Name

Iron deficiency Gene Set

From GWAS Catalog SNP-Phenotype Associations

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

Iron Deficiency Gene Set

From DisGeNET Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

anemia, iron-deficiency; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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.

iron-refractory iron deficiency anemia Gene Set

From OMIM Gene-Disease Associations

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

Iron-Refractory Iron Deficiency Anemia Gene Set

From DisGeNET Gene-Disease Associations

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

Iron-refractory iron deficiency anemia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Iron-refractory iron deficiency anemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

hemochromatosis; iron metabolism disorders; iron overload Gene Set

From GAD Gene-Disease Associations

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

iron metabolism disorders; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease iron metabolism disorders; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Iron status biomarkers (total iron binding capacity) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Iron status biomarkers (total iron binding capacity) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Iron status biomarkers (iron levels) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Iron status biomarkers (iron levels) phenotype in GWAS datasets from the GWAS Catalog SNP-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.

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.

iron deficiency anemia Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores

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

iron deficiency anemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

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

From GAD Gene-Disease Associations

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

anemia, iron deficiency Gene Set

From GAD Gene-Disease Associations

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

anemia, iron deficiency; anemia of chronic disease Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

anemia, iron-deficiency; hemochromatosis; inflammation Gene Set

From GAD Gene-Disease Associations

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

anemia, iron-deficiency; hemochromatosis Gene Set

From GAD Gene-Disease Associations

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

anemia, iron-deficiency; malaria Gene Set

From GAD Gene-Disease Associations

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

iron deficiency, inherited Gene Set

From GAD Gene-Disease Associations

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

anemia, iron-deficiency; polycythemia vera Gene Set

From GAD Gene-Disease Associations

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

anemia, iron-deficiency Gene Set

From GAD Gene-Disease Associations

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

anemia, iron-deficiency; avitaminosis Gene Set

From GAD Gene-Disease Associations

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

iron deficiency anemia Gene Set

From GWASdb SNP-Disease Associations

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

iron deficiency anemia Gene Set

From HPO Gene-Disease Associations

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

Anemia, Iron-Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Other Specified Iron Deficiency Anemias Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Other Specified Iron Deficiency Anemias in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chronic Iron Deficiency Anaemia Gene Set

From DisGeNET Gene-Disease Associations

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

Iron deficiency anemia Gene Set

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

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

Iron deficiency anemia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Iron deficiency anemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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.

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

choline deficiency; dna damage; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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.

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From Reactome Pathways 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.

Iron accumulation in brain Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Iron accumulation in brain phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neurodegeneration with brain iron accumulation 2b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neurodegeneration with brain iron accumulation 2b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypochromic microcytic anemia with iron overload Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypochromic microcytic anemia with iron overload phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neurodegeneration with brain iron accumulation 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neurodegeneration with brain iron accumulation 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neurodegeneration with brain iron accumulation 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neurodegeneration with brain iron accumulation 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neurodegeneration with brain iron accumulation 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neurodegeneration with brain iron accumulation 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

high-affinity iron permease complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

Iron Gene Set

From CTD Gene-Chemical Interactions

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

Iron, Dietary Gene Set

From CTD Gene-Chemical Interactions

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

iron(III)-ascorbic acid complex Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical iron(III)-ascorbic acid complex from the curated CTD Gene-Chemical Interactions dataset.

5,10,15,20-tetrakis(4-sulfonatophenyl)porphyrinato iron(III) chloride Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical 5,10,15,20-tetrakis(4-sulfonatophenyl)porphyrinato iron(III) chloride from the curated CTD Gene-Chemical Interactions dataset.

Iron Chelating Agents Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Iron Chelating Agents from the curated CTD Gene-Chemical Interactions dataset.

Iron-Dextran Complex Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Iron-Dextran Complex from the curated CTD Gene-Chemical Interactions dataset.

iron protoporphyrin IX Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical iron protoporphyrin IX from the curated CTD Gene-Chemical Interactions dataset.

iron(II)-ascorbic acid complex Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical iron(II)-ascorbic acid complex from the curated CTD Gene-Chemical Interactions dataset.

5,10,15,20-tetrakis(N-methyl-4'-pyridyl)porphyrinato-iron(III) Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical 5,10,15,20-tetrakis(N-methyl-4'-pyridyl)porphyrinato-iron(III) from the curated CTD Gene-Chemical Interactions dataset.

Iron Metabolism Disorders Gene Set

From CTD Gene-Disease Associations

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

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A from the curated CTD Gene-Disease Associations dataset.

Iron Overload Gene Set

From CTD Gene-Disease Associations

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

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B from the curated CTD Gene-Disease Associations dataset.

Anemia, Hypochromic Microcytic, With Iron Overload Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Hypochromic Microcytic, With Iron Overload from the curated CTD Gene-Disease Associations dataset.

Neurodegeneration with brain iron accumulation (NBIA) Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neurodegeneration with brain iron accumulation (NBIA) from the curated CTD Gene-Disease Associations dataset.

Iron-Regulatory Proteins Gene Set

From dbGAP Gene-Trait Associations

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

Iron Gene Set

From dbGAP Gene-Trait Associations

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

iron metabolism disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

iron metabolism disease Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores

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

iron metabolism disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

Iron Dextran Gene Set

From DrugBank Drug Targets

interacting proteins for the Iron Dextran drug from the curated DrugBank Drug Targets dataset.

carcinoma, hepatocellular; hepatitis c; iron overload; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis c; iron overload; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis c, chronic; iron overload Gene Set

From GAD Gene-Disease Associations

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

amyotrophic lateral sclerosis; iron metabolism disorders; nerve degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amyotrophic lateral sclerosis; iron metabolism disorders; nerve degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fibrosis; iron overload Gene Set

From GAD Gene-Disease Associations

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

hemochromatosis; iron overload; joint diseases Gene Set

From GAD Gene-Disease Associations

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

iron levels; soluble transferrin receptor; transferrin Gene Set

From GAD Gene-Disease Associations

genes associated with the disease iron levels; soluble transferrin receptor; transferrin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis c, chronic; iron overload; porphyria cutanea tarda Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c, chronic; iron overload; porphyria cutanea tarda in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

beta thalassemia; beta-thalassemia; hemochromatosis; iron overload; metal metabolism, inborn errors Gene Set

From GAD Gene-Disease Associations

genes associated with the disease beta thalassemia; beta-thalassemia; hemochromatosis; iron overload; metal metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

increased serum iron transferrin saturation and hemoglobin Gene Set

From GAD Gene-Disease Associations

genes associated with the disease increased serum iron transferrin saturation and hemoglobin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis c; iron overload; lcc - liver cell carcinoma; liver cirrhosis, alcoholic; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis c; iron overload; lcc - liver cell carcinoma; liver cirrhosis, alcoholic; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

beta-thalassemia; iron overload Gene Set

From GAD Gene-Disease Associations

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

alcoholic liver diseases; fatty liver; iron overload; liver cirrhosis; liver diseases, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholic liver diseases; fatty liver; iron overload; liver cirrhosis; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia; hemochromatosis; iron metabolism Gene Set

From GAD Gene-Disease Associations

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

hepatic iron and fibrosis Gene Set

From GAD Gene-Disease Associations

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

fatty liver; iron overload; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatty liver; iron overload; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatty liver; insulin resistance; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatty liver; insulin resistance; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hemochromatosis; hepatitis c, chronic; iron overload; liver diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hemochromatosis; hepatitis c, chronic; iron overload; liver diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

serum markers of iron status Gene Set

From GAD Gene-Disease Associations

genes associated with the disease serum markers of iron status in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

beta thalassemia; beta-thalassemia; cardiomyopathies; iron overload Gene Set

From GAD Gene-Disease Associations

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

iron overload; varicose ulcer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease iron overload; varicose ulcer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

iron metabolism Gene Set

From GAD Gene-Disease Associations

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

iron-regulatory proteins Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

hemochromatosis; iron overload Gene Set

From GAD Gene-Disease Associations

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

fatty liver; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatty liver; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

liver function; iron levels; ferritin; transferrin saturation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease liver function; iron levels; ferritin; transferrin saturation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholism; iron overload; liver diseases, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; iron overload; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

iron levels Gene Set

From GAD Gene-Disease Associations

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

hemochromatosis; iron overload; liver diseases Gene Set

From GAD Gene-Disease Associations

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

iron overload; myeloproliferative disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease iron overload; myeloproliferative disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

serum iron concentration Gene Set

From GAD Gene-Disease Associations

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

diabetes mellitus; hemochromatosis; iron overload Gene Set

From GAD Gene-Disease Associations

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

arthralgia; diabetes mellitus, type 2; fatigue; hemochromatosis; iron overload Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell; hemochromatosis; iron overload; sickle cell anemia Gene Set

