzyme level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal urine enzyme level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal urine enzyme level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased lysosomal enzyme secretion Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased lysosomal enzyme secretion phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased angiotensin I-converting enzyme activity Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased angiotensin I-converting enzyme activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased lysosomal enzyme secretion Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased lysosomal enzyme secretion phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased angiotensin I-converting enzyme activity Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased angiotensin I-converting enzyme activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal angiotensin I-converting enzyme activity Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal angiotensin I-converting enzyme activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

enzyme-linked receptor protein signaling pathway Gene Set

From GO Biological Process Annotations 2025

genes participating in the enzyme-linked receptor protein signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset.

enzyme-directed rRNA pseudouridine synthesis Gene Set

From GO Biological Process Annotations 2025

genes participating in the enzyme-directed rRNA pseudouridine synthesis biological process from the curated GO Biological Process Annotations 2025 dataset.

UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.

ubiquitin conjugating enzyme activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the ubiquitin conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

ubiquitin-like protein conjugating enzyme binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the ubiquitin-like protein conjugating enzyme binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

ubiquitin conjugating enzyme binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the ubiquitin conjugating enzyme binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

malic enzyme activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the malic enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

small protein activating enzyme binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the small protein activating enzyme binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

SUMO conjugating enzyme activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the SUMO conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

1,4-alpha-glucan branching enzyme activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the 1,4-alpha-glucan branching enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

NEDD8 conjugating enzyme activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the NEDD8 conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Atg12 conjugating enzyme activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the Atg12 conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Atg8-family conjugating enzyme activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the Atg8-family conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

RNA lariat debranching enzyme activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the RNA lariat debranching enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

RNA polymerase core enzyme binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the RNA polymerase core enzyme binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

UFM1 conjugating enzyme activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the UFM1 conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

RNA lariat debranching enzyme activator activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the RNA lariat debranching enzyme activator activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

ubiquitin-like protein conjugating enzyme activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the ubiquitin-like protein conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

tissues, cell types and enzyme sources Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores 2025

proteins highly expressed in the tissue tissues, cell types and enzyme sources from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.

tissues, cell types and enzyme sources Gene Set

From TISSUES Experimental Tissue Protein Expression Evidence Scores 2025

proteins highly expressed in the tissue tissues, cell types and enzyme sources in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.

tissues, cell types and enzyme sources Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue tissues, cell types and enzyme sources in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Tricarboxylic acid cycle enzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Tricarboxylic acid cycle enzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Apolipoprotein B mRNA editing enzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Apolipoprotein B mRNA editing enzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

SUMO activating enzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the SUMO activating enzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Ubiquitin conjugating enzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Ubiquitin conjugating enzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Mitochondrial tricarboxylic acid cycle enzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Mitochondrial tricarboxylic acid cycle enzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Apolipoprotein B mRNA editing enzyme complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Apolipoprotein B mRNA editing enzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Tricarboxylic acid cycle enzyme complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Tricarboxylic acid cycle enzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Mitochondrial tricarboxylic acid cycle enzyme complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Mitochondrial tricarboxylic acid cycle enzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

SUMO activating enzyme complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the SUMO activating enzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Ubiquitin conjugating enzyme complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Ubiquitin conjugating enzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Ubiquitin activating enzyme complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Ubiquitin activating enzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Abnormal circulating enzyme concentration Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Abnormal circulating enzyme concentration phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Enzyme activity finding Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Enzyme activity finding phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Cough in response to angiotensin-converting enzyme inhibitor drugs Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cough in response to angiotensin-converting enzyme inhibitor drugs phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cerebrospinal fluid beta-site APP cleaving enzyme levels Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cerebrospinal fluid beta-site APP cleaving enzyme levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Liver enzyme levels (alanine transaminase) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Liver enzyme levels (alanine transaminase) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Liver enzyme levels (aspartate transaminase) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Liver enzyme levels (aspartate transaminase) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Liver enzyme levels Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Liver enzyme levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Liver enzyme levels (gamma-glutamyl transferase) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Liver enzyme levels (gamma-glutamyl transferase) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Liver enzyme levels (alkaline phosphatase) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Liver enzyme levels (alkaline phosphatase) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Angiotensin-converting enzyme activity Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Angiotensin-converting enzyme activity phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

