Name

pyridoxine deficiency anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

pyridoxine-responsive sideroblastic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

?anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia; anemia, sickle cell; hemoglobin c disease; hemoglobin sc disease; heterozygous haemoglobin s; malaria, falciparum; parasitemia; sickle cell anemia; sickle cell trait Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia; anemia, sickle cell; hemoglobin c disease; hemoglobin sc disease; heterozygous haemoglobin s; malaria, falciparum; parasitemia; sickle cell anemia; sickle cell trait 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.

alpha thalassemia; alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase deficiency; hemolysis; sickle cell anemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha thalassemia; alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase deficiency; hemolysis; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, sickle cell; glucosephosphate dehydrogenase deficiency; sickle cell anemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sickle cell; glucosephosphate dehydrogenase deficiency; sickle cell anemia 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; 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; 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; 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; 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.

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.

Homocystinuria, pyridoxine-responsive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria, pyridoxine-responsive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria, pyridoxine-nonresponsive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria, pyridoxine-nonresponsive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyridoxine-dependent epilepsy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyridoxine-dependent epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

pyridoxine-7171 Gene Set

From CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the pyridoxine-7171 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

pyridoxine-5813 Gene Set

From CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the pyridoxine-5813 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

pyridoxine-2751 Gene Set

From CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the pyridoxine-2751 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

pyridoxine-1759 Gene Set

From CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the pyridoxine-1759 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

Pyridoxine Gene Set

From CTD Gene-Chemical Interactions

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

Pyridoxine-dependent epilepsy Gene Set

From CTD Gene-Disease Associations

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

Pyridoxine Gene Set

From DrugBank Drug Targets

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

Pyridoxine-5'-Phosphate Gene Set

From DrugBank Drug Targets

interacting proteins for the Pyridoxine-5'-Phosphate drug from the curated DrugBank Drug Targets dataset.

pyridoxine Gene Set

From GeneRIF Biological Term Annotations

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

pyridoxine metabolic process Gene Set

From GO Biological Process Annotations

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

pyridoxine biosynthetic process Gene Set

From GO Biological Process Annotations

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

Pyridoxine 5'-phosphate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Pyridoxine 5'-phosphate metabolite from the curated HMDB Metabolites of Enzymes dataset.

Pyridoxine Gene Set

From HMDB Metabolites of Enzymes

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

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

From InterPro Predicted Protein Domain Annotations

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

epilepsy, pyridoxine-dependent Gene Set

From OMIM Gene-Disease Associations

genes associated with the epilepsy, pyridoxine-dependent phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, sickle cell; bacterial infections; enterobacteriaceae infections; osteomyelitis; sepsis; sickle cell anemia; staphylococcal infections; systemic infection; unspecified osteomyelitis nos Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sickle cell; bacterial infections; enterobacteriaceae infections; osteomyelitis; sepsis; sickle cell anemia; staphylococcal infections; systemic infection; unspecified osteomyelitis nos in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, sickle cell; infarction; ischemia; sickle cell anemia; vascular diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sickle cell; infarction; ischemia; sickle cell anemia; vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, sickle cell; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; sickle cell anemia Gene Set

From GAD Gene-Disease Associations

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

anemia, aplastic; aplastic anemia; myelodysplastic syndromes; preleukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, aplastic; aplastic anemia; myelodysplastic syndromes; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, sickle cell; apoplexy; sickle cell anemia; stroke Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell; beta thalassemia; beta-thalassemia; sickle cell anemia Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell; pain; sickle cell anemia Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell; sickle cell anemia; thalassemia Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell; beta thalassemia; beta-thalassemia; sickle cell anemia; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

anemia, aplastic; aplastic anemia; leukemia, myeloid; myelodysplastic syndromes; myeloid leukemia; preleukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, aplastic; aplastic anemia; leukemia, myeloid; myelodysplastic syndromes; myeloid leukemia; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, sickle cell; bone diseases; sickle cell anemia Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell; inflammation; sickle cell anemia Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell; glycogen storage disease type i; sickle cell anemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sickle cell; glycogen storage disease type i; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fanconi anemia; fanconi's anemia; kidney neoplasms; nephroblastoma; wilms tumor Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fanconi anemia; fanconi's anemia; kidney neoplasms; nephroblastoma; wilms tumor in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, aplastic; aplastic anemia; genetic diseases, inborn; graft vs host disease; hematologic neoplasms; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, aplastic; aplastic anemia; genetic diseases, inborn; graft vs host disease; hematologic neoplasms; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, sickle cell; bacterial infections; sickle cell anemia Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell; sickle cell anemia Gene Set

From GAD Gene-Disease Associations

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

fanconi anemia; fanconi's anemia; hematologic diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fanconi anemia; fanconi's anemia; hematologic diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, sickle cell; sickle cell anemia; trachoma Gene Set

