Combined malonic and methylmalonic acidemia

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Results for "Combined malonic and methylmalonic acidemia": 1003 gene sets

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Combined malonic and methylmalonic acidemia Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Combined malonic and methylmalonic acidemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Combined malonic and methylmalonic acidemia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined malonic and methylmalonic acidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined malonic and methylmalonic acidemia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined malonic and methylmalonic acidemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined malonic and methylmalonic aciduria Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined malonic and methylmalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
combined malonic and methylmalonic aciduria Gene Set From OMIM Gene-Disease Associations genes associated with the combined malonic and methylmalonic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.
Combined Malonic And Methylmalonic Aciduria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Combined Malonic And Methylmalonic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
mental retardation, x-linked 3 (methylmalonic acidemia and homocysteinemia, cblx type ) Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 3 (methylmalonic acidemia and homocysteinemia, cblx type ) phenotype from the curated OMIM Gene-Disease Associations dataset.
Methylmalonic acidemia and homocysteinemia cblX type Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Methylmalonic acidemia and homocysteinemia cblX type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
CblC combined methylmalonic aciduria and homocystinuria Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the CblC combined methylmalonic aciduria and homocystinuria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic acidemia with homocystinuria Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Methylmalonic acidemia with homocystinuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Methylmalonic acidemia with homocystinuria cblD Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Methylmalonic acidemia with homocystinuria cblD phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Methylmalonic acidemia with homocystinuria Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic acidemia with homocystinuria from the curated CTD Gene-Disease Associations dataset.
Methylmalonic acidemia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic acidemia from the curated CTD Gene-Disease Associations dataset.
methylmalonic acidemia Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease methylmalonic acidemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
methylmalonic acidemia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease methylmalonic acidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
methylmalonic acidemia Gene Set From HPO Gene-Disease Associations genes associated with the methylmalonic acidemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Methylmalonic Acidemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Methylmalonic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Methylmalonic Acidemia Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Methylmalonic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Methylmalonic acidemia Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Methylmalonic acidemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Methylmalonic acidemia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Methylmalonic acidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Methylmalonic acidemia cblA type Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Methylmalonic acidemia cblA type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Methylmalonic acidemia cblB type Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Methylmalonic acidemia cblB type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Methylmalonic acidemia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic acidemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic acidemia due to transcobalamin receptor defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic acidemia due to transcobalamin receptor defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
malonic acid Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical malonic acid from the curated CTD Gene-Chemical Interactions dataset.
Malonic aciduria Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Malonic aciduria from the curated CTD Gene-Disease Associations dataset.
2-{4-[(2s)-2-[({[(1s)-1-Carboxy-2-Phenylethyl]Amino}Carbonyl)Amino]-3-Oxo-3-(Pentylamino)Propyl]Phenoxy}Malonic Acid Gene Set From DrugBank Drug Targets interacting proteins for the 2-{4-[(2s)-2-[({[(1s)-1-Carboxy-2-Phenylethyl]Amino}Carbonyl)Amino]-3-Oxo-3-(Pentylamino)Propyl]Phenoxy}Malonic Acid drug from the curated DrugBank Drug Targets dataset.
Malonic acid Gene Set From DrugBank Drug Targets interacting proteins for the Malonic acid drug from the curated DrugBank Drug Targets dataset.
Malonic acid Gene Set From HMDB Metabolites of Enzymes interacting proteins for the Malonic acid metabolite from the curated HMDB Metabolites of Enzymes dataset.
Malonic semialdehyde Gene Set From HMDB Metabolites of Enzymes interacting proteins for the Malonic semialdehyde metabolite from the curated HMDB Metabolites of Enzymes dataset.
Malonic Aciduria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Malonic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
MALONIC ACID Gene Set From DGIdb Drug Targets 2026 interacting proteins for the MALONIC ACID drug from theDGIdb Drug Targets 2026 dataset.
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE Gene Set From ClinVar Gene-Phenotype Associations genes associated with the METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Methylmalonic Aciduria and Homocystinuria, CblD Type Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblD Type from the curated CTD Gene-Disease Associations dataset.
Methylmalonic Aciduria and Homocystinuria, CblF Type Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblF Type from the curated CTD Gene-Disease Associations dataset.
methylmalonic aciduria and homocystinuria type cblc Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease methylmalonic aciduria and homocystinuria type cblc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
Methylmalonic aciduria and homocystinuria type D protein Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Methylmalonic aciduria and homocystinuria type D protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.
methylmalonic aciduria and homocystinuria, cbld type Gene Set From OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria and homocystinuria, cbld type phenotype from the curated OMIM Gene-Disease Associations dataset.
methylmalonic aciduria and homocystinuria, cblf type Gene Set From OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria and homocystinuria, cblf type phenotype from the curated OMIM Gene-Disease Associations dataset.
methylmalonic aciduria and homocystinuria, cblc type Gene Set From OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria and homocystinuria, cblc type phenotype from the curated OMIM Gene-Disease Associations dataset.
methylmalonic aciduria and homocystinuria, cblj type Gene Set From OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria and homocystinuria, cblj type phenotype from the curated OMIM Gene-Disease Associations dataset.
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Gene Set From Reactome Pathways 2014 proteins participating in the Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway from the Reactome Pathways dataset.
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Gene Set From Reactome Pathways 2014 proteins participating in the Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway from the Reactome Pathways dataset.
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Gene Set From Reactome Pathways 2014 proteins participating in the Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway from the Reactome Pathways dataset.
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Gene Set From Reactome Pathways 2014 proteins participating in the Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway from the Reactome Pathways dataset.
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Gene Set From Reactome Pathways 2014 proteins participating in the Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway from the Reactome Pathways dataset.
Methylmalonic aciduria and homocystinuria type cblD Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Methylmalonic aciduria and homocystinuria type cblD in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Methylmalonic aciduria and homocystinuria type cblC Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Methylmalonic aciduria and homocystinuria type cblC in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Methylmalonic aciduria and homocystinuria type cblF Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Methylmalonic aciduria and homocystinuria type cblF in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Methylmalonic aciduria and homocystinuria Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria and homocystinuria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
METHYLMALONIC ACIDURIA AND HOMOCYSTINU Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the METHYLMALONIC ACIDURIA AND HOMOCYSTINU phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined cellular and humoral immune defects with granulomas Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined cellular and humoral immune defects with granulomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined d-2- and l-2-hydroxyglutaric aciduria Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
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.
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined deficiency of factor V and factor VIII, 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined deficiency of sialidase AND beta galactosidase Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset.
Combined Cellular And Humoral Immune Defects With Granulomas Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Combined Cellular And Humoral Immune Defects With Granulomas from the curated CTD Gene-Disease Associations dataset.
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset.
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.
combined t cell and b cell immunodeficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease combined t cell and b cell immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
combined t cell and b cell immunodeficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease combined t cell and b cell immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
tic; combined vocal and multiple motor; tourette syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease tic; combined vocal and multiple motor; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
crohn's disease and sarcoidosis (combined) Gene Set From GAD Gene-Disease Associations genes associated with the disease crohn's disease and sarcoidosis (combined) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
Schizophrenia, bipolar disorder and depression (combined) Gene Set From GWAS Catalog SNP-Phenotype Associations genes associated with the Schizophrenia, bipolar disorder and depression (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined) Gene Set From GWAS Catalog SNP-Phenotype Associations genes associated with the Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) Gene Set From GWAS Catalog SNP-Phenotype Associations genes associated with the Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
Sclerosing cholangitis and ulcerative colitis (combined) Gene Set From GWAS Catalog SNP-Phenotype Associations genes associated with the Sclerosing cholangitis and ulcerative colitis (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
Bipolar disorder and major depressive disorder (combined) Gene Set From GWAS Catalog SNP-Phenotype Associations genes associated with the Bipolar disorder and major depressive disorder (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
combined d-2- and l-2-hydroxyglutaric aciduria Gene Set From OMIM Gene-Disease Associations genes associated with the combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.
factor v and factor viii, combined deficiency of Gene Set From OMIM Gene-Disease Associations genes associated with the factor v and factor viii, combined deficiency of phenotype from the curated OMIM Gene-Disease Associations dataset.
combined cellular and humoral immune defects with granulomas Gene Set From OMIM Gene-Disease Associations genes associated with the combined cellular and humoral immune defects with granulomas phenotype from the curated OMIM Gene-Disease Associations dataset.
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set From OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated OMIM Gene-Disease Associations dataset.
apoa-i and apoc-iii deficiency, combined Gene Set From OMIM Gene-Disease Associations genes associated with the apoa-i and apoc-iii deficiency, combined phenotype from the curated OMIM Gene-Disease Associations dataset.
combined factor v and viii deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the combined factor v and viii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
Combined Pulmonary Fibrosis And Emphysema Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Combined Pulmonary Fibrosis And Emphysema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Combined Hepatocellular Carcinoma And Cholangiocarcinoma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Combined Hepatocellular Carcinoma And Cholangiocarcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
C7 And C6 Deficiency, Combined Subtotal Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease C7 And C6 Deficiency, Combined Subtotal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Factor V And Factor Viii, Combined Deficiency Of Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Factor V And Factor Viii, Combined Deficiency Of in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Combined D-2- And L-2-Hydroxyglutaric Aciduria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Combined D-2- And L-2-Hydroxyglutaric Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Combined Cellular And Humoral Immune Defects With Granulomas Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Combined Cellular And Humoral Immune Defects With Granulomas in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Combined T cell and B cell immunodeficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Combined T cell and B cell immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Combined D-2- and L-2-hydroxyglutaric aciduria Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined D-2- and L-2-hydroxyglutaric aciduria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined T cell and B cell immunodeficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined T cell and B cell immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined cellular and humoral immune defects with granulomas Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined cellular and humoral immune defects with granulomas in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined deficiency of sialidase AND beta galactosidase Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency and megaloblastic anemia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency and megaloblastic anemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined osteogenesis imperfecta and Ehlers-Danlos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Liver injury in combined anti-retroviral and anti-tuberculosis drug-treated HIV with tuberculosis Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Liver injury in combined anti-retroviral and anti-tuberculosis drug-treated HIV with tuberculosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Lean body mass and age at menarche (combined) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Lean body mass and age at menarche (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Schizophrenia, bipolar disorder and depression (combined) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Schizophrenia, bipolar disorder and depression (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Sclerosing cholangitis and ulcerative colitis (combined) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sclerosing cholangitis and ulcerative colitis (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
ISOVALERIC ACIDEMIA, TYPE I Gene Set From ClinVar Gene-Phenotype Associations genes associated with the ISOVALERIC ACIDEMIA, TYPE I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glutaric acidemia IIA Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Glutaric acidemia IIA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glutaric acidemia IIC Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Glutaric acidemia IIC phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glutaric acidemia IIB Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Glutaric acidemia IIB phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Propionic acidemia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Propionic acidemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Acidemia, isovaleric Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Acidemia, isovaleric from the curated CTD Gene-Disease Associations dataset.