From GAD Gene-Disease Associations

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

chromosome inversion; hemochromatosis; inversion, chromosome; iron overload; thalassemia Gene Set

From GAD Gene-Disease Associations

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

beta thalassemia; beta-thalassemia; iron overload Gene Set

From GAD Gene-Disease Associations

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

iron overload; thalassemia Gene Set

From GAD Gene-Disease Associations

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

iron Gene Set

From GAD Gene-Disease Associations

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

iron load Gene Set

From GAD Gene-Disease Associations

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

iron status and erythrocyte volume Gene Set

From GAD Gene-Disease Associations

genes associated with the disease iron status and erythrocyte volume in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

c-reactive protein; ferritin; iron Gene Set

From GAD Gene-Disease Associations

genes associated with the disease c-reactive protein; ferritin; iron in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hemochromatosis; hepatitis c, chronic; iron overload; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hemochromatosis; hepatitis c, chronic; iron overload; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

gaucher disease; iron overload; splenomegaly Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gaucher disease; iron overload; splenomegaly in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

gastrointestinal hemorrhage; hemorrhoids; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gastrointestinal hemorrhage; hemorrhoids; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

iron burden Gene Set

From GAD Gene-Disease Associations

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

iron overload Gene Set

From GAD Gene-Disease Associations

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

hemochromatosis; iron overload; pigmentation disorders Gene Set

From GAD Gene-Disease Associations

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

disease models, animal; hemochromatosis; iron overload; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease disease models, animal; hemochromatosis; iron overload; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

iron stores Gene Set

From GAD Gene-Disease Associations

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

hepatitis c; iron overload; porphyria cutanea tarda Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c; iron overload; porphyria cutanea tarda in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

anemia; hemoglobinopathies; iron overload; thalassemia Gene Set

From GAD Gene-Disease Associations

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

activated protein c resistance; hemochromatosis; iron overload; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

arthritis; diabetes complications; heart diseases; hemochromatosis; iron overload; liver diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis; diabetes complications; heart diseases; hemochromatosis; iron overload; liver diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis c, chronic; iron overload; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c, chronic; iron overload; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

iron overload; liver diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease iron overload; liver diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

iron Gene Set

From GeneRIF Biological Term Annotations

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

ferrous iron import Gene Set

From GO Biological Process Annotations 2015

genes participating in the ferrous iron import biological process from the curated GO Biological Process Annotations 2015 dataset.

sequestering of iron ion Gene Set

From GO Biological Process Annotations 2015

genes participating in the sequestering of iron ion biological process from the curated GO Biological Process Annotations 2015 dataset.

ferrous iron transport Gene Set

From GO Biological Process Annotations 2015

genes participating in the ferrous iron transport biological process from the curated GO Biological Process Annotations 2015 dataset.

cellular response to iron ion starvation Gene Set

From GO Biological Process Annotations 2015

genes participating in the cellular response to iron ion starvation biological process from the curated GO Biological Process Annotations 2015 dataset.

iron ion import Gene Set

From GO Biological Process Annotations 2015

genes participating in the iron ion import biological process from the curated GO Biological Process Annotations 2015 dataset.

iron chelate transport Gene Set

From GO Biological Process Annotations 2015

genes participating in the iron chelate transport biological process from the curated GO Biological Process Annotations 2015 dataset.

iron incorporation into metallo-sulfur cluster Gene Set

From GO Biological Process Annotations 2015

genes participating in the iron incorporation into metallo-sulfur cluster biological process from the curated GO Biological Process Annotations 2015 dataset.

cellular iron ion homeostasis Gene Set

From GO Biological Process Annotations 2015

genes participating in the cellular iron ion homeostasis biological process from the curated GO Biological Process Annotations 2015 dataset.

mitochondrial iron ion transport Gene Set

From GO Biological Process Annotations 2015

genes participating in the mitochondrial iron ion transport biological process from the curated GO Biological Process Annotations 2015 dataset.

intracellular sequestering of iron ion Gene Set

From GO Biological Process Annotations 2015

genes participating in the intracellular sequestering of iron ion biological process from the curated GO Biological Process Annotations 2015 dataset.

iron ion import into cell Gene Set

From GO Biological Process Annotations 2015

genes participating in the iron ion import into cell biological process from the curated GO Biological Process Annotations 2015 dataset.

iron assimilation Gene Set

From GO Biological Process Annotations 2015

genes participating in the iron assimilation biological process from the curated GO Biological Process Annotations 2015 dataset.

iron ion homeostasis Gene Set

From GO Biological Process Annotations 2015

genes participating in the iron ion homeostasis biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of translational initiation by iron Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of translational initiation by iron biological process from the curated GO Biological Process Annotations 2015 dataset.

ferric iron import into cell Gene Set

From GO Biological Process Annotations 2015

genes participating in the ferric iron import into cell biological process from the curated GO Biological Process Annotations 2015 dataset.

iron ion transmembrane transport Gene Set

From GO Biological Process Annotations 2015

genes participating in the iron ion transmembrane transport biological process from the curated GO Biological Process Annotations 2015 dataset.

ferric iron transport Gene Set

From GO Biological Process Annotations 2015

genes participating in the ferric iron transport biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of translational initiation by iron Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of translational initiation by iron biological process from the curated GO Biological Process Annotations 2015 dataset.

iron-sulfur cluster assembly Gene Set

From GO Biological Process Annotations 2015

genes participating in the iron-sulfur cluster assembly biological process from the curated GO Biological Process Annotations 2015 dataset.

response to iron(ii) ion Gene Set

From GO Biological Process Annotations 2015

genes participating in the response to iron(ii) ion biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of transcription from rna polymerase ii promoter in response to iron Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of transcription from rna polymerase ii promoter in response to iron biological process from the curated GO Biological Process Annotations 2015 dataset.

iron assimilation by chelation and transport Gene Set

From GO Biological Process Annotations 2015

genes participating in the iron assimilation by chelation and transport biological process from the curated GO Biological Process Annotations 2015 dataset.

multicellular organismal iron ion homeostasis Gene Set

From GO Biological Process Annotations 2015

genes participating in the multicellular organismal iron ion homeostasis biological process from the curated GO Biological Process Annotations 2015 dataset.

response to iron ion Gene Set

From GO Biological Process Annotations 2015

genes participating in the response to iron ion biological process from the curated GO Biological Process Annotations 2015 dataset.

cellular response to iron ion Gene Set

From GO Biological Process Annotations 2015

genes participating in the cellular response to iron ion biological process from the curated GO Biological Process Annotations 2015 dataset.

response to iron(iii) ion Gene Set

From GO Biological Process Annotations 2015

genes participating in the response to iron(iii) ion biological process from the curated GO Biological Process Annotations 2015 dataset.

cellular response to iron(iii) ion Gene Set

From GO Biological Process Annotations 2015

genes participating in the cellular response to iron(iii) ion biological process from the curated GO Biological Process Annotations 2015 dataset.

ferric iron import Gene Set

From GO Biological Process Annotations 2015

genes participating in the ferric iron import biological process from the curated GO Biological Process Annotations 2015 dataset.

iron ion transport Gene Set

From GO Biological Process Annotations 2015

genes participating in the iron ion transport biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of translational initiation by iron Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of translational initiation by iron biological process from the curated GO Biological Process Annotations 2015 dataset.

iron coordination entity transport Gene Set

From GO Biological Process Annotations 2015

genes participating in the iron coordination entity transport biological process from the curated GO Biological Process Annotations 2015 dataset.

oxidoreductase activity, acting on iron-sulfur proteins as donors Gene Set

From GO Molecular Function Annotations 2015

genes performing the oxidoreductase activity, acting on iron-sulfur proteins as donors molecular function from the curated GO Molecular Function Annotations 2015 dataset.

ferrous iron uptake transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the ferrous iron uptake transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced iron-sulfur protein as one donor, and incorporation of one atom of oxygen Gene Set