From GAD Gene-Disease Associations

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

anemia, refractory; anemia, sideroblastic; myelodysplastic syndromes; thrombocytosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, refractory; anemia, sideroblastic; myelodysplastic syndromes; thrombocytosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, sickle cell; heterozygous haemoglobin s; malaria; sickle cell anemia; sickle cell trait Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sickle cell; heterozygous haemoglobin s; malaria; sickle cell anemia; sickle cell trait 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.

albuminuria; alpha thalassemia; alpha-thalassemia; anemia, sickle cell; sickle cell anemia Gene Set

From GAD Gene-Disease Associations

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

anemia, diamond-blackfan; diamond-blackfan anemia Gene Set

From GAD Gene-Disease Associations

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

anemia, aplastic; aplastic anemia; disease susceptibility Gene Set

From GAD Gene-Disease Associations

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

anemia, sideroblastic; hemochromatosis; myelodysplastic syndromes; preleukemia; sideroblastic anemia Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell; beta thalassemia; beta-thalassemia; blood coagulation disorders, inherited; sickle cell anemia; vascular diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sickle cell; beta thalassemia; beta-thalassemia; blood coagulation disorders, inherited; sickle cell anemia; vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, aplastic; aplastic anemia; hemoglobinuria, paroxysmal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, aplastic; aplastic anemia; hemoglobinuria, paroxysmal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, aplastic; aplastic anemia Gene Set

From GAD Gene-Disease Associations

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

alpha thalassemia; alpha-thalassemia; anemia, sickle cell; bone necrosis; osteonecrosis; sickle cell anemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha thalassemia; alpha-thalassemia; anemia, sickle cell; bone necrosis; osteonecrosis; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha thalassemia; alpha-thalassemia; anemia, sickle cell; sickle cell anemia Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell; peripheral vascular diseases; sickle cell anemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sickle cell; peripheral vascular diseases; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease 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.

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.

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.

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.

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.

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.

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.

Anemia, Iron-Deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

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.

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.

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.

Iron-Refractory Iron Deficiency Anemia Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

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.

iron deficiency anemia Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

folic acid deficiency anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

deficiency anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

iron deficiency anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

protein-deficiency anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

alpha-thalassemia; anemia; glucosephosphate dehydrogenase deficiency; malaria, falciparum; sickle cell trait Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha-thalassemia; anemia; glucosephosphate dehydrogenase deficiency; malaria, falciparum; sickle cell trait in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase deficiency; hemolysis; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase deficiency; hemolysis; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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.

sickle cell anemia; g6pd deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease sickle cell anemia; g6pd deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

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.

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.

hemolytic anemia due to phosphofructokinase deficiency Gene Set

From OMIM Gene-Disease Associations

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

megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

hemolytic anemia due to glutathione peroxidase deficiency Gene Set

From OMIM Gene-Disease Associations

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

anemia, hemolytic, due to umph1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the anemia, hemolytic, due to umph1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to g6pd deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to g6pd deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to glutathione synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

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

hemolytic anemia due to adenylate kinase deficiency Gene Set

From OMIM Gene-Disease Associations

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

hemolytic anemia due to glutathione reductase deficiency Gene Set

From OMIM Gene-Disease Associations

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

hemolytic anemia due to triosephosphate isomerase deficiency Gene Set

From OMIM Gene-Disease Associations

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

hemolytic anemia due to hexokinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to hexokinase deficiency phenotype from the curated OMIM 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.

Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) Gene Set

From Reactome Pathways

proteins participating in the Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) pathway from the Reactome Pathways 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

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

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

From Reactome Pathways

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

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

From Reactome Pathways

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

Fanconi anemia, complementation group O Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fanconi anemia, complementation group O phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fanconi anemia, complementation group A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fanconi anemia, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcytic anemia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcytic anemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diamond-Blackfan anemia 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diamond-Blackfan anemia 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diamond-Blackfan anemia 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diamond-Blackfan anemia 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary sideroblastic anemia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary sideroblastic anemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia Gene Set

From ClinVar Gene-Phenotype Associations

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

Anemia sideroblastic and spinocerebellar ataxia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anemia sideroblastic and spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diamond-Blackfan anemia 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diamond-Blackfan anemia 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diamond-Blackfan anemia 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diamond-Blackfan anemia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diamond-Blackfan anemia 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diamond-Blackfan anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diamond-Blackfan anemia 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diamond-Blackfan anemia 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fanconi anemia, complementation group Q Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fanconi anemia, complementation group Q phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fanconi anemia, complementation group M Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fanconi anemia, complementation group M phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fanconi anemia, complementation group N Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fanconi anemia, complementation group N phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fanconi anemia, complementation group E Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fanconi anemia, complementation group E phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fanconi anemia, complementation group F Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fanconi anemia, complementation group F phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fanconi anemia, complementation group G Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fanconi anemia, complementation group G phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital dyserythropoietic anemia, type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital dyserythropoietic anemia, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia due to inborn errors of metabolism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to inborn errors of metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fanconi anemia, complementation group I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fanconi anemia, complementation group I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fanconi anemia, complementation group C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fanconi anemia, complementation group C 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.