Propionic Acidemia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Propionic Acidemia from the curated CTD Gene-Disease Associations dataset.
isovaleric acidemia Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease isovaleric acidemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
propionic acidemia Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease propionic acidemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
organic acidemia Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease organic acidemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
propionic acidemia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease propionic acidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
organic acidemia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease organic acidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
isovaleric acidemia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease isovaleric acidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
acidemia Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term acidemia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
phenylpyruvic acidemia Gene Set From HPO Gene-Disease Associations genes associated with the phenylpyruvic acidemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
exercise-induced lactic acidemia Gene Set From HPO Gene-Disease Associations genes associated with the exercise-induced lactic acidemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
intermittent lactic acidemia Gene Set From HPO Gene-Disease Associations genes associated with the intermittent lactic acidemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
glutaric acidemia Gene Set From HPO Gene-Disease Associations genes associated with the glutaric acidemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
acidemia Gene Set From MPO Gene-Phenotype Associations gene mutations causing the acidemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
isovaleric acidemia Gene Set From OMIM Gene-Disease Associations genes associated with the isovaleric acidemia phenotype from the curated OMIM Gene-Disease Associations dataset.
glutaric acidemia iia Gene Set From OMIM Gene-Disease Associations genes associated with the glutaric acidemia iia phenotype from the curated OMIM Gene-Disease Associations dataset.
glutaric acidemia iic Gene Set From OMIM Gene-Disease Associations genes associated with the glutaric acidemia iic phenotype from the curated OMIM Gene-Disease Associations dataset.
glutaric acidemia iib Gene Set From OMIM Gene-Disease Associations genes associated with the glutaric acidemia iib phenotype from the curated OMIM Gene-Disease Associations dataset.
Propionic Acidemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Propionic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Exercise-Induced Lactic Acidemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Exercise-Induced Lactic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Intermittent Lactic Acidemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Intermittent Lactic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hyperpipecolic Acidemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hyperpipecolic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Glutaric Acidemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Glutaric Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Isovaleric Acidemia, Type I Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Isovaleric Acidemia, Type I in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
L-2-Hydroxyglutaric Acidemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease L-2-Hydroxyglutaric Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Lactic Acidemia Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lactic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Dicarboxylic Acidemia Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Dicarboxylic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Glutaric Acidemia Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Glutaric Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Phenylpyruvic Acidemia Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Phenylpyruvic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
acidemia Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the acidemia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
Isovaleric acidemia Gene Set From Reactome Pathways 2024 proteins participating in the Isovaleric acidemia pathway from the Reactome Pathways 2024 dataset.
Organic acidemia Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Organic acidemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Isovaleric acidemia Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Isovaleric acidemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Propionic acidemia Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Propionic acidemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Glutaric acidemia I Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Glutaric acidemia I from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Organic acidemia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Organic acidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Propionic acidemia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Propionic acidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Isovaleric acidemia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Isovaleric acidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Glutaric acidemia I Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Glutaric acidemia I in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Glutaric acidemia type 3 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Glutaric acidemia type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Glutaric acidemia IIa Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glutaric acidemia IIa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Isovaleric acidemia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Isovaleric acidemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Propionic acidemia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Propionic acidemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glutaric acidemia IIc Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glutaric acidemia IIc phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glutaric acidemia IIb Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glutaric acidemia IIb phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glutaric acidemia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glutaric acidemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
METHYLMALONIC ACIDURIA, mut(-) TYPE Gene Set From ClinVar Gene-Phenotype Associations genes associated with the METHYLMALONIC ACIDURIA, mut(-) TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Methylmalonic aciduria cblA type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Methylmalonic aciduria cblA type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
METHYLMALONIC ACIDURIA, mut(0) TYPE Gene Set From ClinVar Gene-Phenotype Associations genes associated with the METHYLMALONIC ACIDURIA, mut(0) TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Methylmalonic aciduria, cblD type, variant 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Methylmalonic aciduria, cblD type, variant 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Methylmalonic aciduria cblB type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Methylmalonic aciduria cblB type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Methylmalonic aciduria cblA type Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic aciduria cblA type 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.
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.
Methylmalonic aciduria cblB type Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic aciduria cblB type from the curated CTD Gene-Disease Associations dataset.
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) from the curated CTD Gene-Disease Associations dataset.
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) from the curated CTD Gene-Disease Associations dataset.
homocysteine; vitamin b12; holotranscobalamin; methylmalonic acid Gene Set From GAD Gene-Disease Associations genes associated with the disease homocysteine; vitamin b12; holotranscobalamin; methylmalonic acid in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
methylmalonic Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term methylmalonic in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
(S)-Methylmalonic acid semialdehyde Gene Set From HMDB Metabolites of Enzymes interacting proteins for the (S)-Methylmalonic acid semialdehyde metabolite from the curated HMDB Metabolites of Enzymes dataset.
Methylmalonic acid Gene Set From HMDB Metabolites of Enzymes interacting proteins for the Methylmalonic acid metabolite from the curated HMDB Metabolites of Enzymes dataset.
methylmalonic aciduria Gene Set From HPO Gene-Disease Associations genes associated with the methylmalonic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) Gene Set From OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) phenotype from the curated OMIM Gene-Disease Associations dataset.
methylmalonic aciduria, mut(0) type Gene Set From OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria, mut(0) type phenotype from the curated OMIM Gene-Disease Associations dataset.
methylmalonic aciduria, vitamin b12-responsive Gene Set From OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria, vitamin b12-responsive phenotype from the curated OMIM Gene-Disease Associations dataset.
methylmalonic aciduria, cbld type, variant 2 Gene Set From OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria, cbld type, variant 2 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.
mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene Set From OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 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.
Defective MMAB causes methylmalonic aciduria type cblB Gene Set From Reactome Pathways 2014 proteins participating in the Defective MMAB causes methylmalonic aciduria type cblB pathway from the Reactome Pathways dataset.
Defective MMAA causes methylmalonic aciduria type cblA Gene Set From Reactome Pathways 2014 proteins participating in the Defective MMAA causes methylmalonic aciduria type cblA pathway from the Reactome Pathways dataset.
Defective MUT causes methylmalonic aciduria mut type Gene Set From Reactome Pathways 2014 proteins participating in the Defective MUT causes methylmalonic aciduria mut type pathway from the Reactome Pathways dataset.
Defective CD320 causes methylmalonic aciduria Gene Set From Reactome Pathways 2014 proteins participating in the Defective CD320 causes methylmalonic aciduria pathway from the Reactome Pathways dataset.
Methylmalonic Aciduria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Methylmalonic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
methylmalonic aciduria Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the methylmalonic aciduria phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
increased methylmalonic acid level Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the increased methylmalonic acid level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
increased circulating methylmalonic acid level Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the increased circulating methylmalonic acid level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
Methylmalonic acid Gene Set From MW Enzyme Metabolite Associations interacting proteins for Methylmalonic acid metabolite from the MW Gene Metabolite Associations dataset.
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
METHYLMALONIC ACIDU Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the METHYLMALONIC ACIDU phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic aciduria Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic aciduria of the cblA complementation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria of the cblA complementation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
METHYLMALONIC ACID Gene Set From DGIdb Drug Targets 2026 interacting proteins for the METHYLMALONIC ACID drug from theDGIdb Drug Targets 2026 dataset.
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds Gene Set From Reactome Pathways 2014 proteins participating in the Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways dataset.
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 9 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined oxidative phosphorylation deficiency 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined oxidative phosphorylation deficiency 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined oxidative phosphorylation deficiency 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined oxidative phosphorylation deficiency 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined oxidative phosphorylation deficiency 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
X-linked severe combined immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
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.
Immunodeficiency 18, severe combined immunodeficiency variant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 18, severe combined immunodeficiency variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
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.
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pituitary hormone deficiency, combined Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined oxidative phosphorylation deficiency 18 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined oxidative phosphorylation deficiency 17 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined oxidative phosphorylation deficiency 16 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined oxidative phosphorylation deficiency 14 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined oxidative phosphorylation deficiency 13 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined oxidative phosphorylation deficiency 12 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined oxidative phosphorylation deficiency 11 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined oxidative phosphorylation deficiency 10 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined oxidative phosphorylation deficiency 22 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined oxidative phosphorylation deficiency 20 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined oxidative phosphorylation deficiency 21 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined 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.
Combined immunodeficiency, X-linked Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined immunodeficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Vitamin k-dependent clotting factors, combined deficiency of, 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Vitamin k-dependent clotting factors, combined deficiency of, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe combined immunodeficiency, atypical Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, atypical phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe combined immunodeficiency disease Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
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.
Hyperlipidemia, familial combined Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperlipidemia, familial combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
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.
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pituitary hormone deficiency, combined, 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pituitary hormone deficiency, combined, 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Anesthetics, Combined Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Anesthetics, Combined from the curated CTD Gene-Chemical Interactions dataset.
Contraceptives, Oral, Combined Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Contraceptives, Oral, Combined from the curated CTD Gene-Chemical Interactions dataset.
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset.
Hyperlipidemia, Familial Combined Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hyperlipidemia, Familial Combined from the curated CTD Gene-Disease Associations dataset.
Severe Combined Immunodeficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency from the curated CTD Gene-Disease Associations dataset.
Combined Oxidative Phosphorylation Deficiency 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 3 from the curated CTD Gene-Disease Associations dataset.