PEG-asparaginase hypersensitivity without enzyme activity in childhood acute lymphoblastic leukaemia Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the PEG-asparaginase hypersensitivity without enzyme activity in childhood acute lymphoblastic leukaemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Angiotensin-converting enzyme inhibitor intolerance Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Angiotensin-converting enzyme inhibitor intolerance phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

ENZYME INHIBITOR Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the ENZYME INHIBITOR drug from theDGIdb Drug Targets 2026 dataset.

Neuraminidase deficiency with beta-galactosidase deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

choline deficiency; dna damage; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

anemia, iron-deficiency; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From Reactome Pathways 2014

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 2014

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 2014

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

Defective HK1 causes hexokinase deficiency (HK deficiency) Gene Set

From Reactome Pathways 2024

proteins participating in the Defective HK1 causes hexokinase deficiency (HK deficiency) pathway from the Reactome Pathways 2024 dataset.

Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Sulfite oxidase deficiency due to molybdenum cofactor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined cellular and humoral immune defects with granulomas Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined cellular and humoral immune defects with granulomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined d-2- and l-2-hydroxyglutaric aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked severe combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency 18, severe combined immunodeficiency variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency 18, severe combined immunodeficiency variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined immunodeficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, atypical Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, atypical phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperlipidemia, familial combined Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined malonic and methylmalonic aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined malonic and methylmalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency with sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anesthetics, Combined Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Anesthetics, Combined from the curated CTD Gene-Chemical Interactions dataset.

Contraceptives, Oral, Combined Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Contraceptives, Oral, Combined from the curated CTD Gene-Chemical Interactions dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset.

Hyperlipidemia, Familial Combined Gene Set

From CTD Gene-Disease Associations

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

Severe Combined Immunodeficiency Gene Set

From CTD Gene-Disease Associations

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

Combined Cellular And Humoral Immune Defects With Granulomas Gene Set

From CTD Gene-Disease Associations

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

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation from the curated CTD Gene-Disease Associations dataset.

X-Linked Combined Immunodeficiency Diseases Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease X-Linked Combined Immunodeficiency Diseases from the curated CTD Gene-Disease Associations dataset.

severe combined immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

combined t cell and b cell immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease combined t cell and b cell immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

familial combined hyperlipidemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

lung combined type small cell carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease lung combined type small cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

severe combined immunodeficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

combined thymoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

combined t cell and b cell immunodeficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease combined t cell and b cell immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

hyperlipidemia, familial combined Gene Set

From GAD Gene-Disease Associations

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

hyperlipidemia, familial combined; insulin resistance; mixed hyperlipidemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperlipidemia, familial combined; insulin resistance; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary artery disease; hyperlipidemia, familial combined Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary artery disease; hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

familial combined hyperlipidemia Gene Set

From GAD Gene-Disease Associations

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

hyperlipidemia, familial combined; mixed hyperlipidemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperlipidemia, familial combined; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

familial combined hyperlipidaemia. Gene Set

From GAD Gene-Disease Associations

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

combined bone mass Gene Set

From GAD Gene-Disease Associations

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

fam hyperbetalipoproteinaemia; hyperlipidemia, familial combined; hyperlipoproteinemia type ii; hypertriglyceridemia; mixed hyperlipidemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fam hyperbetalipoproteinaemia; hyperlipidemia, familial combined; hyperlipoproteinemia type ii; hypertriglyceridemia; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lymphopenia; scid; severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