Aplastic anemia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aplastic anemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital dyserythropoietic anemia, type II Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital dyserythropoietic anemia, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, distal, with hemolytic anemia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, distal, with hemolytic anemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fanconi anemia, complementation group D2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fanconi anemia, complementation group D2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

FA core complex (Fanconi anemia core complex) Gene Set

From CORUM Protein Complexes

proteins in the FA core complex (Fanconi anemia core complex) protein complex from the CORUM Protein Complexes dataset.

FA core complex 1 (Fanconi anemia core complex 1) Gene Set

From CORUM Protein Complexes

proteins in the FA core complex 1 (Fanconi anemia core complex 1) protein complex from the CORUM Protein Complexes dataset.

FA complex (Fanconi anemia complex), cytoplasmic Gene Set

From CORUM Protein Complexes

proteins in the FA complex (Fanconi anemia complex), cytoplasmic protein complex from the CORUM Protein Complexes dataset.

FA complex (Fanconi anemia complex) Gene Set

From CORUM Protein Complexes

proteins in the FA complex (Fanconi anemia complex) protein complex from the CORUM Protein Complexes dataset.

Heinz Body Anemias Gene Set

From CTD Gene-Disease Associations

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

Anemia, Aplastic Gene Set

From CTD Gene-Disease Associations

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

Anemia, Hemolytic, Congenital Nonspherocytic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Hemolytic, Congenital Nonspherocytic from the curated CTD Gene-Disease Associations dataset.

Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis from the curated CTD Gene-Disease Associations dataset.

FANCONI ANEMIA, COMPLEMENTATION GROUP C Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FANCONI ANEMIA, COMPLEMENTATION GROUP C from the curated CTD Gene-Disease Associations dataset.

Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type from the curated CTD Gene-Disease Associations dataset.

Diamond-Blackfan Anemia 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diamond-Blackfan Anemia 4 from the curated CTD Gene-Disease Associations dataset.

FANCONI ANEMIA, COMPLEMENTATION GROUP E Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FANCONI ANEMIA, COMPLEMENTATION GROUP E from the curated CTD Gene-Disease Associations dataset.

FANCONI ANEMIA, COMPLEMENTATION GROUP F Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FANCONI ANEMIA, COMPLEMENTATION GROUP F from the curated CTD Gene-Disease Associations dataset.

Anemia, Diamond-Blackfan, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Diamond-Blackfan, 2 from the curated CTD Gene-Disease Associations dataset.

Fanconi Anemia, Complementation Group J Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fanconi Anemia, Complementation Group J from the curated CTD Gene-Disease Associations dataset.

Anemia, sideroblastic spinocerebellar ataxia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, sideroblastic spinocerebellar ataxia from the curated CTD Gene-Disease Associations dataset.

Fanconi Anemia, Complementation Group B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fanconi Anemia, Complementation Group B from the curated CTD Gene-Disease Associations dataset.

Fanconi Anemia, Complementation Group N Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fanconi Anemia, Complementation Group N from the curated CTD Gene-Disease Associations dataset.

Renal Tubular Acidosis, Distal, With Hemolytic Anemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal Tubular Acidosis, Distal, With Hemolytic Anemia from the curated CTD Gene-Disease Associations dataset.

MEGALOBLASTIC ANEMIA 1 Gene Set

From CTD Gene-Disease Associations

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

Myopathy with lactic acidosis and sideroblastic anemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy with lactic acidosis and sideroblastic anemia from the curated CTD Gene-Disease Associations dataset.

Fanconi Anemia Gene Set

From CTD Gene-Disease Associations

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

Anemia, Hemolytic Gene Set

From CTD Gene-Disease Associations

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

Anemia, Hypoplastic, Congenital Gene Set

From CTD Gene-Disease Associations

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

Anemia, Diamond-Blackfan Gene Set

From CTD Gene-Disease Associations

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

Anemia, Megaloblastic Gene Set

From CTD Gene-Disease Associations

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

Anemia, Hemolytic, Congenital Gene Set

From CTD Gene-Disease Associations

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

Anemia, Sideroblastic Gene Set

From CTD Gene-Disease Associations

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

Anemia, Sickle Cell Gene Set

From CTD Gene-Disease Associations

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

SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY TO, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY TO, 1 from the curated CTD Gene-Disease Associations dataset.

FANCONI ANEMIA, COMPLEMENTATION GROUP D2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FANCONI ANEMIA, COMPLEMENTATION GROUP D2 from the curated CTD Gene-Disease Associations dataset.

Thiamine responsive megaloblastic anemia syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thiamine responsive megaloblastic anemia syndrome from the curated CTD Gene-Disease Associations dataset.

Anemia, Macrocytic Gene Set

From CTD Gene-Disease Associations

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

X-linked sideroblastic anemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease X-linked sideroblastic anemia from the curated CTD Gene-Disease Associations dataset.

Fanconi Anemia, Complementation Group I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fanconi Anemia, Complementation Group I from the curated CTD Gene-Disease Associations dataset.