Combined Oxidative Phosphorylation Deficiency 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 2 from the curated CTD Gene-Disease Associations dataset.
Lipase deficiency combined Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Lipase deficiency combined from the curated CTD Gene-Disease Associations dataset.
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive from the curated CTD Gene-Disease Associations dataset.
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 from the curated CTD Gene-Disease Associations dataset.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 from the curated CTD Gene-Disease Associations dataset.
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 from the curated CTD Gene-Disease Associations dataset.
Pituitary Hormone Deficiency, Combined, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 1 from the curated CTD Gene-Disease Associations dataset.
Pituitary Hormone Deficiency, Combined, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 2 from the curated CTD Gene-Disease Associations dataset.
Pituitary Hormone Deficiency, Combined, 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 4 from the curated CTD Gene-Disease Associations dataset.
Combined Saposin Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Combined Saposin Deficiency from the curated CTD Gene-Disease Associations dataset.
Combined Oxidative Phosphorylation Deficiency 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 1 from the curated CTD Gene-Disease Associations dataset.
Combined Oxidative Phosphorylation Deficiency 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 5 from the curated CTD Gene-Disease Associations dataset.
Combined Oxidative Phosphorylation Deficiency 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 4 from the curated CTD Gene-Disease Associations dataset.
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset.
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation from the curated CTD Gene-Disease Associations dataset.
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.
X-Linked Combined Immunodeficiency Diseases Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease X-Linked Combined Immunodeficiency Diseases from the curated CTD Gene-Disease Associations dataset.
severe combined immunodeficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease severe combined immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
familial combined hyperlipidemia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial combined hyperlipidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
lung combined type small cell carcinoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease lung combined type small cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
severe combined immunodeficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
combined thymoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease combined thymoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
hyperlipidemia, familial combined Gene Set From GAD Gene-Disease Associations genes associated with the disease hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hyperlipidemia, familial combined; insulin resistance; mixed hyperlipidemia Gene Set From GAD Gene-Disease Associations genes associated with the disease hyperlipidemia, familial combined; insulin resistance; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
coronary artery disease; hyperlipidemia, familial combined Gene Set From GAD Gene-Disease Associations genes associated with the disease coronary artery disease; hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
familial combined hyperlipidemia Gene Set From GAD Gene-Disease Associations genes associated with the disease familial combined hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hyperlipidemia, familial combined; mixed hyperlipidemia Gene Set From GAD Gene-Disease Associations genes associated with the disease hyperlipidemia, familial combined; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
familial combined hyperlipidaemia. Gene Set From GAD Gene-Disease Associations genes associated with the disease familial combined hyperlipidaemia. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
combined bone mass Gene Set From GAD Gene-Disease Associations genes associated with the disease combined bone mass in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
fam hyperbetalipoproteinaemia; hyperlipidemia, familial combined; hyperlipoproteinemia type ii; hypertriglyceridemia; mixed hyperlipidemia Gene Set From GAD Gene-Disease Associations genes associated with the disease fam hyperbetalipoproteinaemia; hyperlipidemia, familial combined; hyperlipoproteinemia type ii; hypertriglyceridemia; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
lymphopenia; scid; severe combined immunodeficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease lymphopenia; scid; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
cardiovascular diseases; coronary artery disease; hyperlipidemia, familial combined; mixed hyperlipidemia Gene Set From GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; coronary artery disease; hyperlipidemia, familial combined; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
atherosclerosis; hyperlipidemia, familial combined Gene Set From GAD Gene-Disease Associations genes associated with the disease atherosclerosis; hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
x-linked severe combined immunodeficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease x-linked severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
coronary artery disease; hyperlipidemia, familial combined; metabolic syndrome x; mixed hyperlipidemia Gene Set From GAD Gene-Disease Associations genes associated with the disease coronary artery disease; hyperlipidemia, familial combined; metabolic syndrome x; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
blood pressure; hyperlipidemia, familial combined Gene Set From GAD Gene-Disease Associations genes associated with the disease blood pressure; hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
combined pituitary hormone deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease combined pituitary hormone deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
immunologic deficiency syndromes; severe combined immunodeficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease immunologic deficiency syndromes; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
cardiovascular diseases; hyperlipidemia, familial combined Gene Set From GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
combined Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term combined in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
Familial combined hyperlipidaemia_Blood monocyte_GSE11393 Gene Set From GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Familial combined hyperlipidaemia_Blood monocyte_GSE11393 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 Gene Set From GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
Familial combined hyperlipidaemia_lymphoblast_GSE1010 Gene Set From GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Familial combined hyperlipidaemia_lymphoblast_GSE1010 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
Attention deficit hyperactivity disorder (combined symptoms) Gene Set From GWAS Catalog SNP-Phenotype Associations genes associated with the Attention deficit hyperactivity disorder (combined symptoms) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
combined hyperlipidemia Gene Set From HPO Gene-Disease Associations genes associated with the combined hyperlipidemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
severe combined immunodeficiency Gene Set From HPO Gene-Disease Associations genes associated with the severe combined immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
combined immunodeficiency Gene Set From HPO Gene-Disease Associations genes associated with the combined immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Hyperlipidemia, Familial Combined Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Hyperlipidemia, Familial Combined phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Severe Combined Immunodeficiency Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Severe Combined Immunodeficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
combined c6/c7 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the combined c6/c7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
severe combined immunodeficiency due to il2 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
combined oxidative phosphorylation deficiency 20 Gene Set From OMIM Gene-Disease Associations genes associated with the combined oxidative phosphorylation deficiency 20 phenotype from the curated OMIM Gene-Disease Associations dataset.
vitamin k-dependent clotting factors, combined deficiency of, 1 Gene Set From OMIM Gene-Disease Associations genes associated with the vitamin k-dependent clotting factors, combined deficiency of, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
vitamin k-dependent clotting factors, combined deficiency of, 2 Gene Set From OMIM Gene-Disease Associations genes associated with the vitamin k-dependent clotting factors, combined deficiency of, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
combined hyperlipidemia, familial Gene Set From OMIM Gene-Disease Associations genes associated with the combined hyperlipidemia, familial phenotype from the curated OMIM Gene-Disease Associations dataset.
severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive Gene Set From OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive phenotype from the curated OMIM Gene-Disease Associations dataset.
severe combined immunodeficiency due to ada deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
c1r/c1s deficiency, combined Gene Set From OMIM Gene-Disease Associations genes associated with the c1r/c1s deficiency, combined phenotype from the curated OMIM Gene-Disease Associations dataset.
?combined oxidative phosphorylation deficiency 19 Gene Set From OMIM Gene-Disease Associations genes associated with the ?combined oxidative phosphorylation deficiency 19 phenotype from the curated OMIM Gene-Disease Associations dataset.
?combined oxidative phosphorylation deficiency 16 Gene Set From OMIM Gene-Disease Associations genes associated with the ?combined oxidative phosphorylation deficiency 16 phenotype from the curated OMIM Gene-Disease Associations dataset.
pituitary hormone deficiency, combined, 4 Gene Set From OMIM Gene-Disease Associations genes associated with the pituitary hormone deficiency, combined, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.
combined oxidative phosphorylation deficiency 18 Gene Set From OMIM Gene-Disease Associations genes associated with the combined oxidative phosphorylation deficiency 18 phenotype from the curated OMIM Gene-Disease Associations dataset.
combined oxidative phosphorylation deficiency 17 Gene Set From OMIM Gene-Disease Associations genes associated with the combined oxidative phosphorylation deficiency 17 phenotype from the curated OMIM Gene-Disease Associations dataset.
combined oxidative phosphorylation deficiency 15 Gene Set From OMIM Gene-Disease Associations genes associated with the combined oxidative phosphorylation deficiency 15 phenotype from the curated OMIM Gene-Disease Associations dataset.
combined oxidative phosphorylation deficiency 14 Gene Set From OMIM Gene-Disease Associations genes associated with the combined oxidative phosphorylation deficiency 14 phenotype from the curated OMIM Gene-Disease Associations dataset.
combined oxidative phosphorylation deficiency 13 Gene Set From OMIM Gene-Disease Associations genes associated with the combined oxidative phosphorylation deficiency 13 phenotype from the curated OMIM Gene-Disease Associations dataset.
combined oxidative phosphorylation deficiency 12 Gene Set From OMIM Gene-Disease Associations genes associated with the combined oxidative phosphorylation deficiency 12 phenotype from the curated OMIM Gene-Disease Associations dataset.
combined oxidative phosphorylation deficiency 11 Gene Set From OMIM Gene-Disease Associations genes associated with the combined oxidative phosphorylation deficiency 11 phenotype from the curated OMIM Gene-Disease Associations dataset.
combined oxidative phosphorylation deficiency 10 Gene Set From OMIM Gene-Disease Associations genes associated with the combined oxidative phosphorylation deficiency 10 phenotype from the curated OMIM Gene-Disease Associations dataset.
combined immunodeficiency, x-linked, moderate Gene Set From OMIM Gene-Disease Associations genes associated with the combined immunodeficiency, x-linked, moderate phenotype from the curated OMIM Gene-Disease Associations dataset.
severe combined immunodeficiency, b cell-negative Gene Set From OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, b cell-negative phenotype from the curated OMIM Gene-Disease Associations dataset.
severe combined immunodeficiency, athabascan type Gene Set From OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, athabascan type phenotype from the curated OMIM Gene-Disease Associations dataset.
combined sap deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the combined sap deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
pituitary hormone deficiency, combined, 1 Gene Set From OMIM Gene-Disease Associations genes associated with the pituitary hormone deficiency, combined, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
pituitary hormone deficiency, combined, 2 Gene Set From OMIM Gene-Disease Associations genes associated with the pituitary hormone deficiency, combined, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
pituitary hormone deficiency, combined, 3 Gene Set From OMIM Gene-Disease Associations genes associated with the pituitary hormone deficiency, combined, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
pituitary hormone deficiency, combined, 5 Gene Set From OMIM Gene-Disease Associations genes associated with the pituitary hormone deficiency, combined, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
pituitary hormone deficiency, combined, 6 Gene Set From OMIM Gene-Disease Associations genes associated with the pituitary hormone deficiency, combined, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.