From GO Molecular Function Annotations 2015

genes performing the oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced iron-sulfur protein as one donor, and incorporation of one atom of oxygen molecular function from the curated GO Molecular Function Annotations 2015 dataset.

iron-cytochrome-c reductase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the iron-cytochrome-c reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

3 iron, 4 sulfur cluster binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the 3 iron, 4 sulfur cluster binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

2 iron, 2 sulfur cluster binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the 2 iron, 2 sulfur cluster binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

4 iron, 4 sulfur cluster binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the 4 iron, 4 sulfur cluster binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

iron ion transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the iron ion transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

dinitrosyl-iron complex binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the dinitrosyl-iron complex binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

oxidoreductase activity, acting on iron-sulfur proteins as donors, nad or nadp as acceptor Gene Set

From GO Molecular Function Annotations 2015

genes performing the oxidoreductase activity, acting on iron-sulfur proteins as donors, nad or nadp as acceptor molecular function from the curated GO Molecular Function Annotations 2015 dataset.

acireductone dioxygenase [iron(ii)-requiring] activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the acireductone dioxygenase [iron(ii)-requiring] activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

iron ion binding Gene Set

From GO Molecular Function Annotations 2015

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

iron-responsive element binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the iron-responsive element binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

iron-sulfur cluster binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the iron-sulfur cluster binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

ferrous iron transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the ferrous iron transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

ferric iron binding Gene Set

From GO Molecular Function Annotations 2015

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

iron chaperone activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the iron chaperone activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

ferrous iron binding Gene Set

From GO Molecular Function Annotations 2015

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

Iron status biomarkers Gene Set

From GWAS Catalog SNP-Phenotype Associations

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

Iron levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

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

Type 2 diabetes (dietary heme iron intake interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Type 2 diabetes (dietary heme iron intake interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

iron metabolism disease Gene Set

From GWASdb SNP-Disease Associations

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

abnormal serum iron Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormal serum iron phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of iron homeostasis Gene Set

From GWASdb SNP-Phenotype Associations

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

increased serum iron Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the increased serum iron phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of iron homeostasis Gene Set

From HPO Gene-Disease Associations

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

increased serum iron Gene Set

From HPO Gene-Disease Associations

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

abnormal iron deposition in mitochondria Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal iron deposition in mitochondria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal serum iron Gene Set

From HPO Gene-Disease Associations

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

Iron Metabolism Disorders Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Iron Overload Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

iron-sulfur cluster biosynthesis Gene Set

From HumanCyc Pathways

proteins participating in the iron-sulfur cluster biosynthesis pathway from the HumanCyc Pathways dataset.

Adrenodoxin, iron-sulphur binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Adrenodoxin, iron-sulphur binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Rieske iron-sulphur protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Rieske iron-sulphur protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NADH:ubiquinone oxidoreductase, iron-sulphur subunit 5 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NADH:ubiquinone oxidoreductase, iron-sulphur subunit 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tricarboxylate/iron carrier Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tricarboxylate/iron carrier protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Alcohol dehydrogenase, iron-type Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alcohol dehydrogenase, iron-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NADH dehydrogenase [ubiquinone] (complex I), iron-sulphur protein 6, mitochondria Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NADH dehydrogenase [ubiquinone] (complex I), iron-sulphur protein 6, mitochondria protein domain from the InterPro Predicted Protein Domain Annotations dataset.

4Fe-4S ferredoxin, iron-sulphur binding, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 4Fe-4S ferredoxin, iron-sulphur binding, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Rieske [2Fe-2S] iron-sulphur domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Rieske [2Fe-2S] iron-sulphur domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aromatic amino acid hydroxylase, iron/copper binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aromatic amino acid hydroxylase, iron/copper binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Manganese/iron superoxide dismutase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Manganese/iron superoxide dismutase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Iron sulphur-containing domain, CDGSH-type Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Iron sulphur-containing domain, CDGSH-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Iron regulatory protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

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

2Fe-2S ferredoxin, iron-sulphur binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 2Fe-2S ferredoxin, iron-sulphur binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NADH-ubiquinone oxidoreductase 51 kDa subunit, iron-sulphur binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NADH-ubiquinone oxidoreductase 51 kDa subunit, iron-sulphur binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Manganese/iron superoxide dismutase, binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Manganese/iron superoxide dismutase, binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

MoaA/nifB/pqqE, iron-sulphur binding, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the MoaA/nifB/pqqE, iron-sulphur binding, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Iron/zinc purple acid phosphatase-like C-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Iron/zinc purple acid phosphatase-like C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NADH:ubiquinone oxidoreductase, subunit G, iron-sulphur binding Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NADH:ubiquinone oxidoreductase, subunit G, iron-sulphur binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Endonuclease III, iron-sulphur binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Endonuclease III, iron-sulphur binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transferrin family, iron binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transferrin family, iron binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Oxoglutarate/iron-dependent dioxygenase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Oxoglutarate/iron-dependent dioxygenase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Rieske iron-sulphur protein, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Rieske iron-sulphur protein, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

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

From InterPro Predicted Protein Domain Annotations

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

Zinc/iron permease Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Zinc/iron permease protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Iron hydrogenase, small subunit-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Iron hydrogenase, small subunit-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Succinate dehydrogenase/fumarate reductase iron-sulphur protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Succinate dehydrogenase/fumarate reductase iron-sulphur protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Manganese/iron superoxide dismutase, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Manganese/iron superoxide dismutase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Iron hydrogenase, large subunit, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Iron hydrogenase, large subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Probable cytosolic iron-sulfur protein assembly protein, CIAO1/Cia1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Probable cytosolic iron-sulfur protein assembly protein, CIAO1/Cia1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Iron regulatory protein 2 Gene Set

From InterPro Predicted Protein Domain Annotations

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

Iron sulphur domain-containing, mitoNEET, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Iron sulphur domain-containing, mitoNEET, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aconitate/iron regulatory protein 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aconitate/iron regulatory protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Manganese/iron superoxide dismutase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Manganese/iron superoxide dismutase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Oxoglutarate/iron-dependent oxygenase, C-terminal degradation domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Oxoglutarate/iron-dependent oxygenase, C-terminal degradation domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lipoxygenase, iron binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lipoxygenase, iron binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Endonuclease III-like, iron-sulphur cluster loop motif Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Endonuclease III-like, iron-sulphur cluster loop motif protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Iron sulphur-containing domain, CDGSH-type, subfamily Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Iron sulphur-containing domain, CDGSH-type, subfamily protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NFU1 iron-sulfur cluster scaffold homologue Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NFU1 iron-sulfur cluster scaffold homologue protein domain from the InterPro Predicted Protein Domain Annotations dataset.

4Fe-4S ferredoxin-type, iron-sulphur binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 4Fe-4S ferredoxin-type, iron-sulphur binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Iron hydrogenase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Iron hydrogenase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

abnormal brain iron level Gene Set

From MPO Gene-Phenotype Associations

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

abnormal circulating iron level Gene Set

From MPO Gene-Phenotype Associations

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

abnormal spleen iron level Gene Set

From MPO Gene-Phenotype Associations

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

abnormal iron level Gene Set

From MPO Gene-Phenotype Associations

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

decreased spleen iron level Gene Set

From MPO Gene-Phenotype Associations

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

abnormal liver iron level Gene Set

From MPO Gene-Phenotype Associations

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

increased pancreas iron level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased pancreas iron level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased circulating iron level Gene Set

From MPO Gene-Phenotype Associations

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

abnormal heart iron level Gene Set

From MPO Gene-Phenotype Associations

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

abnormal intestinal iron level Gene Set

From MPO Gene-Phenotype Associations

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

abnormal iron homeostasis Gene Set

From MPO Gene-Phenotype Associations

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

increased circulating iron level Gene Set

From MPO Gene-Phenotype Associations

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

increased spleen iron level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased spleen iron level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal pancreas iron level Gene Set

From MPO Gene-Phenotype Associations

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

abnormal kidney iron level Gene Set

From MPO Gene-Phenotype Associations

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

decreased liver iron level Gene Set

From MPO Gene-Phenotype Associations

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

increased liver iron level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased liver iron level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased kidney iron level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased kidney iron level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

neurodegeneration with brain iron accumulation 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the neurodegeneration with brain iron accumulation 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

neurodegeneration with brain iron accumulation 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the neurodegeneration with brain iron accumulation 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

neurodegeneration with brain iron accumulation 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the neurodegeneration with brain iron accumulation 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

neurodegeneration with brain iron accumulation 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the neurodegeneration with brain iron accumulation 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

neurodegeneration with brain iron accumulation 2b Gene Set

From OMIM Gene-Disease Associations

genes associated with the neurodegeneration with brain iron accumulation 2b phenotype from the curated OMIM Gene-Disease Associations dataset.