FANCONI ANEMIA, COMPLEMENTATION GROUP O Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FANCONI ANEMIA, COMPLEMENTATION GROUP O from the curated CTD Gene-Disease Associations dataset.

Anemia Gene Set

From CTD Gene-Disease Associations

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

Fanconi Anemia, Complementation Group D1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fanconi Anemia, Complementation Group D1 from the curated CTD Gene-Disease Associations dataset.

DIAMOND-BLACKFAN ANEMIA 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DIAMOND-BLACKFAN ANEMIA 6 from the curated CTD Gene-Disease Associations dataset.

Anemia, Diamond-Blackfan, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Diamond-Blackfan, 3 from the curated CTD Gene-Disease Associations dataset.

Diamond-Blackfan Anemia 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diamond-Blackfan Anemia 9 from the curated CTD Gene-Disease Associations dataset.

Diamond-Blackfan Anemia 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diamond-Blackfan Anemia 8 from the curated CTD Gene-Disease Associations dataset.

Diamond-Blackfan Anemia 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diamond-Blackfan Anemia 5 from the curated CTD Gene-Disease Associations dataset.

Diamond-Blackfan Anemia 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diamond-Blackfan Anemia 7 from the curated CTD Gene-Disease Associations dataset.

THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA from the curated CTD Gene-Disease Associations dataset.

Anemia, Refractory Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Refractory 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.

Anemia, Hemolytic, Autoimmune Gene Set

From CTD Gene-Disease Associations

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

Anemia, Neonatal Gene Set

From CTD Gene-Disease Associations

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

Diamond-Blackfan Anemia 10 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diamond-Blackfan Anemia 10 from the curated CTD Gene-Disease Associations dataset.

Anemia, hypochromic microcytic Gene Set

From CTD Gene-Disease Associations

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

Anemia, Dyserythropoietic, Congenital Gene Set

From CTD Gene-Disease Associations

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

Anemia Gene Set

From dbGAP Gene-Trait Associations

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

Anemia, Sickle Cell Gene Set

From dbGAP Gene-Trait Associations

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

anemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

fanconi's anemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease fanconi's anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

diamond-blackfan anemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

sideroblastic anemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

hemolytic anemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

normocytic anemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

x-linked sideroblastic anemia with ataxia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease x-linked sideroblastic anemia with ataxia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital dyserythropoietic anemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

aplastic anemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

congenital hemolytic anemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

congenital hypoplastic anemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

x-linked sideroblastic anemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease x-linked sideroblastic anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

anemia Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

hemolytic anemia Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

microcytic anemia Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

normocytic anemia Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

fanconi's anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

sickle cell anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

pernicious anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

anemia of prematurity Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

neonatal anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

sideroblastic anemia with spinocerebellar ataxia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

microcytic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

myelophthisic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

autoimmune hemolytic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

x-linked sideroblastic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital hypoplastic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

hypochromic microcytic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital nonspherocytic hemolytic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

macrocytic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

normocytic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

hemolytic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

diamond-blackfan anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

x-linked sideroblastic anemia with ataxia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital dyserythropoietic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital hemolytic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

sideroblastic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

hypochromic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

megaloblastic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

aplastic anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

anemia; hepatitis c Gene Set

From GAD Gene-Disease Associations

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

anemia; malaria, falciparum; parasitemia Gene Set

From GAD Gene-Disease Associations

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

anemia; malaria, cerebral; malaria, falciparum; parasitemia Gene Set

From GAD Gene-Disease Associations

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

anemia; thrombocytopenic purpura, idiopathic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia; thrombocytopenic purpura, idiopathic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, sickle cell; beta-thalassemia; sickle cell trait; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sickle cell; beta-thalassemia; sickle cell trait; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hereditary nonspherocytic hemolytic anemia (hnsha). Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hereditary nonspherocytic hemolytic anemia (hnsha). in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha thalassemia; alpha-thalassemia; anemia; malaria, cerebral; malaria, falciparum Gene Set

From GAD Gene-Disease Associations

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

anemia, aplastic; fanconi syndrome; Gene Set

From GAD Gene-Disease Associations

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

sickle cell anemia Gene Set

From GAD Gene-Disease Associations

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

anemia, malaria related; malaria, cerebral Gene Set

From GAD Gene-Disease Associations

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

anemia; malaria; parasitemia Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell; pain Gene Set

From GAD Gene-Disease Associations

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

bloom syndrome; fanconi's anemia Gene Set

From GAD Gene-Disease Associations

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

anemia in pregnancy Gene Set

From GAD Gene-Disease Associations

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

anemia, aplastic; Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell; ischemia; recurrence; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sickle cell; ischemia; recurrence; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hereditary hemolytic anemia. Gene Set

From GAD Gene-Disease Associations

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

anemia, aplastic Gene Set

From GAD Gene-Disease Associations

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

cholelithiasis; sickle cell anemia Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell; kidney diseases; lung diseases; nervous system diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sickle cell; kidney diseases; lung diseases; nervous system diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, sickle cell; lung diseases; syndrome Gene Set