{hyperlipidemia, familial combined, susceptibility to} Gene Set From OMIM Gene-Disease Associations genes associated with the {hyperlipidemia, familial combined, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.
lipase deficiency, combined Gene Set From OMIM Gene-Disease Associations genes associated with the lipase deficiency, combined phenotype from the curated OMIM Gene-Disease Associations dataset.
severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type Gene Set From OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type phenotype from the curated OMIM Gene-Disease Associations dataset.
combined oxidative phosphorylation deficiency 9 Gene Set From OMIM Gene-Disease Associations genes associated with the combined oxidative phosphorylation deficiency 9 phenotype from the curated OMIM Gene-Disease Associations dataset.
combined oxidative phosphorylation deficiency 8 Gene Set From OMIM Gene-Disease Associations genes associated with the combined oxidative phosphorylation deficiency 8 phenotype from the curated OMIM Gene-Disease Associations dataset.
combined oxidative phosphorylation deficiency 3 Gene Set From OMIM Gene-Disease Associations genes associated with the combined oxidative phosphorylation deficiency 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
combined oxidative phosphorylation deficiency 2 Gene Set From OMIM Gene-Disease Associations genes associated with the combined oxidative phosphorylation deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
combined oxidative phosphorylation deficiency 1 Gene Set From OMIM Gene-Disease Associations genes associated with the combined oxidative phosphorylation deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
combined oxidative phosphorylation deficiency 7 Gene Set From OMIM Gene-Disease Associations genes associated with the combined oxidative phosphorylation deficiency 7 phenotype from the curated OMIM Gene-Disease Associations dataset.
combined oxidative phosphorylation deficiency 6 Gene Set From OMIM Gene-Disease Associations genes associated with the combined oxidative phosphorylation deficiency 6 phenotype from the curated OMIM Gene-Disease Associations dataset.
combined oxidative phosphorylation deficiency 5 Gene Set From OMIM Gene-Disease Associations genes associated with the combined oxidative phosphorylation deficiency 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
combined oxidative phosphorylation deficiency 4 Gene Set From OMIM Gene-Disease Associations genes associated with the combined oxidative phosphorylation deficiency 4 phenotype from the curated OMIM Gene-Disease Associations dataset.
severe combined immunodeficiency, x-linked Gene Set From OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.
?combined oxidative phosphorylation deficiency 21 Gene Set From OMIM Gene-Disease Associations genes associated with the ?combined oxidative phosphorylation deficiency 21 phenotype from the curated OMIM Gene-Disease Associations dataset.
?combined oxidative phosphorylation deficiency 22 Gene Set From OMIM Gene-Disease Associations genes associated with the ?combined oxidative phosphorylation deficiency 22 phenotype from the curated OMIM Gene-Disease Associations dataset.
hyperlipidemia, combined, 2 Gene Set From OMIM Gene-Disease Associations genes associated with the hyperlipidemia, combined, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
Combined Oxidative Phosphorylation Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Combined Oxidative Phosphorylation Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Severe Combined Immunodeficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Combined Immunodeficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Combined Immunodeficiency Disease Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Combined Immunodeficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Combined Molybdoflavoprotein Enzyme Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Combined Molybdoflavoprotein Enzyme Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Obsolete Combined Hyperlipidemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Obsolete Combined Hyperlipidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Combined Saposin Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Combined Saposin Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Subacute Combined Degeneration Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Subacute Combined Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Primary Combined Hyperlipidemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Primary Combined Hyperlipidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Oi-Eds Combined Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Oi-Eds Combined Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Athabaskan Severe Combined Immunodeficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Athabaskan Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Combined Large Cell Neuroendocrine Carcinoma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Combined Large Cell Neuroendocrine Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Combined Small Cell Carcinoma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Combined Small Cell Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Combined Type Small Cell Lung Cancer Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Combined Type Small Cell Lung Cancer in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Lipase Deficiency Combined Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Lipase Deficiency Combined in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Other Combined Immunodeficiencies Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Other Combined Immunodeficiencies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Combined Oxidative Phosphorylation Deficiency Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Combined Oxidative Phosphorylation Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Hyperlipidemia, Familial Combined, Susceptibility To Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hyperlipidemia, Familial Combined, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Severe combined immunodeficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Combined immunodeficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 12 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Combined oxidative phosphorylation deficiency 12 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Combined oxidative phosphorylation deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
X-linked severe combined immunodeficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 1 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Combined oxidative phosphorylation deficiency 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 12 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined immunodeficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Severe combined immunodeficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
X-linked severe combined immunodeficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined saposin deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined saposin deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Familial combined hyperlipidemia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial combined hyperlipidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 4 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined thymoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined thymoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 3 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 52 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 52 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 39 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 39 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 6 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 32 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 32 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 21 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 21 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined deficiency of vitamin K-dependent clotting factors 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined deficiency of vitamin K-dependent clotting factors 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Hereditary combined deficiency of vitamin K-dependent clotting factors Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary combined deficiency of vitamin K-dependent clotting factors in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 54 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 54 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 30 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 30 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 10 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 24 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 24 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 31 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 31 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 29 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 29 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 34 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 34 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 49 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 49 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 43 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 43 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 19 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 9 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 7 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 20 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 20 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined deficiency of vitamin K-dependent clotting factors 2 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined deficiency of vitamin K-dependent clotting factors 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 18 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 18 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 22 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 22 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 23 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 23 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 35 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 35 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 13 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 27 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 27 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Lung combined large cell neuroendocrine carcinoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Lung combined large cell neuroendocrine carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Lung combined type small cell carcinoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Lung combined type small cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 26 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 26 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 15 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 15 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 40 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 40 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 14 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 14 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 5 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 33 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 33 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 11 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 16 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 16 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 8 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 51 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 51 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 44 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 44 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 25 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 25 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 53 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 53 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 17 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 17 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 28 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 28 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation deficiency 2 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Combined oxidative phosphorylation deficiency 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined oxidative phosphorylation defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency disease Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hepatoencephalopathy due to combined oxidative phosphorylation defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hepatoencephalopathy due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to DCLRE1C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DCLRE1C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Athabaskan severe combined immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Athabaskan severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Fatal mitochondrial disease due to combined oxidative phosphorylation defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Fatal mitochondrial disease due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined molybdoflavoprotein enzyme deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined molybdoflavoprotein enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined pituitary hormone deficiencies Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined pituitary hormone deficiencies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to JAK3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
X-linked severe combined immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to CD3gamma deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to CD3gamma deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to partial RAG1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to partial RAG1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to ZAP70 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to ZAP70 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
ZAP70-Related Severe Combined Immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the ZAP70-Related Severe Combined Immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined PSAP deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined PSAP deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Rare combined vascular malformation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Rare combined vascular malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined oxidative phosphorylation deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined oxidative phosphorylation deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to LRBA deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to LRBA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to STK4 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to STK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to STIM1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to STIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CARD11 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARD11 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to DOCK8 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to DOCK8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CTPS1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to ORAI1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to ORAI1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Non-acquired combined pituitary hormone deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Non-acquired combined pituitary hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined Pituitary Hormone Deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined Pituitary Hormone Deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CARMIL2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to moesin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to moesin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to DNA-PKcs deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CORO1A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to OX40 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to OX40 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to IKK2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to MALT1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to MALT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to LCK deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LCK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
TFRC-related combined immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the TFRC-related combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to LAT deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LAT deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to GINS1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to GINS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Gout (combined type) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Gout (combined type) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Bone mineral density change response to combined chemotherapy in acute lymphoblastic leukemia Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Bone mineral density change response to combined chemotherapy in acute lymphoblastic leukemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Parental longevity (combined parental attained age, Martingale residuals) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Parental longevity (combined parental attained age, Martingale residuals) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Parental longevity (combined parental age at death) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Parental longevity (combined parental age at death) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
PMC5473732-mmc4.xlsx-TFM_sex-combined-Unnamed_11_AR Gene Set From Rummagene Transcription Factor Associations 2026 target genes of the PMC5473732-mmc4.xlsx-TFM_sex-combined-Unnamed_11_AR transcription factor from the Rummagene Transcription Factor Associations 2026 dataset.
basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression Gene Set From Biocarta Pathways proteins participating in the basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression pathway from the Biocarta Pathways dataset.
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Gene Set From ClinVar Gene-Phenotype Associations genes associated with the BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Coloboma, uveal, with cleft lip and palate and mental retardation Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Diabetes mellitus AND insipidus with optic atrophy AND deafness Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Diabetes mellitus AND insipidus with optic atrophy AND deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH from the curated CTD Gene-Disease Associations dataset.
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation from the curated CTD Gene-Disease Associations dataset.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset.
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset.
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux from the curated CTD Gene-Disease Associations dataset.
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations from the curated CTD Gene-Disease Associations dataset.
postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations Gene Set From GAD Gene-Disease Associations genes associated with the disease postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anxiety and hostility and depression Gene Set From GAD Gene-Disease Associations genes associated with the disease anxiety and hostility and depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy Gene Set From GAD Gene-Disease Associations genes associated with the disease charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
frontotemporal dementia and pick-like 3r and 4r tauopathy Gene Set From GAD Gene-Disease Associations genes associated with the disease frontotemporal dementia and pick-like 3r and 4r tauopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations Gene Set From GAD Gene-Disease Associations genes associated with the disease adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
squamous cell carcinomas of the head and neck (scchn) and breast cancer Gene Set From GAD Gene-Disease Associations genes associated with the disease squamous cell carcinomas of the head and neck (scchn) and breast cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
vitamins and metabolites in pregnant women and neonates Gene Set From GAD Gene-Disease Associations genes associated with the disease vitamins and metabolites in pregnant women and neonates in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
racemase and epimerase activity, acting on amino acids and derivatives Gene Set From GO Molecular Function Annotations 2015 genes performing the racemase and epimerase activity, acting on amino acids and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset.
racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set From GO Molecular Function Annotations 2015 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset.
leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Gene Set From OMIM Gene-Disease Associations genes associated with the leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation phenotype from the curated OMIM Gene-Disease Associations dataset.