?anemia, hypochromic microcytic, with iron overload 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?anemia, hypochromic microcytic, with iron overload 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

neurodegeneration with brain iron accululation 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the neurodegeneration with brain iron accululation 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

Mtb iron assimilation by chelation Gene Set

From Reactome Pathways 2014

proteins participating in the Mtb iron assimilation by chelation pathway from the Reactome Pathways dataset.

Iron uptake and transport Gene Set

From Reactome Pathways 2014

proteins participating in the Iron uptake and transport pathway from the Reactome Pathways dataset.

Mitochondrial iron-sulfur cluster biogenesis Gene Set

From Reactome Pathways 2014

proteins participating in the Mitochondrial iron-sulfur cluster biogenesis pathway from the Reactome Pathways dataset.

Cytosolic iron-sulfur cluster assembly Gene Set

From Reactome Pathways 2014

proteins participating in the Cytosolic iron-sulfur cluster assembly pathway from the Reactome Pathways dataset.

Iron uptake and transport(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the Iron uptake and transport(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

Iron metabolism in placenta(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the Iron metabolism in placenta(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

Iron Homeostasis(Mus musculus) Gene Set

From WikiPathways Pathways 2014

proteins participating in the Iron Homeostasis(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset.

Iron Overload Gene Set

From DisGeNET Gene-Disease Associations

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

Chronic Iron Overload Gene Set

From DisGeNET Gene-Disease Associations

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

Iron Overload, Autosomal Dominant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Iron Overload, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cardiac Iron Overload Gene Set

From DisGeNET Gene-Disease Associations

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

Iron Loading Anemia Gene Set

From DisGeNET Gene-Disease Associations

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

Anemia, Hypochromic Microcytic, With Iron Overload 1 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Anemia, Hypochromic Microcytic, With Iron Overload 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Anemia, Hypochromic Microcytic, With Iron Overload 2 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Anemia, Hypochromic Microcytic, With Iron Overload 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Iron Level Result Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Iron Level Result in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Iron Measurement Gene Set

From DisGeNET Gene-Phenotype Associations

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

Abnormality Of Iron Homeostasis Gene Set

From DisGeNET Gene-Phenotype Associations

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

Elevated Hepatic Iron Concentration Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Elevated Hepatic Iron Concentration in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Serum Iron Raised Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Serum Iron Raised in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Serum Iron Low (Finding) Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Serum Iron Low (Finding) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Iron Binding Capacity Total Measurement Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Iron Binding Capacity Total Measurement in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Serum Iron Measurement Gene Set

From DisGeNET Gene-Phenotype Associations

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

Total Iron Binding Capacity Function Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Total Iron Binding Capacity Function in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Iron Accumulation Gene Set

From DisGeNET Gene-Phenotype Associations

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

Genetic Hyperferritinemia Without Iron Overload Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Genetic Hyperferritinemia Without Iron Overload in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Abnormal Iron Deposition In Mitochondria Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Abnormal Iron Deposition In Mitochondria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Increased Total Iron Binding Capacity Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Increased Total Iron Binding Capacity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

iron-sulfur cluster assembly Gene Set

From GO Biological Process Annotations 2023

genes participating in the iron-sulfur cluster assembly biological process from the curated GO Biological Process Annotations 2023 dataset.

intracellular iron ion homeostasis Gene Set

From GO Biological Process Annotations 2023

genes participating in the intracellular iron ion homeostasis biological process from the curated GO Biological Process Annotations 2023 dataset.

iron ion transmembrane transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the iron ion transmembrane transport biological process from the curated GO Biological Process Annotations 2023 dataset.

iron-sulfur cluster export from the mitochondrion Gene Set

From GO Biological Process Annotations 2023

genes participating in the iron-sulfur cluster export from the mitochondrion biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of iron-sulfur cluster assembly Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of iron-sulfur cluster assembly biological process from the curated GO Biological Process Annotations 2023 dataset.

protein maturation by iron-sulfur cluster transfer Gene Set

From GO Biological Process Annotations 2023

genes participating in the protein maturation by iron-sulfur cluster transfer biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of iron ion import across plasma membrane Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of iron ion import across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset.

iron ion transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the iron ion transport biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of iron ion transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of iron ion transport biological process from the curated GO Biological Process Annotations 2023 dataset.

cellular response to iron ion Gene Set

From GO Biological Process Annotations 2023

genes participating in the cellular response to iron ion biological process from the curated GO Biological Process Annotations 2023 dataset.

multicellular organismal-level iron ion homeostasis Gene Set

From GO Biological Process Annotations 2023

genes participating in the multicellular organismal-level iron ion homeostasis biological process from the curated GO Biological Process Annotations 2023 dataset.

response to iron ion Gene Set

From GO Biological Process Annotations 2023

genes participating in the response to iron ion biological process from the curated GO Biological Process Annotations 2023 dataset.

response to iron(II) ion Gene Set

From GO Biological Process Annotations 2023

genes participating in the response to iron(II) ion biological process from the curated GO Biological Process Annotations 2023 dataset.

intracellular sequestering of iron ion Gene Set

From GO Biological Process Annotations 2023

genes participating in the intracellular sequestering of iron ion biological process from the curated GO Biological Process Annotations 2023 dataset.

iron import into cell Gene Set

From GO Biological Process Annotations 2023

genes participating in the iron import into cell biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of ferrous iron binding Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of ferrous iron binding biological process from the curated GO Biological Process Annotations 2023 dataset.

iron incorporation into metallo-sulfur cluster Gene Set

From GO Biological Process Annotations 2023

genes participating in the iron incorporation into metallo-sulfur cluster biological process from the curated GO Biological Process Annotations 2023 dataset.

reductive iron assimilation Gene Set

From GO Biological Process Annotations 2023

genes participating in the reductive iron assimilation biological process from the curated GO Biological Process Annotations 2023 dataset.

negative regulation of translational initiation by iron Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of translational initiation by iron biological process from the curated GO Biological Process Annotations 2023 dataset.

response to iron ion starvation Gene Set

From GO Biological Process Annotations 2023

genes participating in the response to iron ion starvation biological process from the curated GO Biological Process Annotations 2023 dataset.

iron ion import across plasma membrane Gene Set

From GO Biological Process Annotations 2023

genes participating in the iron ion import across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset.

negative regulation of iron ion import across plasma membrane Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of iron ion import across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset.

iron ion export across plasma membrane Gene Set

From GO Biological Process Annotations 2023

genes participating in the iron ion export across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset.

iron import into the mitochondrion Gene Set

From GO Biological Process Annotations 2023

genes participating in the iron import into the mitochondrion biological process from the curated GO Biological Process Annotations 2023 dataset.

endocytic iron import into cell Gene Set

From GO Biological Process Annotations 2023

genes participating in the endocytic iron import into cell biological process from the curated GO Biological Process Annotations 2023 dataset.

iron-sulfur cluster transmembrane transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the iron-sulfur cluster transmembrane transport biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of iron-sulfur cluster assembly Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of iron-sulfur cluster assembly biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of iron ion transmembrane transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of iron ion transmembrane transport biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of iron ion import across plasma membrane Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of iron ion import across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of ferrous iron binding Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of ferrous iron binding biological process from the curated GO Biological Process Annotations 2023 dataset.

iron coordination entity transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the iron coordination entity transport biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of translational initiation by iron Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of translational initiation by iron biological process from the curated GO Biological Process Annotations 2023 dataset.

negative regulation of iron ion transmembrane transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of iron ion transmembrane transport biological process from the curated GO Biological Process Annotations 2023 dataset.

iron ion binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the iron ion binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

ferrous iron binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the ferrous iron binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

