Name

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.

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.

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.

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.

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.

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.

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.

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 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.

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.

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.

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.

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.

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.

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.

THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN from the curated CTD Gene-Disease 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.

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.

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.

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.

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, 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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, 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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, 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.

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, 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.

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.

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.

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.

{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.

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.

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.

hexokinase Gene Set

From GeneRIF Biological Term Annotations

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

positive regulation of hexokinase activity Gene Set

From GO Biological Process Annotations

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

regulation of hexokinase activity Gene Set

From GO Biological Process Annotations

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

negative regulation of hexokinase activity Gene Set

From GO Biological Process Annotations

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

hexokinase activity Gene Set

From GO Molecular Function Annotations

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

Hexokinase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

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

Hexokinase, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

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

Hexokinase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

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

Hexokinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Hexokinase protein domain from the InterPro Predicted Protein Domain Annotations 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.

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.

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.

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.

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.

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.

factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

anemia, 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Leigh syndrome due to mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Metachromatic Leukodystrophy due to Saposin B Deficiency Gene Set

From CTD Gene-Disease Associations

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

{chronic infections, due to mbl deficiency} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {chronic infections, due to mbl deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to hrg deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to hrg deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to il2 deficiency Gene Set

From OMIM Gene-Disease Associations

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

thrombophilia due to protein s deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

nephropathy due to cfhr5 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the nephropathy due to cfhr5 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein s deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease, autosomal, due to deficiency of cyba Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease, autosomal, due to deficiency of cyba phenotype from the curated OMIM Gene-Disease Associations dataset.

?isolated growth hormone deficiency due to defect in ghrf Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to heparin cofactor ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to heparin cofactor ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, morbid, due to leptin receptor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, morbid, due to leptin receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

glucocorticoid deficiency, due to acth unresponsiveness Gene Set

From OMIM Gene-Disease Associations

genes associated with the glucocorticoid deficiency, due to acth unresponsiveness phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, congenital, due to partial lama2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, due to partial lama2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein c deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein c deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

lacticacidemia due to pdx1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the lacticacidemia due to pdx1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

muscular dystrophy, congenital, due to itga7 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, due to itga7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

homocystinuria due to mthfr deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the homocystinuria due to mthfr deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to ada deficiency Gene Set

From OMIM Gene-Disease Associations

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

leigh syndrome due to mitochondrial complex i deficiency Gene Set

From OMIM Gene-Disease Associations

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

thrombophilia due to protein c deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein c deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

cirrhosis due to liver phosphorylase kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the cirrhosis due to liver phosphorylase kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

metachromatic leukodystrophy due to sap-b deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the metachromatic leukodystrophy due to sap-b deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, morbid, due to leptin deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, morbid, due to leptin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome, due to cox deficiency Gene Set

From OMIM Gene-Disease Associations

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

growth retardation with deafness and mental retardation due to igf1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the growth retardation with deafness and mental retardation due to igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperammonemia due to carbonic anhydrase va deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperammonemia due to carbonic anhydrase va deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

bare lymphocyte syndrome, type i, due to tap2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the bare lymphocyte syndrome, type i, due to tap2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

emphysema due to aat deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the emphysema due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, adrenal insufficiency, and red hair due to pomc deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, adrenal insufficiency, and red hair due to pomc deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to antithrombin iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to antithrombin iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

erythrocytosis due to bisphosphoglycerate mutase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the erythrocytosis due to bisphosphoglycerate mutase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

aica-ribosiduria due to atic deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the aica-ribosiduria due to atic deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoaldosteronism, congenital, due to cmo i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, due to cmo i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to mitochondrial cox4 deficiency Gene Set

From OMIM Gene-Disease Associations

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

chronic granulomatous disease due to deficiency of ncf-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease due to deficiency of ncf-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease due to deficiency of ncf-1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease due to deficiency of ncf-1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypermethioninemia due to adenosine kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia due to adenosine kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

dystonia, dopa-responsive, due to sepiapterin reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the dystonia, dopa-responsive, due to sepiapterin reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to cytochrome c oxidase deficiency Gene Set