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Gene Set From OMIM Gene-Disease Associations genes associated with the microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset.
hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set From OMIM Gene-Disease Associations genes associated with the hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly, progressive, seizures, and cerebral and cerebellar atrophy phenotype from the curated OMIM Gene-Disease Associations dataset.
craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies Gene Set From OMIM Gene-Disease Associations genes associated with the craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Set From Reactome Pathways 2014 proteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways dataset.
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Set From Reactome Pathways 2014 proteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways dataset.
PI and PC transport between ER and Golgi membranes Gene Set From Reactome Pathways 2014 proteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways dataset.
Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Set From Reactome Pathways 2014 proteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways dataset.
FGFR1c and Klotho ligand binding and activation Gene Set From Reactome Pathways 2014 proteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways dataset.
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set From Reactome Pathways 2014 proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways dataset.
Synthesis and processing of ENV and VPU Gene Set From Reactome Pathways 2014 proteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways dataset.
Synthesis and interconversion of nucleotide di- and triphosphates Gene Set From Reactome Pathways 2014 proteins participating in the Synthesis and interconversion of nucleotide di- and triphosphates pathway from the Reactome Pathways dataset.
SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) Gene Set From WikiPathways Pathways 2014 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.
SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) Gene Set From WikiPathways Pathways 2014 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset.
SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) Gene Set From WikiPathways Pathways 2014 proteins participating in the SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.
High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set From GO Molecular Function Annotations 2023 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2023 dataset.
SRF and miRs in smooth muscle differentiation and proliferation Gene Set From WikiPathways Pathways 2024 proteins participating in the SRF and miRs in smooth muscle differentiation and proliferation pathway from the WikiPathways Pathways 2024 dataset.
SREBF and miR33 in cholesterol and lipid homeostasis Gene Set From WikiPathways Pathways 2024 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis pathway from the WikiPathways Pathways 2024 dataset.
RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis Gene Set From WikiPathways Pathways 2024 proteins participating in the RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis pathway from the WikiPathways Pathways 2024 dataset.
ApoE and miR 146 in inflammation and atherosclerosis Gene Set From WikiPathways Pathways 2024 proteins participating in the ApoE and miR 146 in inflammation and atherosclerosis pathway from the WikiPathways Pathways 2024 dataset.
Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine Gene Set From WikiPathways Pathways 2024 proteins participating in the Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine pathway from the WikiPathways Pathways 2024 dataset.
Somatroph axis GH and its relationship to dietary restriction and aging Gene Set From WikiPathways Pathways 2024 proteins participating in the Somatroph axis GH and its relationship to dietary restriction and aging pathway from the WikiPathways Pathways 2024 dataset.
Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms Gene Set From WikiPathways Pathways 2024 proteins participating in the Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms pathway from the WikiPathways Pathways 2024 dataset.
GLP 1 from intestine and pancreas and role in glucose homeostasis Gene Set From WikiPathways Pathways 2024 proteins participating in the GLP 1 from intestine and pancreas and role in glucose homeostasis pathway from the WikiPathways Pathways 2024 dataset.
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Set From Reactome Pathways 2024 proteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways 2024 dataset.
Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) Gene Set From Reactome Pathways 2024 proteins participating in the Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) pathway from the Reactome Pathways 2024 dataset.
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Set From Reactome Pathways 2024 proteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways 2024 dataset.
FGFR1c and Klotho ligand binding and activation Gene Set From Reactome Pathways 2024 proteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways 2024 dataset.
MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Gene Set From Reactome Pathways 2024 proteins participating in the MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis pathway from the Reactome Pathways 2024 dataset.
Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Set From Reactome Pathways 2024 proteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways 2024 dataset.
PI and PC transport between ER and Golgi membranes Gene Set From Reactome Pathways 2024 proteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways 2024 dataset.
PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 Gene Set From Reactome Pathways 2024 proteins participating in the PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 pathway from the Reactome Pathways 2024 dataset.
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Gene Set From Reactome Pathways 2024 proteins participating in the Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks pathway from the Reactome Pathways 2024 dataset.
Synthesis and processing of ENV and VPU Gene Set From Reactome Pathways 2024 proteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways 2024 dataset.
Transcriptional and post-translational regulation of MITF-M expression and activity Gene Set From Reactome Pathways 2024 proteins participating in the Transcriptional and post-translational regulation of MITF-M expression and activity pathway from the Reactome Pathways 2024 dataset.
Transport of bile salts and organic acids, metal ions and amine compounds Gene Set From Reactome Pathways 2024 proteins participating in the Transport of bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways 2024 dataset.
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set From Reactome Pathways 2024 proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways 2024 dataset.
racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set From GO Molecular Function Annotations 2025 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2025 dataset.
Vertebral anomalies and variable endocrine and T-cell dysfunction Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Vertebral anomalies and variable endocrine and T-cell dysfunction in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Vertebral anomalies and variable endocrine and T-cell dysfunction Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Vertebral anomalies and variable endocrine and T-cell dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Regulation of gene expression and signal transduction in immune and stress responses Gene Set From CM4AI U2OS Cell Map Protein Localization Assemblies proteins comprising Regulation of gene expression and signal transduction in immune and stress responses assembly using integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Basic cell groups and regions Gene Set From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Basic cell groups and regions relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
head and face region of M1 Gene Set From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles genes with high or low expression in head and face region of M1 relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
telomeres telomerase cellular aging and immortality Gene Set From Biocarta Pathways proteins participating in the telomeres telomerase cellular aging and immortality pathway from the Biocarta Pathways dataset.
mcalpain and friends in cell motility Gene Set From Biocarta Pathways proteins participating in the mcalpain and friends in cell motility pathway from the Biocarta Pathways dataset.
role of ppar-gamma coactivators in obesity and thermogenesis Gene Set From Biocarta Pathways proteins participating in the role of ppar-gamma coactivators in obesity and thermogenesis pathway from the Biocarta Pathways dataset.
il12 and stat4 dependent signaling pathway in th1 development Gene Set From Biocarta Pathways proteins participating in the il12 and stat4 dependent signaling pathway in th1 development pathway from the Biocarta Pathways dataset.
hypoxia and p53 in the cardiovascular system Gene Set From Biocarta Pathways proteins participating in the hypoxia and p53 in the cardiovascular system pathway from the Biocarta Pathways dataset.
lissencephaly gene (lis1) in neuronal migration and development Gene Set From Biocarta Pathways proteins participating in the lissencephaly gene (lis1) in neuronal migration and development pathway from the Biocarta Pathways dataset.
role of erbb2 in signal transduction and oncology Gene Set From Biocarta Pathways proteins participating in the role of erbb2 in signal transduction and oncology pathway from the Biocarta Pathways dataset.
corticosteroids and cardioprotection Gene Set From Biocarta Pathways proteins participating in the corticosteroids and cardioprotection pathway from the Biocarta Pathways dataset.
cyclins and cell cycle regulation Gene Set From Biocarta Pathways proteins participating in the cyclins and cell cycle regulation pathway from the Biocarta Pathways dataset.
mechanism of acetaminophen activity and toxicity Gene Set From Biocarta Pathways proteins participating in the mechanism of acetaminophen activity and toxicity pathway from the Biocarta Pathways dataset.
nfat and hypertrophy of the heart Gene Set From Biocarta Pathways proteins participating in the nfat and hypertrophy of the heart pathway from the Biocarta Pathways dataset.
acetylation and deacetylation of rela in nucleus Gene Set From Biocarta Pathways proteins participating in the acetylation and deacetylation of rela in nucleus pathway from the Biocarta Pathways dataset.
thrombin signaling and protease-activated receptors Gene Set From Biocarta Pathways proteins participating in the thrombin signaling and protease-activated receptors pathway from the Biocarta Pathways dataset.
antigen processing and presentation Gene Set From Biocarta Pathways proteins participating in the antigen processing and presentation pathway from the Biocarta Pathways dataset.
stathmin and breast cancer resistance to antimicrotubule agents Gene Set From Biocarta Pathways proteins participating in the stathmin and breast cancer resistance to antimicrotubule agents pathway from the Biocarta Pathways dataset.
role of ß-arrestins in the activation and targeting of map kinases Gene Set From Biocarta Pathways proteins participating in the role of ß-arrestins in the activation and targeting of map kinases pathway from the Biocarta Pathways dataset.
cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway Gene Set From Biocarta Pathways proteins participating in the cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway pathway from the Biocarta Pathways dataset.
role of pi3k subunit p85 in regulation of actin organization and cell migration Gene Set From Biocarta Pathways proteins participating in the role of pi3k subunit p85 in regulation of actin organization and cell migration pathway from the Biocarta Pathways dataset.
btg family proteins and cell cycle regulation Gene Set From Biocarta Pathways proteins participating in the btg family proteins and cell cycle regulation pathway from the Biocarta Pathways dataset.
control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) Gene Set From Biocarta Pathways proteins participating in the control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) pathway from the Biocarta Pathways dataset.
endocytotic role of ndk phosphins and dynamin Gene Set From Biocarta Pathways proteins participating in the endocytotic role of ndk phosphins and dynamin pathway from the Biocarta Pathways dataset.
regulation of eif-4e and p70s6 kinase Gene Set From Biocarta Pathways proteins participating in the regulation of eif-4e and p70s6 kinase pathway from the Biocarta Pathways dataset.
estrogen responsive protein efp controls cell cycle and breast tumors growth Gene Set From Biocarta Pathways proteins participating in the estrogen responsive protein efp controls cell cycle and breast tumors growth pathway from the Biocarta Pathways dataset.
vegf hypoxia and angiogenesis Gene Set From Biocarta Pathways proteins participating in the vegf hypoxia and angiogenesis pathway from the Biocarta Pathways dataset.
yaci and bcma stimulation of b cell immune responses Gene Set From Biocarta Pathways proteins participating in the yaci and bcma stimulation of b cell immune responses pathway from the Biocarta Pathways dataset.
lck and fyn tyrosine kinases in initiation of tcr activation Gene Set From Biocarta Pathways proteins participating in the lck and fyn tyrosine kinases in initiation of tcr activation pathway from the Biocarta Pathways dataset.