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

cardiovascular diseases; coronary artery disease; hyperlipidemia, familial combined; mixed hyperlipidemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; coronary artery disease; hyperlipidemia, familial combined; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

atherosclerosis; hyperlipidemia, familial combined Gene Set

From GAD Gene-Disease Associations

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

x-linked severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease x-linked severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

crohn's disease and sarcoidosis (combined) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease crohn's disease and sarcoidosis (combined) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary artery disease; hyperlipidemia, familial combined; metabolic syndrome x; mixed hyperlipidemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary artery disease; hyperlipidemia, familial combined; metabolic syndrome x; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood pressure; hyperlipidemia, familial combined Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood pressure; hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; hyperlipidemia, familial combined Gene Set

From GAD Gene-Disease Associations

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

combined Gene Set

From GeneRIF Biological Term Annotations

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

Familial combined hyperlipidaemia_Blood monocyte_GSE11393 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Familial combined hyperlipidaemia_Blood monocyte_GSE11393 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Familial combined hyperlipidaemia_lymphoblast_GSE1010 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Familial combined hyperlipidaemia_lymphoblast_GSE1010 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Schizophrenia, bipolar disorder and depression (combined) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Schizophrenia, bipolar disorder and depression (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Attention deficit hyperactivity disorder (combined symptoms) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Attention deficit hyperactivity disorder (combined symptoms) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Sclerosing cholangitis and ulcerative colitis (combined) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Sclerosing cholangitis and ulcerative colitis (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Bipolar disorder and major depressive disorder (combined) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Bipolar disorder and major depressive disorder (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

combined hyperlipidemia Gene Set

From HPO Gene-Disease Associations

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

severe combined immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the severe combined immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

combined immunodeficiency Gene Set

From HPO Gene-Disease Associations

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

Hyperlipidemia, Familial Combined Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Hyperlipidemia, Familial Combined phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Severe Combined Immunodeficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Severe Combined Immunodeficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

combined hyperlipidemia, familial Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined hyperlipidemia, familial phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive phenotype from the curated OMIM Gene-Disease Associations dataset.

combined malonic and methylmalonic aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined malonic and methylmalonic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

combined d-2- and l-2-hydroxyglutaric aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

combined immunodeficiency, x-linked, moderate Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined immunodeficiency, x-linked, moderate phenotype from the curated OMIM Gene-Disease Associations dataset.

combined cellular and humoral immune defects with granulomas Gene Set

From OMIM Gene-Disease Associations

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

severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, b cell-negative Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, b cell-negative phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, athabascan type Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, athabascan type phenotype from the curated OMIM Gene-Disease Associations dataset.

{hyperlipidemia, familial combined, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hyperlipidemia, familial combined, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperlipidemia, combined, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperlipidemia, combined, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

Severe Combined Immunodeficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Combined Immunodeficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Combined Malonic And Methylmalonic Aciduria Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Combined Malonic And Methylmalonic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Combined Immunodeficiency Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Combined Immunodeficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Combined Pulmonary Fibrosis And Emphysema Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Combined Pulmonary Fibrosis And Emphysema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Combined Hepatocellular Carcinoma And Cholangiocarcinoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Combined Hepatocellular Carcinoma And Cholangiocarcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Obsolete Combined Hyperlipidemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Obsolete Combined Hyperlipidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Subacute Combined Degeneration Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Subacute Combined Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Primary Combined Hyperlipidemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Primary Combined Hyperlipidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Oi-Eds Combined Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Oi-Eds Combined Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Combined D-2- And L-2-Hydroxyglutaric Aciduria Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Combined D-2- And L-2-Hydroxyglutaric Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Athabaskan Severe Combined Immunodeficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Athabaskan Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Combined Large Cell Neuroendocrine Carcinoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Combined Large Cell Neuroendocrine Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Combined Small Cell Carcinoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Combined Small Cell Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Combined Type Small Cell Lung Cancer Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Combined Type Small Cell Lung Cancer in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Combined Cellular And Humoral Immune Defects With Granulomas Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Combined Cellular And Humoral Immune Defects With Granulomas in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Other Combined Immunodeficiencies Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Other Combined Immunodeficiencies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hyperlipidemia, Familial Combined, Susceptibility To Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Hyperlipidemia, Familial Combined, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe combined immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Combined immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Combined malonic and methylmalonic acidemia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Combined malonic and methylmalonic acidemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Combined T cell and B cell immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Combined T cell and B cell immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