ABC-type iron-sulfur cluster transporter activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the ABC-type iron-sulfur cluster transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

2 iron, 2 sulfur cluster binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the 2 iron, 2 sulfur cluster binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

iron-responsive element binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the iron-responsive element binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

3 iron, 4 sulfur cluster binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the 3 iron, 4 sulfur cluster binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

4 iron, 4 sulfur cluster binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the 4 iron, 4 sulfur cluster binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

iron ion transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the iron ion transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

ferrous iron transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the ferrous iron transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

oxidoreductase activity, acting on iron-sulfur proteins as donors, NAD or NADP as acceptor Gene Set

From GO Molecular Function Annotations 2023

genes performing the oxidoreductase activity, acting on iron-sulfur proteins as donors, NAD or NADP as acceptor molecular function from the curated GO Molecular Function Annotations 2023 dataset.

acireductone dioxygenase [iron(II)-requiring] activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the acireductone dioxygenase [iron(II)-requiring] activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced iron-sulfur protein as one donor, and incorporation of one atom of oxygen Gene Set

From GO Molecular Function Annotations 2023

genes performing the oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced iron-sulfur protein as one donor, and incorporation of one atom of oxygen molecular function from the curated GO Molecular Function Annotations 2023 dataset.

abnormal iron level Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal iron homeostasis Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal iron homeostasis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased liver iron level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased liver iron level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased spleen iron level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased spleen iron level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased circulating iron level Gene Set

From MGI Mouse Phenotype Associations 2023

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

increased liver iron level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased liver iron level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased kidney iron level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased kidney iron level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased spleen iron level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased spleen iron level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased circulating iron level Gene Set

From MGI Mouse Phenotype Associations 2023

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

increased intestinal iron level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased intestinal iron level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal brain iron level Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal circulating iron level Gene Set

From MGI Mouse Phenotype Associations 2023

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

increased brain iron level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased brain iron level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased pancreas iron level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased pancreas iron level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased heart iron level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased heart iron level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal liver iron level Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal kidney iron level Gene Set

From MGI Mouse Phenotype Associations 2023

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

decreased pancreas iron level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased pancreas iron level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased heart iron level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased heart iron level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased intestinal iron level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased intestinal iron level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased brain iron level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased brain iron level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased circulating iron level Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the decreased circulating iron level phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

increased circulating iron level Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the increased circulating iron level phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

abnormal circulating iron level Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the abnormal circulating iron level phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

Iron metabolism in placenta Gene Set

From WikiPathways Pathways 2024

proteins participating in the Iron metabolism in placenta pathway from the WikiPathways Pathways 2024 dataset.

Neurodegeneration with brain iron accumulation NBIA subtypes pathway Gene Set

From WikiPathways Pathways 2024

proteins participating in the Neurodegeneration with brain iron accumulation NBIA subtypes pathway pathway from the WikiPathways Pathways 2024 dataset.

Iron sulfur cluster biogenesis Gene Set

From WikiPathways Pathways 2024

proteins participating in the Iron sulfur cluster biogenesis pathway from the WikiPathways Pathways 2024 dataset.

Iron metabolism disorders Gene Set

From WikiPathways Pathways 2024

proteins participating in the Iron metabolism disorders pathway from the WikiPathways Pathways 2024 dataset.

Cytosolic iron-sulfur cluster assembly Gene Set

From Reactome Pathways 2024

proteins participating in the Cytosolic iron-sulfur cluster assembly pathway from the Reactome Pathways 2024 dataset.

Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1) Gene Set

From Reactome Pathways 2024

proteins participating in the Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1) pathway from the Reactome Pathways 2024 dataset.

Iron uptake and transport Gene Set

From Reactome Pathways 2024

proteins participating in the Iron uptake and transport pathway from the Reactome Pathways 2024 dataset.

Mitochondrial iron-sulfur cluster biogenesis Gene Set

From Reactome Pathways 2024

proteins participating in the Mitochondrial iron-sulfur cluster biogenesis pathway from the Reactome Pathways 2024 dataset.

Mtb iron assimilation by chelation Gene Set

From Reactome Pathways 2024

proteins participating in the Mtb iron assimilation by chelation pathway from the Reactome Pathways 2024 dataset.

iron-sulfur cluster assembly Gene Set

From GO Biological Process Annotations 2025

genes participating in the iron-sulfur cluster assembly biological process from the curated GO Biological Process Annotations 2025 dataset.

intracellular iron ion homeostasis Gene Set

From GO Biological Process Annotations 2025

genes participating in the intracellular iron ion homeostasis biological process from the curated GO Biological Process Annotations 2025 dataset.

iron ion transmembrane transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the iron ion transmembrane transport biological process from the curated GO Biological Process Annotations 2025 dataset.

iron-sulfur cluster export from the mitochondrion Gene Set

From GO Biological Process Annotations 2025

genes participating in the iron-sulfur cluster export from the mitochondrion biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of iron-sulfur cluster assembly Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of iron-sulfur cluster assembly biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of iron ion import across plasma membrane Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of iron ion import across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset.

iron ion transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the iron ion transport biological process from the curated GO Biological Process Annotations 2025 dataset.

multicellular organismal-level iron ion homeostasis Gene Set

From GO Biological Process Annotations 2025

genes participating in the multicellular organismal-level iron ion homeostasis biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of iron ion transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of iron ion transport biological process from the curated GO Biological Process Annotations 2025 dataset.

cellular response to iron ion Gene Set

From GO Biological Process Annotations 2025

genes participating in the cellular response to iron ion biological process from the curated GO Biological Process Annotations 2025 dataset.

response to iron ion Gene Set

From GO Biological Process Annotations 2025

genes participating in the response to iron ion biological process from the curated GO Biological Process Annotations 2025 dataset.

response to iron(II) ion Gene Set

From GO Biological Process Annotations 2025

genes participating in the response to iron(II) ion biological process from the curated GO Biological Process Annotations 2025 dataset.

iron import into cell Gene Set

From GO Biological Process Annotations 2025

genes participating in the iron import into cell biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of ferrous iron binding Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of ferrous iron binding biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of iron export across plasma membrane Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of iron export across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset.

response to iron ion starvation Gene Set

From GO Biological Process Annotations 2025

genes participating in the response to iron ion starvation biological process from the curated GO Biological Process Annotations 2025 dataset.

iron incorporation into metallo-sulfur cluster Gene Set

From GO Biological Process Annotations 2025

genes participating in the iron incorporation into metallo-sulfur cluster biological process from the curated GO Biological Process Annotations 2025 dataset.

reductive iron assimilation Gene Set

From GO Biological Process Annotations 2025

genes participating in the reductive iron assimilation biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of translational initiation by iron Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of translational initiation by iron biological process from the curated GO Biological Process Annotations 2025 dataset.

intestinal iron absorption Gene Set

From GO Biological Process Annotations 2025

genes participating in the intestinal iron absorption biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of iron export across plasma membrane Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of iron export across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset.

iron ion import across plasma membrane Gene Set

From GO Biological Process Annotations 2025

genes participating in the iron ion import across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of iron ion import across plasma membrane Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of iron ion import across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset.

iron ion export across plasma membrane Gene Set

From GO Biological Process Annotations 2025

genes participating in the iron ion export across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset.

iron import into the mitochondrion Gene Set

From GO Biological Process Annotations 2025

genes participating in the iron import into the mitochondrion biological process from the curated GO Biological Process Annotations 2025 dataset.

endocytic iron import into cell Gene Set

From GO Biological Process Annotations 2025

genes participating in the endocytic iron import into cell biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of iron ion transmembrane transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of iron ion transmembrane transport biological process from the curated GO Biological Process Annotations 2025 dataset.

iron-sulfur cluster transmembrane transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the iron-sulfur cluster transmembrane transport biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of iron-sulfur cluster assembly Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of iron-sulfur cluster assembly biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of iron ion transmembrane transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of iron ion transmembrane transport biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of iron ion import across plasma membrane Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of iron ion import across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset.

iron coordination entity transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the iron coordination entity transport biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of iron export across plasma membrane Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of iron export across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of translational initiation by iron Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of translational initiation by iron biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of iron ion transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of iron ion transport biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of iron ion transmembrane transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of iron ion transmembrane transport biological process from the curated GO Biological Process Annotations 2025 dataset.