From GAD Gene-Disease Associations

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

anemia; brain death Gene Set

From GAD Gene-Disease Associations

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

anemia; kidney diseases; red-cell aplasia, pure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia; kidney diseases; red-cell aplasia, pure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, sickle cell; osteomyelitis Gene Set

From GAD Gene-Disease Associations

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

amyloidosis; anemia; chronic disease Gene Set

From GAD Gene-Disease Associations

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

diamond-blackfan anemia Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell; gallbladder diseases; hyperbilirubinemia Gene Set

From GAD Gene-Disease Associations

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

anemia, refractory; myelodysplastic syndromes; preleukemia; refractory anaemia -retired- Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, refractory; myelodysplastic syndromes; preleukemia; refractory anaemia -retired- in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

stroke; sickle cell anemia Gene Set

From GAD Gene-Disease Associations

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

anemia; malaria Gene Set

From GAD Gene-Disease Associations

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

fanconi anemia Gene Set

From GAD Gene-Disease Associations

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

aplastic anemia, acquired Gene Set

From GAD Gene-Disease Associations

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

alpha-thalassemia; anemia; malaria Gene Set

From GAD Gene-Disease Associations

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

cerebrovascular disease; sickle cell anemia Gene Set

From GAD Gene-Disease Associations

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

anemia; malaria, falciparum Gene Set

From GAD Gene-Disease Associations

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

alpha-thalassemia; anemia, sickle cell; cholelithiasis Gene Set

From GAD Gene-Disease Associations

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

malarial anemia and cerebral malaria Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell; hepatitis c Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell; stroke Gene Set

From GAD Gene-Disease Associations

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

anemia, hemolytic Gene Set

From GAD Gene-Disease Associations

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

malarial anemia in ghanaian children Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell Gene Set

From GAD Gene-Disease Associations

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

anemia, hemolytic; hepatitis c, chronic Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell; beta-thalassemia; hemoglobinopathies Gene Set

From GAD Gene-Disease Associations

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

alpha-thalassemia; anemia; beta-thalassemia; hiv infections; pregnancy complications, hematologic; pregnancy complications, infectious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha-thalassemia; anemia; beta-thalassemia; hiv infections; pregnancy complications, hematologic; pregnancy complications, infectious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia; hepatitis c, chronic Gene Set

From GAD Gene-Disease Associations

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

anemia; malaria; malaria, falciparum; parasitemia Gene Set

From GAD Gene-Disease Associations

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

chronic nonspherocytic anemia. Gene Set

From GAD Gene-Disease Associations

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

aplastic anemia Gene Set

From GAD Gene-Disease Associations

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

anemia; inflammation; kidney failure, chronic Gene Set

From GAD Gene-Disease Associations

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

alpha-thalassemia; anemia, hypochromic Gene Set

From GAD Gene-Disease Associations

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

anemia Gene Set

From GAD Gene-Disease Associations

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

anemia; drug toxicity; lymphoma, non-hodgkin; precursor cell lymphoblastic leukemia-lymphoma; thrombocytopenia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia; drug toxicity; lymphoma, non-hodgkin; precursor cell lymphoblastic leukemia-lymphoma; thrombocytopenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hereditary hemolytic anemia Gene Set

From GAD Gene-Disease Associations

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

anemia, sickle cell; arterial occlusive diseases; constriction, pathologic; ischemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sickle cell; arterial occlusive diseases; constriction, pathologic; ischemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha thalassemia; alpha-thalassemia; anemia, hypochromic Gene Set

From GAD Gene-Disease Associations

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

chronic hemolytic anemia Gene Set

From GAD Gene-Disease Associations

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

macrothrombocytopenia and anemia Gene Set

From GAD Gene-Disease Associations

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

anemia; chronic renal failure; kidney failure, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia; chronic renal failure; kidney failure, chronic 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.

anemia, sickle cell; bacteremia; Gene Set

From GAD Gene-Disease Associations

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

sickle cell anemia; thalassemia; gilbert syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease sickle cell anemia; thalassemia; gilbert syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemiabrca Gene Set

From GeneRIF Biological Term Annotations

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

anemiafagene Gene Set

From GeneRIF Biological Term Annotations

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

anemias Gene Set

From GeneRIF Biological Term Annotations

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

anemia Gene Set

From GeneRIF Biological Term Annotations

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

Sickle Cell Anemia_Endothelial cell_GSE9877 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Sickle Cell Anemia_Endothelial cell_GSE9877 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Systolic blood pressure in sickle cell anemia Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Systolic blood pressure in sickle cell anemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Sickle cell anemia (haemolysis) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Sickle cell anemia (haemolysis) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Ribavirin-induced anemia Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Ribavirin-induced anemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