From OMIM Gene-Disease Associations

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

pyogenic bacterial infections, recurrent, due to myd88 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyogenic bacterial infections, recurrent, due to myd88 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

neurodegeneration due to cerebral folate transport deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the neurodegeneration due to cerebral folate transport deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to ficolin 3 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to ficolin 3 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to mitochondrial complex 1 deficiency Gene Set

From OMIM Gene-Disease Associations

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

{resistance to malaria due to g6pd deficiency} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {resistance to malaria due to g6pd deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy due to cpt ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy due to cpt ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

emphysema-cirrhosis, due to aat deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the emphysema-cirrhosis, due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoaldosteronism, congenital, due to cmo ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, due to cmo ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

?male infertility due to acrosin deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?male infertility due to acrosin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy due to myoadenylate deaminase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy due to myoadenylate deaminase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Anemia, Iron-Deficiency Gene Set

From CTD Gene-Disease Associations

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

Iron-Refractory Iron Deficiency Anemia Gene Set

From CTD Gene-Disease Associations

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

iron 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.

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.

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.

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.

Atypical hemolytic-uremic syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atypical hemolytic-uremic syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atypical hemolytic-uremic syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atypical hemolytic-uremic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

atypical hemolytic-uremic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the atypical hemolytic-uremic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atypical Hemolytic Uremic Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atypical Hemolytic Uremic Syndrome from the curated CTD Gene-Disease Associations dataset.

Hemolytic-Uremic Syndrome Gene Set

From CTD Gene-Disease Associations

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

hemolytic-uremic syndrome Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

hemolytic-uremic syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

hemolytic disease of the newborn Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

hemolytic-uremic syndrome; kidney failure, acute Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set

From GAD Gene-Disease Associations

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

hemolytic-uremic syndrome Gene Set

From GAD Gene-Disease Associations

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

hemolytic uremic syndrome Gene Set

From GAD Gene-Disease Associations

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

hemolytic disease Gene Set

From GAD Gene-Disease Associations

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

hemolytic-uremic syndrome; purpura, thrombotic thrombocytopenic Gene Set

From GAD Gene-Disease Associations

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

atypical hemolytic uremic syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

hemolytic Gene Set

From GeneRIF Biological Term Annotations

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

hemolytic-uremic syndrome Gene Set

From HPO Gene-Disease Associations

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

macrocytic hemolytic disease Gene Set

From HPO Gene-Disease Associations

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

spontaneous hemolytic crises Gene Set

From HPO Gene-Disease Associations

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

Hemolytic-Uremic Syndrome Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

{hemolytic uremic syndrome, atypical, susceptibility to, 3} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hemolytic uremic syndrome, atypical, susceptibility to, 3} phenotype from the curated OMIM Gene-Disease Associations dataset.

{hemolytic uremic syndrome, atypical, susceptibility to, 1} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hemolytic uremic syndrome, atypical, susceptibility to, 1} phenotype from the curated OMIM Gene-Disease Associations dataset.

{hemolytic uremic syndrome, atypical, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hemolytic uremic syndrome, atypical, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

{hemolytic uremic syndrome, atypical, susceptibility to, 4} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hemolytic uremic syndrome, atypical, susceptibility to, 4} phenotype from the curated OMIM Gene-Disease Associations dataset.

{hemolytic uremic syndrome, atypical, susceptibility to, 6} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hemolytic uremic syndrome, atypical, susceptibility to, 6} phenotype from the curated OMIM Gene-Disease Associations dataset.

{hemolytic uremic syndrome, atypical, susceptibility to, 2} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hemolytic uremic syndrome, atypical, susceptibility to, 2} phenotype from the curated OMIM Gene-Disease Associations dataset.

{hemolytic uremic syndrome, atypical, susceptibility to, 5} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hemolytic uremic syndrome, atypical, susceptibility to, 5} phenotype from the curated OMIM Gene-Disease Associations dataset.

Neuraminidase deficiency with beta-galactosidase deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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.