iron ion binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the iron ion binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

ferrous iron binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the ferrous iron binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

ABC-type iron-sulfur cluster transporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the ABC-type iron-sulfur cluster transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

dinitrosyl-iron complex binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the dinitrosyl-iron complex binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

2 iron, 2 sulfur cluster binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the 2 iron, 2 sulfur cluster binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

ferric iron binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the ferric iron binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

iron-responsive element binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the iron-responsive element binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

iron-sulfur cluster binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the iron-sulfur cluster binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

3 iron, 4 sulfur cluster binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the 3 iron, 4 sulfur cluster binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

4 iron, 4 sulfur cluster binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the 4 iron, 4 sulfur cluster binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

iron ion transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the iron ion transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

ferrous iron transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the ferrous iron transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

iron ion transmembrane transporter inhibitor activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the iron ion transmembrane transporter inhibitor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

oxidoreductase activity, acting on iron-sulfur proteins as donors, NAD or NADP as acceptor Gene Set

From GO Molecular Function Annotations 2025

genes performing the oxidoreductase activity, acting on iron-sulfur proteins as donors, NAD or NADP as acceptor molecular function from the curated GO Molecular Function Annotations 2025 dataset.

acireductone dioxygenase [iron(II)-requiring] activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the acireductone dioxygenase [iron(II)-requiring] activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced iron-sulfur protein as one donor, and incorporation of one atom of oxygen Gene Set

From GO Molecular Function Annotations 2025

genes performing the oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced iron-sulfur protein as one donor, and incorporation of one atom of oxygen molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Neurodegeneration with brain iron accumulation 4 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Neurodegeneration with brain iron accumulation 4 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Neurodegeneration with brain iron accumulation Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Neurodegeneration with brain iron accumulation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Neurodegeneration with brain iron accumulation 2b Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Neurodegeneration with brain iron accumulation 2b from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Neurodegeneration with brain iron accumulation 5 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Neurodegeneration with brain iron accumulation 5 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

African iron overload Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease African iron overload from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Neurodegeneration with brain iron accumulation 3 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Neurodegeneration with brain iron accumulation 3 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Iron metabolism disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Iron metabolism disease Gene Set

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

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

Neurodegeneration with brain iron accumulation 4 Gene Set

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

genes co-occuring with the disease Neurodegeneration with brain iron accumulation 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neurodegeneration with brain iron accumulation 5 Gene Set

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

genes co-occuring with the disease Neurodegeneration with brain iron accumulation 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neurodegeneration with brain iron accumulation Gene Set

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

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

Neurodegeneration with brain iron accumulation 2a Gene Set

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

genes co-occuring with the disease Neurodegeneration with brain iron accumulation 2a in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neurodegeneration with brain iron accumulation 3 Gene Set

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

genes co-occuring with the disease Neurodegeneration with brain iron accumulation 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neurodegeneration with brain iron accumulation 2b Gene Set

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

genes co-occuring with the disease Neurodegeneration with brain iron accumulation 2b in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

African iron overload Gene Set

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

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

Neurodegeneration with brain iron accumulation 6 Gene Set

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

genes co-occuring with the disease Neurodegeneration with brain iron accumulation 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Mitochondrial iron-sulfur cluster assembly complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Mitochondrial iron-sulfur cluster assembly complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

iron-sulfur cluster assembly complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the iron-sulfur cluster assembly complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

iron-sulfur cluster assembly complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the iron-sulfur cluster assembly complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

iron-sulfur cluster transfer complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the iron-sulfur cluster transfer complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Mitochondrial iron-sulfur cluster assembly complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Mitochondrial iron-sulfur cluster assembly complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

vanadium-iron nitrogenase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

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

high-affinity iron permease complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the high-affinity iron permease complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Iron accumulation in brain Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Iron accumulation in brain phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Iron Overload Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Iron Overload phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neurotransmitter Regulation and Iron Homeostasis Gene Set

From CM4AI U2OS Cell Map Protein Localization Assemblies

proteins comprising Neurotransmitter Regulation and Iron Homeostasis assembly using integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.

Iron status biomarkers (transferrin saturation) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Iron status biomarkers (transferrin saturation) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Iron status biomarkers (ferritin levels) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Iron status biomarkers (ferritin levels) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Iron status biomarkers Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Iron status biomarkers phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Iron status biomarkers (transferrin levels) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Iron status biomarkers (transferrin levels) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Iron levels Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

Type 2 diabetes (dietary heme iron intake interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Type 2 diabetes (dietary heme iron intake interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Liver iron content Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

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

IRON CARBONYL Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the IRON CARBONYL drug from theDGIdb Drug Targets 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.

Bifunctional peroxisomal enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

X-linked ichthyosis with steryl-sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Phosphoglycerate dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Galactosylceramide beta-galactosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Isolated 17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Endplate acetylcholinesterase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Sepiapterin reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Methionine adenosyltransferase deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase E2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of ribose-5-phosphate isomerase Gene Set

From ClinVar Gene-Phenotype Associations

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

Kininogen deficiency, total Gene Set

From ClinVar Gene-Phenotype Associations

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

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 9 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

N-terminal acetyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement component 7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Creatine deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

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

Birbeck granule deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glucocorticoid deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Glucocorticoid deficiency 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

SCID due to ADA deficiency, delayed onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Properdin deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

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

PROPERDIN DEFICIENCY, TYPE II Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement factor d deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Methylmalonyl-CoA epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement component 8 deficiency type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Testosterone 17-beta-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Deficiency of 2-methylbutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of isobutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

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

Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Cerebral folate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Phosphoserine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Carnitine acylcarnitine translocase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Succinyl-CoA acetoacetate transferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Carnitine palmitoyltransferase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Platelet-activating factor acetylhydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Gene Set

From ClinVar Gene-Phenotype Associations

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

Lipase deficiency combined Gene Set

From ClinVar Gene-Phenotype Associations

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

5-Oxoprolinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glucocorticoid deficiency with achalasia Gene Set

From ClinVar Gene-Phenotype Associations

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

Proopiomelanocortin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined Gene Set

From ClinVar Gene-Phenotype Associations

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

Intrinsic factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

21-hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glutaryl-CoA oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Corticosterone methyloxidase type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Thiopurine methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene Set

From ClinVar Gene-Phenotype Associations

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

Carnitine palmitoyltransferase II deficiency, infantile Gene Set

From ClinVar Gene-Phenotype Associations

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

Lactate dehydrogenase b deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 18 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 17 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 16 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 14 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 13 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 12 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 11 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 10 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of 3-hydroxyacyl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

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

Plasminogen deficiency, type I Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Molybdenum cofactor deficiency, complementation group C Gene Set

From ClinVar Gene-Phenotype Associations

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

Molybdenum cofactor deficiency, complementation group B Gene Set

From ClinVar Gene-Phenotype Associations

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

Molybdenum cofactor deficiency, complementation group A Gene Set

From ClinVar Gene-Phenotype Associations

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

Biotinidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal dominant isolated somatotropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypohidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of phosphoserine phosphatase Gene Set

From ClinVar Gene-Phenotype Associations

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

Isolated growth hormone deficiency type 1B Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of butyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

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

Anhidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

3 Methylcrotonyl-CoA carboxylase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of hyaluronoglucosaminidase Gene Set

From ClinVar Gene-Phenotype Associations

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

Sulfite oxidase deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

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

Plasminogen activator inhibitor type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 22 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 20 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 21 Gene Set

From ClinVar Gene-Phenotype Associations

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

Monoamine oxidase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Factor V deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Adenine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Glutamate formiminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypoglycemia with deficiency of glycogen synthetase in the liver Gene Set

From ClinVar Gene-Phenotype Associations

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

LEUKOCYTE ADHESION DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

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

Follicle-stimulating hormone deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

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

Ganglioside sialidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

C1q deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Interferon gamma receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Platelet glycoprotein IV deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

N-acetylaspartate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Adenylosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Triosephosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Gaucher disease, atypical, due to saposin C deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Aromatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary factor II deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Factor xiii, a subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex III deficiency, nuclear type 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex III deficiency, nuclear type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Multiple sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Corticosteroid-binding globulin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 15 Gene Set