X-linked severe combined immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease X-linked severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Combined D-2- and L-2-hydroxyglutaric aciduria Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined D-2- and L-2-hydroxyglutaric aciduria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined immunodeficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe combined immunodeficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined T cell and B cell immunodeficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined T cell and B cell immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

X-linked severe combined immunodeficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease X-linked severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Familial combined hyperlipidemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Familial combined hyperlipidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined thymoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined thymoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined malonic and methylmalonic acidemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined malonic and methylmalonic acidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined cellular and humoral immune defects with granulomas Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Combined cellular and humoral immune defects with granulomas in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Lung combined large cell neuroendocrine carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Lung combined large cell neuroendocrine carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Lung combined type small cell carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Lung combined type small cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Combined oxidative phosphorylation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency disease Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

CblC combined methylmalonic aciduria and homocystinuria Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the CblC combined methylmalonic aciduria and homocystinuria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hepatoencephalopathy due to combined oxidative phosphorylation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hepatoencephalopathy due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Athabaskan severe combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Athabaskan severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Fatal mitochondrial disease due to combined oxidative phosphorylation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Fatal mitochondrial disease due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined pituitary hormone deficiencies Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined pituitary hormone deficiencies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked severe combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

ZAP70-Related Severe Combined Immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the ZAP70-Related Severe Combined Immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency and megaloblastic anemia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency and megaloblastic anemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Rare combined vascular malformation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rare combined vascular malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined osteogenesis imperfecta and Ehlers-Danlos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined malonic and methylmalonic acidemia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined malonic and methylmalonic acidemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

TFRC-related combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the TFRC-related combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Liver injury in combined anti-retroviral and anti-tuberculosis drug-treated HIV with tuberculosis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Liver injury in combined anti-retroviral and anti-tuberculosis drug-treated HIV with tuberculosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Gout (combined type) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Gout (combined type) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Lean body mass and age at menarche (combined) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Lean body mass and age at menarche (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Schizophrenia, bipolar disorder and depression (combined) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Schizophrenia, bipolar disorder and depression (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Sclerosing cholangitis and ulcerative colitis (combined) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Sclerosing cholangitis and ulcerative colitis (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Bone mineral density change response to combined chemotherapy in acute lymphoblastic leukemia Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Bone mineral density change response to combined chemotherapy in acute lymphoblastic leukemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Parental longevity (combined parental attained age, Martingale residuals) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Parental longevity (combined parental attained age, Martingale residuals) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Parental longevity (combined parental age at death) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Parental longevity (combined parental age at death) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

PMC5473732-mmc4.xlsx-TFM_sex-combined-Unnamed_11_AR Gene Set

From Rummagene Transcription Factor Associations 2026

target genes of the PMC5473732-mmc4.xlsx-TFM_sex-combined-Unnamed_11_AR transcription factor from the Rummagene Transcription Factor Associations 2026 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Corticosterone methyloxidase type 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement component 9 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Holocarboxylase synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

2,4-Dienoyl-CoA reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of glycerate kinase Gene Set

From ClinVar Gene-Phenotype Associations

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

Ataxia with vitamin E deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of galactokinase Gene Set

From ClinVar Gene-Phenotype Associations

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

ACTH deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

PROPERDIN DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

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

Carboxylesterase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Purine-nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Neonatal intrahepatic cholestasis caused by citrin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement component 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Antithrombin III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Inosine triphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Growth hormone deficiency with pituitary anomalies Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Ulna and fibula absence of with severe limb deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Homocysteinemia due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of pyrroline-5-carboxylate reductase Gene Set

From ClinVar Gene-Phenotype Associations

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

Immunodeficiency due to ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Sarcosine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Branched-chain ketoacid dehydrogenase kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

L-ferritin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Medium-chain acyl-coenzyme A dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Arginase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hepatic lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Factor X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase E3-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary factor IX deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

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

Alpha-fetoprotein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypermethioninemia due to adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.