hiv-1 nef: negative effector of fas and tnf Gene Set From Biocarta Pathways proteins participating in the hiv-1 nef: negative effector of fas and tnf pathway from the Biocarta Pathways dataset.
nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells Gene Set From Biocarta Pathways proteins participating in the nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells pathway from the Biocarta Pathways dataset.
ucalpain and friends in cell spread Gene Set From Biocarta Pathways proteins participating in the ucalpain and friends in cell spread pathway from the Biocarta Pathways dataset.
ionomycin and phorbal ester signaling pathway Gene Set From Biocarta Pathways proteins participating in the ionomycin and phorbal ester signaling pathway pathway from the Biocarta Pathways dataset.
carm1 and regulation of the estrogen receptor Gene Set From Biocarta Pathways proteins participating in the carm1 and regulation of the estrogen receptor pathway from the Biocarta Pathways dataset.
phosphoinositides and their downstream targets Gene Set From Biocarta Pathways proteins participating in the phosphoinositides and their downstream targets pathway from the Biocarta Pathways dataset.
melanocyte development and pigmentation pathway Gene Set From Biocarta Pathways proteins participating in the melanocyte development and pigmentation pathway pathway from the Biocarta Pathways dataset.
akap95 role in mitosis and chromosome dynamics Gene Set From Biocarta Pathways proteins participating in the akap95 role in mitosis and chromosome dynamics pathway from the Biocarta Pathways dataset.
transcription factor creb and its extracellular signals Gene Set From Biocarta Pathways proteins participating in the transcription factor creb and its extracellular signals pathway from the Biocarta Pathways dataset.
visceral fat deposits and the metabolic syndrome Gene Set From Biocarta Pathways proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset.
the igf-1 receptor and longevity Gene Set From Biocarta Pathways proteins participating in the the igf-1 receptor and longevity pathway from the Biocarta Pathways dataset.
cdc25 and chk1 regulatory pathway in response to dna damage Gene Set From Biocarta Pathways proteins participating in the cdc25 and chk1 regulatory pathway in response to dna damage pathway from the Biocarta Pathways dataset.
human cytomegalovirus and map kinase pathways Gene Set From Biocarta Pathways proteins participating in the human cytomegalovirus and map kinase pathways pathway from the Biocarta Pathways dataset.
influence of ras and rho proteins on g1 to s transition Gene Set From Biocarta Pathways proteins participating in the influence of ras and rho proteins on g1 to s transition pathway from the Biocarta Pathways dataset.
proteolysis and signaling pathway of notch Gene Set From Biocarta Pathways proteins participating in the proteolysis and signaling pathway of notch pathway from the Biocarta Pathways dataset.
apoptotic dna-fragmentation and tissue homeostasis Gene Set From Biocarta Pathways proteins participating in the apoptotic dna-fragmentation and tissue homeostasis pathway from the Biocarta Pathways dataset.
ion channels and their functional role in vascular endothelium Gene Set From Biocarta Pathways proteins participating in the ion channels and their functional role in vascular endothelium pathway from the Biocarta Pathways dataset.
alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease Gene Set From Biocarta Pathways proteins participating in the alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease pathway from the Biocarta Pathways dataset.
fosb gene expression and drug abuse Gene Set From Biocarta Pathways proteins participating in the fosb gene expression and drug abuse pathway from the Biocarta Pathways dataset.
links between pyk2 and map kinases Gene Set From Biocarta Pathways proteins participating in the links between pyk2 and map kinases pathway from the Biocarta Pathways dataset.
opposing roles of aif in apoptosis and cell survival Gene Set From Biocarta Pathways proteins participating in the opposing roles of aif in apoptosis and cell survival pathway from the Biocarta Pathways dataset.
degradation of the rar and rxr by the proteasome Gene Set From Biocarta Pathways proteins participating in the degradation of the rar and rxr by the proteasome pathway from the Biocarta Pathways dataset.
cadmium induces dna synthesis and proliferation in macrophages Gene Set From Biocarta Pathways proteins participating in the cadmium induces dna synthesis and proliferation in macrophages pathway from the Biocarta Pathways dataset.
erk and pi-3 kinase are necessary for collagen binding in corneal epithelia Gene Set From Biocarta Pathways proteins participating in the erk and pi-3 kinase are necessary for collagen binding in corneal epithelia pathway from the Biocarta Pathways dataset.
role of brca1 brca2 and atr in cancer susceptibility Gene Set From Biocarta Pathways proteins participating in the role of brca1 brca2 and atr in cancer susceptibility pathway from the Biocarta Pathways dataset.
chrebp regulation by carbohydrates and camp Gene Set From Biocarta Pathways proteins participating in the chrebp regulation by carbohydrates and camp pathway from the Biocarta Pathways dataset.
pten dependent cell cycle arrest and apoptosis Gene Set From Biocarta Pathways proteins participating in the pten dependent cell cycle arrest and apoptosis pathway from the Biocarta Pathways dataset.
induction of apoptosis through dr3 and dr4/5 death receptors Gene Set From Biocarta Pathways proteins participating in the induction of apoptosis through dr3 and dr4/5 death receptors pathway from the Biocarta Pathways dataset.
CIITA-18437201-Raji B cells and iDC-human Gene Set From ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the CIITA-18437201-Raji B cells and iDC-human transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.
FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN Gene Set From ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.
VDR-23401126-LCL-AND-THP1-HUMAN Gene Set From ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the VDR-23401126-LCL-AND-THP1-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.
YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene Set From ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.
BACH1-22875853-HELA-AND-SCP4-HUMAN Gene Set From ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the BACH1-22875853-HELA-AND-SCP4-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.
EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene Set From ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.
Hypothyroidism, central, and testicular enlargement Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, central, and testicular enlargement phenotype from the curated ClinVar Gene-Phenotype Associations 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.
Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Foveal hypoplasia and presenile cataract syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Arthrogryposis, mental retardation, and seizures Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis, mental retardation, and seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Vater association with macrocephaly and ventriculomegaly Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Vater association with macrocephaly and ventriculomegaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Renal hamartomas nephroblastomatosis and fetal gigantism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Renal hamartomas nephroblastomatosis and fetal gigantism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 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.
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.
Microtia, hearing impairment, and cleft palate Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microtia, hearing impairment, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ichthyosis, spastic quadriplegia, and mental retardation Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypermanganesemia with dystonia, polycythemia and cirrhosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypermanganesemia with dystonia, polycythemia and cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sinoatrial node dysfunction and deafness Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sinoatrial node dysfunction and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Gene Set From ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation with language impairment and autistic features Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation with language impairment and autistic features phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Warts, hypogammaglobulinemia, infections, and myelokathexis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Warts, hypogammaglobulinemia, infections, and myelokathexis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Fibular hypoplasia and complex brachydactyly Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Fibular hypoplasia and complex brachydactyly 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.
Mental retardation, anterior maxillary protrusion, and strabismus Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, anterior maxillary protrusion, and strabismus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Infantile convulsions and paroxysmal choreoathetosis, familial Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Infantile convulsions and paroxysmal choreoathetosis, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Short stature, optic nerve atrophy, and pelger-huet anomaly Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Short stature, optic nerve atrophy, and pelger-huet anomaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alzheimer disease, familial, 3, with spastic paraparesis and apraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Insulin-resistant diabetes mellitus AND acanthosis nigricans Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Insulin-resistant diabetes mellitus AND acanthosis nigricans phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Craniofacial anomalies and anterior segment dysgenesis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness with labyrinthine aplasia microtia and microdontia (LAMM) Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness with labyrinthine aplasia microtia and microdontia (LAMM) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple Cutaneous and Mucosal Venous Malformations Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple Cutaneous and Mucosal Venous Malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Neuropathy hereditary sensory and autonomic type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neuropathy hereditary sensory and autonomic type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly with mental retardation and digital anomalies Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with mental retardation and digital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Growth retardation, developmental delay, coarse facies, and early death Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Growth retardation, developmental delay, coarse facies, and early death phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Inflammatory skin and bowel disease, neonatal, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Inflammatory skin and bowel disease, neonatal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 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.
Facial dysmorphism, immunodeficiency, livedo, and short stature Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Facial dysmorphism, immunodeficiency, livedo, and short stature phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, congenital heart defects, and posterior embryotoxon Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Infertility associated with multi-tailed spermatozoa and excessive DNA Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Infertility associated with multi-tailed spermatozoa and excessive DNA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Iris coloboma with ptosis, hypertelorism, and mental retardation Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Iris coloboma with ptosis, hypertelorism, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rigidity and multifocal seizure syndrome, lethal neonatal Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alopecia, neurologic defects, and endocrinopathy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mullerian aplasia and hyperandrogenism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mullerian aplasia and hyperandrogenism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Knuckle pads, deafness AND leukonychia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease and frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multicentric osteolysis, nodulosis and arthropathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multicentric osteolysis, nodulosis and arthropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stapes ankylosis with broad thumb and toes Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stapes ankylosis with broad thumb and toes phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Corneal dystrophy and perceptive deafness Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Corneal dystrophy and perceptive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair 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.
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome and Noonan-related syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome and Noonan-related syndrome 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.
Neuropathy, hereditary motor and sensory, Okinawa type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neuropathy, hereditary motor and sensory, Okinawa type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly, short stature, and impaired glucose metabolism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, short stature, and impaired glucose metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hemorrhagic destruction of the brain, subependymal calcification, and cataracts phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Jervell and Lange-Nielsen syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Macrocephaly, alopecia, cutis laxa, and scoliosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly, alopecia, cutis laxa, and scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypomyelination and Congenital Cataract Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypomyelination and Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hirschsprung disease, cardiac defects, and autonomic dysfunction Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hirschsprung disease, cardiac defects, and autonomic dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cardiomyopathy dilated with woolly hair and keratoderma Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cardiomyopathy dilated with woolly hair and keratoderma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Arthrogryposis, renal dysfunction, and cholestasis 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis, renal dysfunction, and cholestasis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cataract and cardiomyopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cataract and cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Inflammatory skin and bowel disease, neonatal Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Inflammatory skin and bowel disease, neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cataract, microphthalmia and nystagmus Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cataract, microphthalmia and nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Foveal hypoplasia and anterior segment dysgenesis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and anterior segment dysgenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bone fragility with contractures, arterial rupture, and deafness Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bone fragility with contractures, arterial rupture, and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
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.