anemia Gene Set

From GWASdb SNP-Disease Associations

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

hemolytic anemia Gene Set

From GWASdb SNP-Disease Associations

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

microcytic anemia Gene Set

From GWASdb SNP-Disease Associations

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

sickle cell anemia Gene Set

From GWASdb SNP-Disease Associations

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

normocytic anemia Gene Set

From GWASdb SNP-Disease Associations

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

congenital hemolytic anemia Gene Set

From GWASdb SNP-Disease Associations

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

anemia Gene Set

From GWASdb SNP-Phenotype Associations

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

anemia due to reduced life span of red cells Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the anemia due to reduced life span of red cells phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

hemolytic anemia Gene Set

From GWASdb SNP-Phenotype Associations

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

microcytic anemia Gene Set

From HPO Gene-Disease Associations

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

nonspherocytic hemolytic anemia Gene Set

From HPO Gene-Disease Associations

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

macrocytic dyserythropoietic anemia Gene Set

From HPO Gene-Disease Associations

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

fava bean-induced hemolytic anemia Gene Set

From HPO Gene-Disease Associations

genes associated with the fava bean-induced hemolytic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

thiamine-responsive megaloblastic anemia Gene Set

From HPO Gene-Disease Associations

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

refractory anemia Gene Set

From HPO Gene-Disease Associations

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

anemia due to reduced life span of red cells Gene Set

From HPO Gene-Disease Associations

genes associated with the anemia due to reduced life span of red cells phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplastic anemia Gene Set

From HPO Gene-Disease Associations

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

hypochromic anemia Gene Set

From HPO Gene-Disease Associations

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

refractory macrocytic anemia Gene Set

From HPO Gene-Disease Associations

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

heinz body anemia Gene Set

From HPO Gene-Disease Associations

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

compensated hemolytic anemia Gene Set

From HPO Gene-Disease Associations

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

anemia of inadequate production Gene Set

From HPO Gene-Disease Associations

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

hypochromic microcytic anemia Gene Set

From HPO Gene-Disease Associations

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

folate-responsive megaloblastic anemia Gene Set

From HPO Gene-Disease Associations

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

normocytic hypoplastic anemia Gene Set

From HPO Gene-Disease Associations

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

macrocytic anemia Gene Set

From HPO Gene-Disease Associations

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

pyrimidine-responsive megaloblastic anemia Gene Set

From HPO Gene-Disease Associations

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

coombs-positive hemolytic anemia Gene Set

From HPO Gene-Disease Associations

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

normochromic microcytic anemia Gene Set

From HPO Gene-Disease Associations

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

megaloblastic anemia Gene Set

From HPO Gene-Disease Associations

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

autoimmune hemolytic anemia Gene Set

From HPO Gene-Disease Associations

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

hemolytic anemia Gene Set

From HPO Gene-Disease Associations

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

congenital hemolytic anemia Gene Set

From HPO Gene-Disease Associations

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

normochromic anemia Gene Set

From HPO Gene-Disease Associations

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

aplastic anemia Gene Set

From HPO Gene-Disease Associations

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

anemia Gene Set

From HPO Gene-Disease Associations

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

microangiopathic hemolytic anemia Gene Set

From HPO Gene-Disease Associations

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

congenital hypoplastic anemia Gene Set

From HPO Gene-Disease Associations

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

folate-unresponsive megaloblastic anemia Gene Set

From HPO Gene-Disease Associations

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

chronic hemolytic anemia Gene Set

From HPO Gene-Disease Associations

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

normocytic anemia Gene Set

From HPO Gene-Disease Associations

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

sideroblastic anemia Gene Set

From HPO Gene-Disease Associations

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

episodic hemolytic anemia Gene Set

From HPO Gene-Disease Associations

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

Anemia, Refractory, with Excess of Blasts Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Anemia, Refractory, with Excess of Blasts phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Anemia, Aplastic Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Anemia, Hemolytic, Congenital Nonspherocytic Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Fanconi Anemia Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Anemia, Pernicious Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Anemia, Hemolytic Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Anemia, Hemolytic, Congenital Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Anemia, Diamond-Blackfan Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Anemia, Megaloblastic Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Anemia, Sickle Cell Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Anemia, Macrocytic Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Anemia, Hypochromic Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Anemia Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Anemia, Refractory Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Anemia, Hemolytic, Autoimmune Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Fanconi anemia-associated protein of 24kDa Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Fanconi anemia-associated protein of 24kDa protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Fanconi anemia-associated protein of 100kDa Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Fanconi anemia-associated protein of 100kDa protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Fanconi anemia group I protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Fanconi anemia group I protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Fanconi anemia complex, subunit FancL, WD-repeat containing domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Fanconi anemia complex, subunit FancL, WD-repeat containing domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

microcytic anemia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the microcytic anemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

hypochromic microcytic anemia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the hypochromic microcytic anemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

hypochromic anemia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the hypochromic anemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

hyperchromic macrocytic anemia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the hyperchromic macrocytic anemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

macrocytic anemia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the macrocytic anemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased susceptibility to autoimmune hemolytic anemia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased susceptibility to autoimmune hemolytic anemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

hemolytic anemia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the hemolytic anemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased susceptibility to autoimmune hemolytic anemia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased susceptibility to autoimmune hemolytic anemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

anemia Gene Set

From MPO Gene-Phenotype Associations

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

hypochromic macrocytic anemia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the hypochromic macrocytic anemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

dyserythropoietic anemia, congenital, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyserythropoietic anemia, congenital, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

fanconi anemia, complementation group p Gene Set

From OMIM Gene-Disease Associations

genes associated with the fanconi anemia, complementation group p phenotype from the curated OMIM Gene-Disease Associations dataset.