From ClinVar Gene-Phenotype Associations

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

Corticosterone methyloxidase type 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement component 9 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Holocarboxylase synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

2,4-Dienoyl-CoA reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of glycerate kinase Gene Set

From ClinVar Gene-Phenotype Associations

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

Ataxia with vitamin E deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of galactokinase Gene Set

From ClinVar Gene-Phenotype Associations

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

ACTH deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

PROPERDIN DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

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

Carboxylesterase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Purine-nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Neonatal intrahepatic cholestasis caused by citrin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement component 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Antithrombin III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Inosine triphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Growth hormone deficiency with pituitary anomalies Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Ulna and fibula absence of with severe limb deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Homocysteinemia due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of pyrroline-5-carboxylate reductase Gene Set

From ClinVar Gene-Phenotype Associations

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

Immunodeficiency due to ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Sarcosine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Branched-chain ketoacid dehydrogenase kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

L-ferritin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Medium-chain acyl-coenzyme A dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Arginase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hepatic lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Factor X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase E3-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary factor IX deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

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

Alpha-fetoprotein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypermethioninemia due to adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Deficiency of iodide peroxidase Gene Set

From ClinVar Gene-Phenotype Associations

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

Glycosylphosphatidylinositol deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Leukocyte adhesion deficiency type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital lactase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Caspase-8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Phosphoglycerate kinase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Anaphylotoxin inactivator deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Cytochrome-c oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Enterokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency, primary, 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency, primary, 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency, primary, 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency, primary, 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Erythrocyte amp deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Factor VII deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Apolipoprotein a-i deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Gamma-aminobutyric acid transaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Myeloperoxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial phosphate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary factor XI deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

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

Porphobilinogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Very long chain acyl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

IRAK4 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Leukocyte adhesion deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Cortisone reductase deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Arginine:glycine amidinotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Methionine adenosyltransferase deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Muscle AMP deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Dihydropyrimidinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Dimethylglycine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of hydroxymethylglutaryl-CoA lyase Gene Set

From ClinVar Gene-Phenotype Associations

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

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase E1-alpha deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Isovaleryl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Cd59 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Ornithine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Sphingolipid activator protein 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of ferroxidase Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Deficiency of steroid 11-beta-monooxygenase Gene Set

From ClinVar Gene-Phenotype Associations

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

Lysosomal acid lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Dopamine beta hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Butyrylcholinesterase deficiency, fluoride-resistant, japanese type Gene Set

From ClinVar Gene-Phenotype Associations

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

UDPglucose-4-epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Homocystinuria due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of alpha-mannosidase Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Insulin-like growth factor I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Leigh syndrome due to mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Pyruvate carboxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Gluthathione synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Fumarase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of transaldolase Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial pyruvate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase E1-beta deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

MASP2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Argininosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Prekallikrein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Chitotriosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Anti-plasmin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Prothrombin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial trifunctional protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

GTP cyclohydrolase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of malonyl-CoA decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

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

3 beta-Hydroxysteroid dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Succinate-semialdehyde dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

X-linked agammaglobulinemia with growth hormone deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Okt4 epitope deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of acetyl-CoA acetyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Mineralocorticoid deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement 1s deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Dihydropteridine reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Mannose-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glucose transporter type 1 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Myd88 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Cd8 deficiency, familial Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Acid-labile subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Fructose-biphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement factor B deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Obesity, severe, due to leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Beta-hydroxyisobutyryl-CoA deacylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary factor VIII deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

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

Proline dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Factor H deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glutamine deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Glycine N-methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Ornithine carbamoyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Sucrase-isomaltase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Cholesterol monooxygenase (side-chain cleaving) deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Fucosyltransferase 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Asparagine synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Adenylate kinase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined, 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined, 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of butyrylcholine esterase Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of glycerol kinase Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of xanthine oxidase Gene Set

From ClinVar Gene-Phenotype Associations

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

Urocanate hydratase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

4-Hydroxyphenylpyruvate dioxygenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Factor xiii, b subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

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

Growth deficiency and mental retardation with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Combined deficiency of sialidase AND beta galactosidase Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Prolidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of beta-ureidopropionase Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of guanidinoacetate methyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

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

MYD88 Deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Gene Set

From CTD Gene-Disease Associations

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

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

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

Platelet Glycoprotein IV Deficiency Gene Set

From CTD Gene-Disease Associations

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

Mitochondrial Phosphate Carrier Deficiency Gene Set

From CTD Gene-Disease Associations

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

Leukocyte Adhesion Deficiency, Type III Gene Set

From CTD Gene-Disease Associations

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

Prekallikrein Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylenetetrahydrofolate reductase deficiency Gene Set

From CTD Gene-Disease Associations

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

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor XI Deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine palmitoyl transferase 1A deficiency Gene Set

From CTD Gene-Disease Associations

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

Preaxial deficiency, postaxial polydactyly and hypospadias Gene Set

From CTD Gene-Disease Associations

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

THYROTROPIN-RELEASING HORMONE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

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

Carbamoyl-Phosphate Synthase I Deficiency Disease Gene Set

From CTD Gene-Disease Associations

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

Tyrosine Kinase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

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

Properdin deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

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

COENZYME Q10 DEFICIENCY, PRIMARY, 1 Gene Set

From CTD Gene-Disease Associations

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

Glutathione synthetase deficiency Gene Set

From CTD Gene-Disease Associations

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

Glucocorticoid Deficiency 2 Gene Set

From CTD Gene-Disease Associations

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

Aniridia cerebellar ataxia mental deficiency Gene Set

From CTD Gene-Disease Associations

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

Combined Oxidative Phosphorylation Deficiency 3 Gene Set

From CTD Gene-Disease Associations

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

Proopiomelanocortin Deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Glucocorticoid Deficiency 3 Gene Set

From CTD Gene-Disease Associations

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

Intrinsic Factor Deficiency Gene Set

From CTD Gene-Disease Associations

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

Adenosine monophosphate deaminase deficiency Gene Set

From CTD Gene-Disease Associations

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

alpha 1-Antitrypsin Deficiency Gene Set

From CTD Gene-Disease Associations

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

Combined Oxidative Phosphorylation Deficiency 2 Gene Set

From CTD Gene-Disease Associations

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

Plasminogen Deficiency, Type I Gene Set

From CTD Gene-Disease Associations

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

IgA Deficiency Gene Set

From CTD Gene-Disease Associations

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

Lipase deficiency combined Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

DNA Repair-Deficiency Disorders Gene Set

From CTD Gene-Disease Associations

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

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

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

Enterokinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine Palmitoyltransferase II Deficiency, Late-Onset Gene Set

From CTD Gene-Disease Associations

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

Lactase Deficiency, Congenital Gene Set

From CTD Gene-Disease Associations

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

Lecithin Acyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Interleukin 2 Receptor, Alpha, Deficiency of Gene Set

From CTD Gene-Disease Associations

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

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From CTD Gene-Disease Associations

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

Beta ketothiolase deficiency Gene Set

From CTD Gene-Disease Associations

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

Transaldolase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Anti-plasmin deficiency, congenital Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

CD8 Deficiency, Familial Gene Set

From CTD Gene-Disease Associations

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

Neuraminidase 1 deficiency Gene Set

From CTD Gene-Disease Associations

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

Folic Acid Deficiency Gene Set

From CTD Gene-Disease Associations

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

Lysosomal acid lipase deficiency Gene Set

From CTD Gene-Disease Associations

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

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From CTD Gene-Disease Associations

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

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.

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

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

Multiple Acyl Coenzyme A Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene Set

From CTD Gene-Disease Associations

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

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 Gene Set

From CTD Gene-Disease Associations

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

Plasminogen Activator Inhibitor-1 Deficiency Gene Set

From CTD Gene-Disease Associations

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

Pyruvate Dehydrogenase E2 Deficiency Gene Set

From CTD Gene-Disease Associations

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

Phosphoglycerate Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set

From CTD Gene-Disease Associations

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

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.

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

From CTD Gene-Disease Associations

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

Holocarboxylase Synthetase Deficiency Gene Set

From CTD Gene-Disease Associations

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

N-acetyl glutamate synthetase deficiency Gene Set

From CTD Gene-Disease Associations

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

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.