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary Paragangliomas and Pheochromocytomas Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary Paragangliomas and Pheochromocytomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
X-linked rolandic epilepsy with mental retardation and speech dyspraxia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the X-linked rolandic epilepsy with mental retardation and speech dyspraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Band-like calcification with simplified gyration and polymicrogyria Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Band-like calcification with simplified gyration and polymicrogyria 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.
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly, epilepsy, and diabetes syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, epilepsy, and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebellar ataxia and hypogonadotropic hypogonadism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia and hypogonadotropic hypogonadism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Epilepsy, X-linked, with variable learning disabilities and behavior disorders Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, X-linked, with variable learning disabilities and behavior disorders phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Optic atrophy and cataract, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Optic atrophy and cataract, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cataract, juvenile, with microcornea and glucosuria Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cataract, juvenile, with microcornea and glucosuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII Gene Set From ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebellar ataxia, deafness, and narcolepsy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, deafness, and narcolepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Juvenile macular degeneration and hypotrichosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Juvenile macular degeneration and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary motor and sensory neuropathy with optic atrophy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary motor and sensory neuropathy with optic atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene Set From ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary leiomyomatosis and renal cell cancer Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary leiomyomatosis and renal cell cancer 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.
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly, hiatal hernia and nephrotic syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, hiatal hernia and nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, congenital alopecia and nail dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pancreatic agenesis and congenital heart disease Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pancreatic agenesis and congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Jervell and Lange-Nielsen syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcornea, myopic chorioretinal atrophy, and telecanthus Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcornea, myopic chorioretinal atrophy, and telecanthus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glomerulocystic kidney disease with hyperuricemia and isosthenuria Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Glomerulocystic kidney disease with hyperuricemia and isosthenuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cutis Gyrata syndrome of Beare and Stevenson Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cutis Gyrata syndrome of Beare and Stevenson phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly and chorioretinopathy, autosomal recessive, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly and chorioretinopathy, autosomal recessive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aniridia, cerebellar ataxia, and mental retardation Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aniridia, cerebellar ataxia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
X-linked hereditary motor and sensory neuropathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the X-linked hereditary motor and sensory neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Craniosynostosis and dental anomalies Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Craniosynostosis and dental anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mycobacterial and viral infections, susceptibility to, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mycobacterial and viral infections, susceptibility to, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Obesity, hyperphagia, and developmental delay Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Obesity, hyperphagia, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebroretinal microangiopathy with calcifications and cysts Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebroretinal microangiopathy with calcifications and cysts phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Generalized epilepsy and paroxysmal dyskinesia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Generalized epilepsy and paroxysmal dyskinesia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI Gene Set From ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alacrima, achalasia, and mental retardation syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly, normal intelligence and immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, normal intelligence and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Calcification of joints and arteries Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Calcification of joints and arteries phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypotrichosis and recurrent skin vesicles Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis and recurrent skin vesicles phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Epidermolysa bullosa simplex and limb girdle muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Psychomotor retardation, epilepsy, and craniofacial dysmorphism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Psychomotor retardation, epilepsy, and craniofacial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Epiphyseal dysplasia, multiple, with myopia and conductive deafness Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Epiphyseal dysplasia, multiple, with myopia and conductive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cutaneous telangiectasia and cancer syndrome, familial Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene Set From ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pineal hyperplasia AND diabetes mellitus syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pineal hyperplasia AND diabetes mellitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Morbid obesity and spermatogenic failure Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Morbid obesity and spermatogenic failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Skeletal defects, genital hypoplasia, and mental retardation Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Skeletal defects, genital hypoplasia, and mental retardation 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.
Striatal necrosis, bilateral, and progressive polyneuropathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Striatal necrosis, bilateral, and progressive polyneuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary sensory and autonomic neuropathy type IIA Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary sensory and autonomic neuropathy type IIA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopia, high, with cataract and vitreoretinal degeneration Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopia, high, with cataract and vitreoretinal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Camptodactyly, tall stature, and hearing loss syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Camptodactyly, tall stature, and hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Corneal fragility keratoglobus, blue sclerae AND joint hypermobility phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pyogenic arthritis, pyoderma gangrenosum and acne Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pyogenic arthritis, pyoderma gangrenosum and acne phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Growth deficiency and mental retardation with facial dysmorphism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital Cataracts, Facial Dysmorphism, and Neuropathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital Cataracts, Facial Dysmorphism, and Neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, cochlear, with myopia and intellectual impairment Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, cochlear, with myopia and intellectual impairment phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
X-linked mental retardation with short stature, hypogonadism and abnormal gait Gene Set From ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation with short stature, hypogonadism and abnormal gait phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly, postnatal progressive, with seizures and brain atrophy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, postnatal progressive, with seizures and brain atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
calcium- and calmodulin-dependent protein kinase complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the calcium- and calmodulin-dependent protein kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
mrna cleavage and polyadenylation specificity factor complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the mrna cleavage and polyadenylation specificity factor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
mitochondrial sorting and assembly machinery complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the mitochondrial sorting and assembly machinery complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
calcium- and calmodulin-dependent protein kinase complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the calcium- and calmodulin-dependent protein kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
cortical layer of collagen and cuticulin-based cuticle extracellular matrix Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the cortical layer of collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
collagen and cuticulin-based cuticle extracellular matrix Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
mrna cleavage and polyadenylation specificity factor complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the mrna cleavage and polyadenylation specificity factor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
collagen and cuticulin-based cuticle extracellular matrix part Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix part cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
mitochondrial sorting and assembly machinery complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the mitochondrial sorting and assembly machinery complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
TRBP containing complex (DICER, RPL7A, EIF6, MOV10 and subunits of the 60S ribosomal particle) Gene Set From CORUM Protein Complexes proteins in the TRBP containing complex (DICER, RPL7A, EIF6, MOV10 and subunits of the 60S ribosomal particle) protein complex from the CORUM Protein Complexes dataset.
NRD complex (Nucleosome remodeling and deacetylation complex) Gene Set From CORUM Protein Complexes proteins in the NRD complex (Nucleosome remodeling and deacetylation complex) protein complex from the CORUM Protein Complexes dataset.
6S methyltransferase and RG-containing Sm proteins complex Gene Set From CORUM Protein Complexes proteins in the 6S methyltransferase and RG-containing Sm proteins complex protein complex from the CORUM Protein Complexes dataset.
Remodeling and spacing factor (RSF) complex Gene Set From CORUM Protein Complexes proteins in the Remodeling and spacing factor (RSF) complex protein complex from the CORUM Protein Complexes dataset.
PBAF complex (Polybromo- and BAF containing complex) Gene Set From CORUM Protein Complexes proteins in the PBAF complex (Polybromo- and BAF containing complex) protein complex from the CORUM Protein Complexes dataset.
Cleavage and polyadenylation factor (CPSF) Gene Set From CORUM Protein Complexes proteins in the Cleavage and polyadenylation factor (CPSF) protein complex from the CORUM Protein Complexes dataset.
Apoptosis- and splicing-associated protein complex (ASAP-L), SAP18-RNPS1-Acinus-L Gene Set From CORUM Protein Complexes proteins in the Apoptosis- and splicing-associated protein complex (ASAP-L), SAP18-RNPS1-Acinus-L protein complex from the CORUM Protein Complexes dataset.
Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial Gene Set From CORUM Protein Complexes proteins in the Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.
Nucleic and chromatin Fanconi complex Gene Set From CORUM Protein Complexes proteins in the Nucleic and chromatin Fanconi complex protein complex from the CORUM Protein Complexes dataset.
Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial Gene Set From CORUM Protein Complexes proteins in the Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.
Apoptosis- and splicing-associated protein complex (ASAP-S), SAP18-RNPS1-Acinus-S Gene Set From CORUM Protein Complexes proteins in the Apoptosis- and splicing-associated protein complex (ASAP-S), SAP18-RNPS1-Acinus-S protein complex from the CORUM Protein Complexes dataset.
ATP-utilizing chromatin assembly and remodeling factor (hACF) complex Gene Set From CORUM Protein Complexes proteins in the ATP-utilizing chromatin assembly and remodeling factor (hACF) complex protein complex from the CORUM Protein Complexes dataset.
20S methylosome and RG-containing Sm protein complex Gene Set From CORUM Protein Complexes proteins in the 20S methylosome and RG-containing Sm protein complex protein complex from the CORUM Protein Complexes dataset.
Amino Acids, Peptides, and Proteins Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Amino Acids, Peptides, and Proteins from the curated CTD Gene-Chemical Interactions dataset.
Bile Acids and Salts Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Bile Acids and Salts from the curated CTD Gene-Chemical Interactions dataset.
Prime and Bond NT Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Prime and Bond NT from the curated CTD Gene-Chemical Interactions dataset.
drospirenone and ethinyl estradiol combination Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical drospirenone and ethinyl estradiol combination from the curated CTD Gene-Chemical Interactions dataset.
Hypophosphatemic Rickets And Hyperparathyroidism Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypophosphatemic Rickets And Hyperparathyroidism from the curated CTD Gene-Disease Associations dataset.
Fibular hypoplasia and complex brachydactyly Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Fibular hypoplasia and complex brachydactyly from the curated CTD Gene-Disease Associations dataset.
Synovitis granulomatous with uveitis and cranial neuropathies Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Synovitis granulomatous with uveitis and cranial neuropathies from the curated CTD Gene-Disease Associations dataset.
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS from the curated CTD Gene-Disease Associations dataset.
Hereditary Sensory and Motor Neuropathy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Sensory and Motor Neuropathy from the curated CTD Gene-Disease Associations dataset.
Preaxial deficiency, postaxial polydactyly and hypospadias Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset.
OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS from the curated CTD Gene-Disease Associations dataset.
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia from the curated CTD Gene-Disease Associations dataset.
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia from the curated CTD Gene-Disease Associations dataset.