Thrombophilia due to activated protein C resistance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to activated protein C resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to thrombomodulin defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to thrombomodulin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to defect in cd3-zeta Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to defect in cd3-zeta phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, X-Linked, Due To Factor Ix Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia, X-Linked, Due To Factor Ix Defect from the curated CTD Gene-Disease Associations dataset.

METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT from the curated CTD Gene-Disease Associations dataset.

Pseudohyperkalemia, Familial, 2, due to Red Cell Leak Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pseudohyperkalemia, Familial, 2, due to Red Cell Leak from the curated CTD Gene-Disease Associations dataset.

HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION from the curated CTD Gene-Disease Associations dataset.

Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset.

Thrombophilia Due To Elevated Histidine-Rich Glycoprotein Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia Due To Elevated Histidine-Rich Glycoprotein from the curated CTD Gene-Disease Associations dataset.

Thrombophilia due to Activated Protein C Resistance Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia due to Activated Protein C Resistance from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency due to Defect in CD3-Zeta Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency due to Defect in CD3-Zeta from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency due to Defect in MAPBP-Interacting Protein from the curated CTD Gene-Disease Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 1 from the curated CTD Gene-Disease Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 2 from the curated CTD Gene-Disease Associations dataset.

thrombocytopenia due to platelet alloimmunization Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease thrombocytopenia due to platelet alloimmunization in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

pneumoconiosis due to talc Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

hereditary spastic paraparesis due to a frame shift mutat Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hereditary spastic paraparesis due to a frame shift mutat in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

depressed suicide; suicide due to depression Gene Set

From GAD Gene-Disease Associations

genes associated with the disease depressed suicide; suicide due to depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

due Gene Set

From GeneRIF Biological Term Annotations

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

decreased cervical spine flexion due to contractures of posterior cervical muscles Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased cervical spine flexion due to contractures of posterior cervical muscles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

restricted neck movement due to contractures Gene Set

From HPO Gene-Disease Associations

genes associated with the restricted neck movement due to contractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

chronic rhinitis due to narrow nasal airway Gene Set

From HPO Gene-Disease Associations

genes associated with the chronic rhinitis due to narrow nasal airway phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteomyelitis due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

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

osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) Gene Set

From HPO Gene-Disease Associations

genes associated with the osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bowing of limbs due to multiple fractures Gene Set

From HPO Gene-Disease Associations

genes associated with the bowing of limbs due to multiple fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

respiratory insufficiency due to muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteomyelitis leading to amputation due to slow healing fractures Gene Set

From HPO Gene-Disease Associations

genes associated with the osteomyelitis leading to amputation due to slow healing fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

weakness due to upper motor neuron dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the weakness due to upper motor neuron dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

self-mutilation of tongue and lips due to involuntary movements Gene Set

From HPO Gene-Disease Associations

genes associated with the self-mutilation of tongue and lips due to involuntary movements phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

respiratory insufficiency due to defective ciliary clearance Gene Set

From HPO Gene-Disease Associations

genes associated with the respiratory insufficiency due to defective ciliary clearance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

recurrent infections due to aspiration Gene Set

From HPO Gene-Disease Associations

genes associated with the recurrent infections due to aspiration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

generalized hypotonia due to defect at the neuromuscular junction Gene Set

From HPO Gene-Disease Associations

genes associated with the generalized hypotonia due to defect at the neuromuscular junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

chronic hepatitis due to cryptospridium infection Gene Set

From HPO Gene-Disease Associations

genes associated with the chronic hepatitis due to cryptospridium infection phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

subperiosteal erosions due to secondary hyperparathyroidism Gene Set

From HPO Gene-Disease Associations

genes associated with the subperiosteal erosions due to secondary hyperparathyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

painless fractures due to injury Gene Set

From HPO Gene-Disease Associations

genes associated with the painless fractures due to injury phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hepatic abscesses due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

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

cellulitis due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

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

decreased sweating due to autonomic dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased sweating due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

intermittent episodes of respiratory insufficiency due to muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the intermittent episodes of respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

orthostatic hypotension due to autonomic dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the orthostatic hypotension due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