fanconi anemia, complementation group q Gene Set

From OMIM Gene-Disease Associations

genes associated with the fanconi anemia, complementation group q phenotype from the curated OMIM Gene-Disease Associations dataset.

fanconi anemia, complementation group i Gene Set

From OMIM Gene-Disease Associations

genes associated with the fanconi anemia, complementation group i phenotype from the curated OMIM Gene-Disease Associations dataset.

fanconi anemia, complementation group j Gene Set

From OMIM Gene-Disease Associations

genes associated with the fanconi anemia, complementation group j phenotype from the curated OMIM Gene-Disease Associations dataset.

fanconi anemia, complementation group l Gene Set

From OMIM Gene-Disease Associations

genes associated with the fanconi anemia, complementation group l phenotype from the curated OMIM Gene-Disease Associations dataset.

fanconi anemia, complementation group m Gene Set

From OMIM Gene-Disease Associations

genes associated with the fanconi anemia, complementation group m phenotype from the curated OMIM Gene-Disease Associations dataset.

fanconi anemia, complementation group n Gene Set

From OMIM Gene-Disease Associations

genes associated with the fanconi anemia, complementation group n phenotype from the curated OMIM Gene-Disease Associations dataset.

fanconi anemia, complementation group o Gene Set

From OMIM Gene-Disease Associations

genes associated with the fanconi anemia, complementation group o phenotype from the curated OMIM Gene-Disease Associations dataset.

fanconi anemia, complementation group a Gene Set

From OMIM Gene-Disease Associations

genes associated with the fanconi anemia, complementation group a phenotype from the curated OMIM Gene-Disease Associations dataset.

fanconi anemia, complementation group b Gene Set

From OMIM Gene-Disease Associations

genes associated with the fanconi anemia, complementation group b phenotype from the curated OMIM Gene-Disease Associations dataset.

fanconi anemia, complementation group c Gene Set

From OMIM Gene-Disease Associations

genes associated with the fanconi anemia, complementation group c phenotype from the curated OMIM Gene-Disease Associations dataset.

fanconi anemia, complementation group e Gene Set

From OMIM Gene-Disease Associations

genes associated with the fanconi anemia, complementation group e phenotype from the curated OMIM Gene-Disease Associations dataset.

fanconi anemia, complementation group f Gene Set

From OMIM Gene-Disease Associations

genes associated with the fanconi anemia, complementation group f phenotype from the curated OMIM Gene-Disease Associations dataset.

fanconi anemia, complementation group g Gene Set

From OMIM Gene-Disease Associations

genes associated with the fanconi anemia, complementation group g phenotype from the curated OMIM Gene-Disease Associations dataset.

heinz body anemias, alpha- Gene Set

From OMIM Gene-Disease Associations

genes associated with the heinz body anemias, alpha- phenotype from the curated OMIM Gene-Disease Associations dataset.

dyserythropoietic anemia, congenital, type ia Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyserythropoietic anemia, congenital, type ia phenotype from the curated OMIM Gene-Disease Associations dataset.

dyserythropoietic anemia, congenital, type ib Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyserythropoietic anemia, congenital, type ib phenotype from the curated OMIM Gene-Disease Associations dataset.

dyserythropoietic anemia, congenital, type ii Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyserythropoietic anemia, congenital, type ii phenotype from the curated OMIM Gene-Disease Associations dataset.

sickle cell anemia Gene Set

From OMIM Gene-Disease Associations

genes associated with the sickle cell anemia phenotype from the curated OMIM Gene-Disease Associations dataset.

exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, sideroblastic, with ataxia Gene Set

From OMIM Gene-Disease Associations

genes associated with the anemia, sideroblastic, with ataxia phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, x-linked, with/without neutropenia and/or platelet abnormalities Gene Set

From OMIM Gene-Disease Associations

genes associated with the anemia, x-linked, with/without neutropenia and/or platelet abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset.