Dimethylglycine Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Pituitary Hormone Deficiency, Combined, 1 Gene Set

From CTD Gene-Disease Associations

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

Pituitary Hormone Deficiency, Combined, 2 Gene Set

From CTD Gene-Disease Associations

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

Trehalase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Guanidinoacetate methyltransferase deficiency Gene Set

From CTD Gene-Disease Associations

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

Aminoacylase 1 deficiency Gene Set

From CTD Gene-Disease Associations

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

Antithrombin III Deficiency Gene Set

From CTD Gene-Disease Associations

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

Phosphoenolpyruvate carboxykinase deficiency Gene Set

From CTD Gene-Disease Associations

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

17-Hydroxysteroid Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Heparin Cofactor II Deficiency Gene Set

From CTD Gene-Disease Associations

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

Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency Gene Set

From CTD Gene-Disease Associations

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

D-BIFUNCTIONAL PROTEIN DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease D-BIFUNCTIONAL PROTEIN DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.

Arginine:Glycine Amidinotransferase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Biotinidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

COMPLEMENT COMPONENT C1r/C1s DEFICIENCY Gene Set

From CTD Gene-Disease Associations

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

Methionine Adenosyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Phosphoenolpyruvate carboxykinase 2 deficiency Gene Set

From CTD Gene-Disease Associations

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

Glycine N-Methyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Magnesium Deficiency Gene Set

From CTD Gene-Disease Associations

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

2-Methylbutyryl-CoA Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Glycosylphosphatidylinositol deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor Xiii, A Subunit, Deficiency Of Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Leukocyte adhesion deficiency type 1 Gene Set

From CTD Gene-Disease Associations

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

Isobutyryl-CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

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

Dihydropyrimidine Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Corticosteroid-Binding Globulin Deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

ACTH Deficiency, Isolated Gene Set

From CTD Gene-Disease Associations

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

Factor XIII, B Subunit, Deficiency Of Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

GLUT1 DEFICIENCY SYNDROME 2 Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Specific Granule Deficiency Gene Set

From CTD Gene-Disease Associations

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

Insulin-Like Growth Factor I Deficiency Gene Set

From CTD Gene-Disease Associations

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

Complement component 5 deficiency Gene Set

From CTD Gene-Disease Associations

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

Complement Component 7 Deficiency Gene Set

From CTD Gene-Disease Associations

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

Lactate dehydrogenase deficiency type A Gene Set

From CTD Gene-Disease Associations

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

Pyruvate Dehydrogenase E3-Binding Protein Deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Cortisone reductase deficiency Gene Set

From CTD Gene-Disease Associations

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

Peroxisomal ACYL-COA oxidase deficiency Gene Set

From CTD Gene-Disease Associations

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

NADH cytochrome B5 reductase deficiency Gene Set

From CTD Gene-Disease Associations

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

3b-Hydroxysteroid Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Thiamine Deficiency Gene Set

From CTD Gene-Disease Associations

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

Mitochondrial Complex II Deficiency Gene Set

From CTD Gene-Disease Associations

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

Sucrase-isomaltase deficiency, congenital Gene Set

From CTD Gene-Disease Associations

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

Systemic carnitine deficiency Gene Set

From CTD Gene-Disease Associations

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

Gamma-cystathionase deficiency Gene Set

From CTD Gene-Disease Associations

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

Pituitary Hormone Deficiency, Combined, 4 Gene Set

From CTD Gene-Disease Associations

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

Combined Saposin Deficiency Gene Set

From CTD Gene-Disease Associations

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

Radial Ray Deficiency, X-Linked Gene Set

From CTD Gene-Disease Associations

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

Beta-Ureidopropionase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Combined Oxidative Phosphorylation Deficiency 1 Gene Set

From CTD Gene-Disease Associations

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

Combined Oxidative Phosphorylation Deficiency 5 Gene Set

From CTD Gene-Disease Associations

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

Combined Oxidative Phosphorylation Deficiency 4 Gene Set

From CTD Gene-Disease Associations

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

Protein C Deficiency Gene Set

From CTD Gene-Disease Associations

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

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

succinic semialdehyde dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

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

Carboxypeptidase N Deficiency Gene Set

From CTD Gene-Disease Associations

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

Purine Nucleoside Phosphorylase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Complement Component 4, Partial Deficiency Of Gene Set

From CTD Gene-Disease Associations

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

Familial Glucocorticoid Deficiency 1 Gene Set

From CTD Gene-Disease Associations

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

Endplate Acetylcholinesterase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor XIII Deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

Fructose-1,6-Diphosphatase Deficiency Gene Set

From CTD Gene-Disease Associations

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

MASP2 Deficiency Gene Set

From CTD Gene-Disease Associations

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

2,4-Dienoyl-CoA Reductase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Alpha-ketoglutarate dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

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

Complement Factor H Deficiency Gene Set

From CTD Gene-Disease Associations

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

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.

COMPLEMENT COMPONENT 2 DEFICIENCY Gene Set

From CTD Gene-Disease Associations

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

TRANSCOBALAMIN II DEFICIENCY Gene Set

From CTD Gene-Disease Associations

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

Prolidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Leukocyte-Adhesion Deficiency Syndrome Gene Set

From CTD Gene-Disease Associations

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

Dihydropyrimidinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Deficiency Diseases Gene Set

From CTD Gene-Disease Associations

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

BISPHOSPHOGLYCERATE MUTASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

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

Vitamin E Deficiency Gene Set

From CTD Gene-Disease Associations

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

PROTHROMBIN DEFICIENCY, CONGENITAL Gene Set

From CTD Gene-Disease Associations

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

Carnitine Palmitoyltransferase II Deficiency, Infantile Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

CD59 Deficiency Gene Set

From CTD Gene-Disease Associations

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

Myeloperoxidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylmalonyl-CoA Epimerase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Mevalonate Kinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Complement Factor I Deficiency Gene Set

From CTD Gene-Disease Associations

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

Beta-Hydroxyisobutyryl CoA Deacylase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Cytochrome-c Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Hyaluronidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

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

3-methylcrotonyl CoA carboxylase 1 deficiency Gene Set

From CTD Gene-Disease Associations

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

Multiple Sulfatase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

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

Lysosomal beta-mannosidase deficiency Gene Set

From CTD Gene-Disease Associations

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

Medium chain acyl CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

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

Familial apoceruloplasmin deficiency Gene Set

From CTD Gene-Disease Associations

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

Metachromatic Leukodystrophy due to Saposin B Deficiency Gene Set

From CTD Gene-Disease Associations

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

Glutamine deficiency, congenital Gene Set

From CTD Gene-Disease Associations

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

Sulfite oxidase deficiency Gene Set

From CTD Gene-Disease Associations

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

Pyruvate Kinase Deficiency of Red Cells Gene Set

From CTD Gene-Disease Associations

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

Factor VII Deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

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

IRAK4 Deficiency Gene Set

From CTD Gene-Disease Associations

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

Butyrylcholinesterase deficiency Gene Set

From CTD Gene-Disease Associations

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

Short chain Acyl CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

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

Gamma aminobutyric acid transaminase deficiency Gene Set

From CTD Gene-Disease Associations

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

Pyruvate Carboxylase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

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

Complement Component 6 Deficiency Gene Set

From CTD Gene-Disease Associations

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

Glutamate formiminotransferase deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor XII Deficiency Gene Set

From CTD Gene-Disease Associations

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

Aromatase deficiency Gene Set

From CTD Gene-Disease Associations

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

Urocanase deficiency Gene Set

From CTD Gene-Disease Associations

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

Phosphoserine Aminotransferase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Ectodermal dysplasia, hypohidrotic, with immune deficiency Gene Set

From CTD Gene-Disease Associations

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

Immunoglobulin a deficiency 2 Gene Set

From CTD Gene-Disease Associations

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

Immunoglobulin a deficiency 1 Gene Set

From CTD Gene-Disease Associations

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

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

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

Glucosephosphate Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Mitochondrial complex I deficiency Gene Set

From CTD Gene-Disease Associations

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

Follicle-stimulating hormone deficiency, isolated Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Immunologic Deficiency Syndromes Gene Set

From CTD Gene-Disease Associations

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

protein s deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

systemic primary carnitine deficiency disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

purine nucleoside phosphorylase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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