{hepatic fibrosis susceptibility due to schistosoma mansoni infection} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hepatic fibrosis susceptibility due to schistosoma mansoni infection} phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to thrombomodulin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to thrombomodulin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

bleeding disorder due to p2rx1 defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the bleeding disorder due to p2rx1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.

encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Gene Set

From OMIM Gene-Disease Associations

genes associated with the encephalopahty, lethal, due to defective mitochondrial peroxisomal fission phenotype from the curated OMIM Gene-Disease Associations dataset.

hypercholesterolemia, due to ligand-defective apo b Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypercholesterolemia, due to ligand-defective apo b phenotype from the curated OMIM Gene-Disease Associations dataset.

disordered steroidogenesis due to cytochrome p450 oxidoreductase Gene Set

From OMIM Gene-Disease Associations

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

hemorrhagic diathesis due to 'antithrombin' pittsburgh Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemorrhagic diathesis due to 'antithrombin' pittsburgh phenotype from the curated OMIM Gene-Disease Associations dataset.

hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

omphalocele due to duplication of 1p31.3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the omphalocele due to duplication of 1p31.3 phenotype from the curated OMIM Gene-Disease Associations dataset.

gigantism due to ghrf hypersecretion Gene Set

From OMIM Gene-Disease Associations

genes associated with the gigantism due to ghrf hypersecretion phenotype from the curated OMIM Gene-Disease Associations dataset.

pseudohyperkalemia, familial, 2, due to red cell leak Gene Set

From OMIM Gene-Disease Associations

genes associated with the pseudohyperkalemia, familial, 2, due to red cell leak phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia, familial, due to decreased release of plat Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia, familial, due to decreased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset.

{hypercholesterolemia, familial, due to ldlr defect, modifier of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hypercholesterolemia, familial, due to ldlr defect, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.

{drug-induced liver injury due to flucloxacillin} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {drug-induced liver injury due to flucloxacillin} phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to activated protein c resistance Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to activated protein c resistance phenotype from the curated OMIM Gene-Disease Associations dataset.

?male pseudohermaphroditism due to defective lh Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?male pseudohermaphroditism due to defective lh phenotype from the curated OMIM Gene-Disease Associations dataset.

hydrocephalus due to aqueductal stenosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the hydrocephalus due to aqueductal stenosis phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to elevated hrg Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to elevated hrg phenotype from the curated OMIM Gene-Disease Associations dataset.

thalassemia due to hb lepore Gene Set

From OMIM Gene-Disease Associations

genes associated with the thalassemia due to hb lepore phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

methylmalonic aciduria due to transcobalamin receptor defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria due to transcobalamin receptor defect phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia, x-linked, due to factor ix defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia, x-linked, due to factor ix defect phenotype from the curated OMIM Gene-Disease Associations dataset.

{thrombophilia, susceptibility to, due to factor v leiden} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {thrombophilia, susceptibility to, due to factor v leiden} phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to defect in mapbp-interacting protein Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to defect in mapbp-interacting protein phenotype from the curated OMIM Gene-Disease Associations dataset.

goiter, familial, due to ttf-1 defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the goiter, familial, due to ttf-1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to thrombin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to thrombin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperfibrinolysis, familial, due to increased release of plat Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperfibrinolysis, familial, due to increased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset.

hemosiderosis, systemic, due to aceruloplasminemia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemosiderosis, systemic, due to aceruloplasminemia phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) pathway from the Wikipathways 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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, 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, 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.

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, 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.

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, 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.

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 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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, 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.

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.

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.

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.

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.

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.

anemia Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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, 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.

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.

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.

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.

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.

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.

?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, 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.

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, 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, 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.

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.

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.

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.

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.

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.

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.

Adenine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glutamate formiminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypoglycemia with deficiency of glycogen synthetase in the liver Gene Set

From ClinVar Gene-Phenotype Associations

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

LEUKOCYTE ADHESION DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

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

Follicle-stimulating hormone deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

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

Ganglioside sialidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

C1q deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Interferon gamma receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Platelet glycoprotein IV deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

N-acetylaspartate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Adenylosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Triosephosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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