?diamond-blackfan anemia 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?diamond-blackfan anemia 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

?diamond-blackfan anemia 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?diamond-blackfan anemia 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

heinz body anemia Gene Set

From OMIM Gene-Disease Associations

genes associated with the heinz body anemia phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy phenotype from the curated OMIM Gene-Disease Associations dataset.

diamond-blackfan anemia 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the diamond-blackfan anemia 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

diamond-blackfan anemia 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the diamond-blackfan anemia 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

diamond-blackfan anemia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the diamond-blackfan anemia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

diamond-blackfan anemia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the diamond-blackfan anemia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

diamond-blackfan anemia 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the diamond-blackfan anemia 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

diamond-blackfan anemia 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the diamond-blackfan anemia 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

diamond-blackfan anemia 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the diamond-blackfan anemia 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

diamond-blackfan anemia 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the diamond-blackfan anemia 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, neonatal hemolytic, fatal and near-fatal Gene Set

From OMIM Gene-Disease Associations

genes associated with the anemia, neonatal hemolytic, fatal and near-fatal phenotype from the curated OMIM Gene-Disease Associations dataset.

diamond-blackfan anemia 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the diamond-blackfan anemia 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

diamond-blackfan anemia 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the diamond-blackfan anemia 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypochromic microcytic anemia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypochromic microcytic anemia phenotype from the curated OMIM Gene-Disease Associations dataset.

fanconi anemia, complementation group d1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the fanconi anemia, complementation group d1 phenotype from the curated OMIM Gene-Disease Associations dataset.

fanconi anemia, complementation group d2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the fanconi anemia, complementation group d2 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.

macrocytic anemia, refractory, due to 5q deletion, somatic Gene Set

From OMIM Gene-Disease Associations

genes associated with the macrocytic anemia, refractory, due to 5q deletion, somatic phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, sideroblastic, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the anemia, sideroblastic, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombocytopenia, x-linked, with or without dyserythropoietic anemia Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombocytopenia, x-linked, with or without dyserythropoietic anemia phenotype from the curated OMIM Gene-Disease Associations dataset.

megaloblastic anemia-1, finnish type Gene Set

From OMIM Gene-Disease Associations

genes associated with the megaloblastic anemia-1, finnish type phenotype from the curated OMIM Gene-Disease Associations dataset.

diamond-blackfan anemia 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the diamond-blackfan anemia 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

{systemic lupus erythematosus with hemolytic anemia} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {systemic lupus erythematosus with hemolytic anemia} phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial myopathy and sideroblastic anemia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial myopathy and sideroblastic anemia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

thiamine-responsive megaloblastic anemia syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the thiamine-responsive megaloblastic anemia syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

homocystinuria-megaloblastic anemia, cbl e type Gene Set

From OMIM Gene-Disease Associations

genes associated with the homocystinuria-megaloblastic anemia, cbl e type phenotype from the curated OMIM Gene-Disease Associations dataset.

aplastic anemia Gene Set

From OMIM Gene-Disease Associations

genes associated with the aplastic anemia phenotype from the curated OMIM Gene-Disease Associations dataset.

{aplastic anemia} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {aplastic anemia} phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, lactic acidosis, and sideroblastic anemia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, hypochromic microcytic Gene Set

From OMIM Gene-Disease Associations

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

homocystinuria-megaloblastic anemia, cblg complementation type Gene Set

From OMIM Gene-Disease Associations

genes associated with the homocystinuria-megaloblastic anemia, cblg complementation type phenotype from the curated OMIM Gene-Disease Associations dataset.

dyserythropoietic anemia, congenital, type iv Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyserythropoietic anemia, congenital, type iv phenotype from the curated OMIM Gene-Disease Associations dataset.

heinz body anemias, beta- Gene Set

From OMIM Gene-Disease Associations

genes associated with the heinz body anemias, beta- phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, hemolytic, rh-null, regulator type Gene Set

From OMIM Gene-Disease Associations

genes associated with the anemia, hemolytic, rh-null, regulator type phenotype from the curated OMIM Gene-Disease Associations dataset.

megaloblastic anemia-1, norwegian type Gene Set

From OMIM Gene-Disease Associations

genes associated with the megaloblastic anemia-1, norwegian type phenotype from the curated OMIM Gene-Disease Associations dataset.

sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene Set

From OMIM Gene-Disease Associations

genes associated with the sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset.

Fanconi anemia pathway Gene Set

From PID Pathways

proteins participating in the Fanconi anemia pathway pathway from the PID Pathways dataset.

Regulation of the Fanconi anemia pathway Gene Set

From Reactome Pathways

proteins participating in the Regulation of the Fanconi anemia pathway pathway from the Reactome Pathways dataset.

Defective AMN causes hereditary megaloblastic anemia 1 Gene Set

From Reactome Pathways

proteins participating in the Defective AMN causes hereditary megaloblastic anemia 1 pathway from the Reactome Pathways dataset.

Defective CUBN causes hereditary megaloblastic anemia 1 Gene Set

From Reactome Pathways

proteins participating in the Defective CUBN causes hereditary megaloblastic anemia 1 pathway from the Reactome Pathways dataset.

Defective TCN2 causes hereditary megaloblastic anemia Gene Set

From Reactome Pathways

proteins participating in the Defective TCN2 causes hereditary megaloblastic anemia pathway from the Reactome Pathways dataset.

Fanconi Anemia pathway Gene Set

From Reactome Pathways

proteins participating in the Fanconi Anemia pathway pathway from the Reactome Pathways dataset.

fanconi anemia disease specific cell type Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue fanconi anemia disease specific cell type in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

fanconi anemia lymphoid cell line Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue fanconi anemia lymphoid cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.