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp from the curated CTD Gene-Disease Associations dataset.
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis from the curated CTD Gene-Disease Associations dataset.
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma from the curated CTD Gene-Disease Associations dataset.
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema from the curated CTD Gene-Disease Associations dataset.
Microtia, Hearing Impairment, And Cleft Palate Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microtia, Hearing Impairment, And Cleft Palate from the curated CTD Gene-Disease Associations dataset.
OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS from the curated CTD Gene-Disease Associations dataset.
Neuropathy, Hereditary Sensory And Autonomic, Type IIB Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type IIB from the curated CTD Gene-Disease Associations dataset.
Acromegaloid features, overgrowth, cleft palate, and hernia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Acromegaloid features, overgrowth, cleft palate, and hernia from the curated CTD Gene-Disease Associations dataset.
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome from the curated CTD Gene-Disease Associations dataset.
46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS from the curated CTD Gene-Disease Associations dataset.
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease from the curated CTD Gene-Disease Associations dataset.
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 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.
Craniosynostosis, anal anomalies, and porokeratosis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Craniosynostosis, anal anomalies, and porokeratosis from the curated CTD Gene-Disease Associations dataset.
Sacral defect and anterior sacral meningocele Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Sacral defect and anterior sacral meningocele from the curated CTD Gene-Disease Associations dataset.
Classical Lissencephalies and Subcortical Band Heterotopias Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Classical Lissencephalies and Subcortical Band Heterotopias from the curated CTD Gene-Disease Associations dataset.
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness from the curated CTD Gene-Disease Associations dataset.
Optic atrophy 1 and deafness Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Optic atrophy 1 and deafness from the curated CTD Gene-Disease Associations dataset.
Neuropathy, hereditary motor and sensory, Russe type Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, Russe type from the curated CTD Gene-Disease Associations dataset.
Blepharophimosis, Ptosis, and Epicanthus Inversus Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Blepharophimosis, Ptosis, and Epicanthus Inversus from the curated CTD Gene-Disease Associations dataset.
Hypotrichosis And Recurrent Skin Vesicles Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypotrichosis And Recurrent Skin Vesicles from the curated CTD Gene-Disease Associations dataset.
Signs and Symptoms, Digestive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Signs and Symptoms, Digestive from the curated CTD Gene-Disease Associations dataset.
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia from the curated CTD Gene-Disease Associations dataset.
Head and Neck Neoplasms Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Head and Neck Neoplasms from the curated CTD Gene-Disease Associations dataset.
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES from the curated CTD Gene-Disease Associations dataset.
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects from the curated CTD Gene-Disease Associations dataset.
Cataract, Juvenile, With Microcornea And Glucosuria Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Juvenile, With Microcornea And Glucosuria from the curated CTD Gene-Disease Associations dataset.
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER from the curated CTD Gene-Disease Associations dataset.
Venous Malformations, Multiple Cutaneous and Mucosal Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Venous Malformations, Multiple Cutaneous and Mucosal from the curated CTD Gene-Disease Associations dataset.
BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA from the curated CTD Gene-Disease Associations dataset.
Postoperative Nausea and Vomiting Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Postoperative Nausea and Vomiting 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.
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells from the curated CTD Gene-Disease Associations dataset.
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset.
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY from the curated CTD Gene-Disease Associations dataset.
Keratitis, Ichthyosis, and Deafness (KID) Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Keratitis, Ichthyosis, and Deafness (KID) Syndrome from the curated CTD Gene-Disease Associations dataset.
Bifid Nose With Or Without Anorectal And Renal Anomalies Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Bifid Nose With Or Without Anorectal And Renal Anomalies from the curated CTD Gene-Disease Associations dataset.
Congenital Cataracts, Facial Dysmorphism, And Neuropathy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Cataracts, Facial Dysmorphism, And Neuropathy from the curated CTD Gene-Disease Associations dataset.
Corneal dystrophy and perceptive deafness Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Corneal dystrophy and perceptive deafness from the curated CTD Gene-Disease Associations dataset.
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY from the curated CTD Gene-Disease Associations dataset.
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Skeletal Dysplasia, and Abducens Palsy from the curated CTD Gene-Disease Associations dataset.
Hypopituitarism and septooptic 'dysplasia' Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypopituitarism and septooptic 'dysplasia' from the curated CTD Gene-Disease Associations dataset.
PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL from the curated CTD Gene-Disease Associations dataset.
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps from the curated CTD Gene-Disease Associations dataset.
Aplasia of Lacrimal and Salivary Glands Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Aplasia of Lacrimal and Salivary Glands from the curated CTD Gene-Disease Associations dataset.
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA from the curated CTD Gene-Disease Associations dataset.
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities from the curated CTD Gene-Disease Associations dataset.
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY from the curated CTD Gene-Disease Associations dataset.
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria from the curated CTD Gene-Disease Associations dataset.
Calcification of Joints and Arteries Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Calcification of Joints and Arteries from the curated CTD Gene-Disease Associations dataset.
CHOANAL ATRESIA AND LYMPHEDEMA Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease CHOANAL ATRESIA AND LYMPHEDEMA from the curated CTD Gene-Disease Associations dataset.
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis from the curated CTD Gene-Disease Associations dataset.
Hereditary Motor And Sensory Neuropathy, Type IIC Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy, Type IIC from the curated CTD Gene-Disease Associations dataset.
Asthma, Nasal Polyps, And Aspirin Intolerance Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Asthma, Nasal Polyps, And Aspirin Intolerance from the curated CTD Gene-Disease Associations dataset.
Neoplasms, Germ Cell and Embryonal Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neoplasms, Germ Cell and Embryonal from the curated CTD Gene-Disease Associations dataset.
Hereditary Motor And Sensory Neuropathy VI Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy VI from the curated CTD Gene-Disease Associations dataset.
Cutis Gyrata Syndrome of Beare And Stevenson Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Gyrata Syndrome of Beare And Stevenson from the curated CTD Gene-Disease Associations dataset.
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 from the curated CTD Gene-Disease Associations dataset.
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 from the curated CTD Gene-Disease Associations dataset.
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 from the curated CTD Gene-Disease Associations dataset.
Wounds and Injuries Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Wounds and Injuries from the curated CTD Gene-Disease Associations dataset.
Schizophrenia and Disorders with Psychotic Features Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Schizophrenia and Disorders with Psychotic Features from the curated CTD Gene-Disease Associations dataset.
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration from the curated CTD Gene-Disease Associations dataset.
Sleep Initiation and Maintenance Disorders Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Sleep Initiation and Maintenance Disorders from the curated CTD Gene-Disease Associations dataset.
Scaphocephaly, Maxillary Retrusion, And Mental Retardation Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Scaphocephaly, Maxillary Retrusion, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.
Cataract and cardiomyopathy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cataract and cardiomyopathy from the curated CTD Gene-Disease Associations dataset.
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 from the curated CTD Gene-Disease Associations dataset.
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA from the curated CTD Gene-Disease Associations dataset.
Neuropathy, hereditary motor and sensory, Okinawa type Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, Okinawa type from the curated CTD Gene-Disease Associations dataset.
Spastic Paraplegia, Optic Atrophy, and Neuropathy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia, Optic Atrophy, and Neuropathy from the curated CTD Gene-Disease Associations dataset.
Generalized Epilepsy and Paroxysmal Dyskinesia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Generalized Epilepsy and Paroxysmal Dyskinesia from the curated CTD Gene-Disease Associations dataset.
Hereditary Breast and Ovarian Cancer Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Breast and Ovarian Cancer Syndrome from the curated CTD Gene-Disease Associations dataset.
Keratosis palmoplantaris with periodontopathia and onychogryposis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Keratosis palmoplantaris with periodontopathia and onychogryposis from the curated CTD Gene-Disease Associations dataset.
Intracranial Embolism and Thrombosis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Intracranial Embolism and Thrombosis from the curated CTD Gene-Disease Associations dataset.
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY from the curated CTD Gene-Disease Associations dataset.
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract from the curated CTD Gene-Disease Associations dataset.
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma from the curated CTD Gene-Disease Associations dataset.
Nevi and Melanomas Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Nevi and Melanomas from the curated CTD Gene-Disease Associations dataset.
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders from the curated CTD Gene-Disease Associations dataset.
Attention Deficit and Disruptive Behavior Disorders Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Attention Deficit and Disruptive Behavior Disorders from the curated CTD Gene-Disease Associations dataset.
Cardiomyopathy dilated with Woolly hair and keratoderma Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy dilated with Woolly hair and keratoderma from the curated CTD Gene-Disease Associations dataset.
Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism from the curated CTD Gene-Disease Associations dataset.
Optic atrophy and cataract, autosomal dominant Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Optic atrophy and cataract, autosomal dominant from the curated CTD Gene-Disease Associations dataset.
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 from the curated CTD Gene-Disease Associations dataset.
Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypermanganesemia with Dystonia Polycythemia and Cirrhosis from the curated CTD Gene-Disease Associations dataset.
Juvenile macular degeneration and hypotrichosis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Juvenile macular degeneration and hypotrichosis from the curated CTD Gene-Disease Associations dataset.
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS from the curated CTD Gene-Disease Associations dataset.
Mullerian Aplasia and Hyperandrogenism Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mullerian Aplasia and Hyperandrogenism from the curated CTD Gene-Disease Associations dataset.
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset.
Esophageal and Gastric Varices Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Esophageal and Gastric Varices from the curated CTD Gene-Disease Associations dataset.
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC from the curated CTD Gene-Disease Associations dataset.
Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.
Carcinoma, squamous cell of head and neck Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Carcinoma, squamous cell of head and neck from the curated CTD Gene-Disease Associations dataset.
Polycythemia, primary familial and congenital Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Polycythemia, primary familial and congenital from the curated CTD Gene-Disease Associations dataset.
Extravasation of Diagnostic and Therapeutic Materials Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Extravasation of Diagnostic and Therapeutic Materials from the curated CTD Gene-Disease Associations dataset.
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis from the curated CTD Gene-Disease Associations dataset.
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 from the curated CTD Gene-Disease Associations dataset.
Knuckle pads, leuconychia and sensorineural deafness Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Knuckle pads, leuconychia and sensorineural deafness from the curated CTD Gene-Disease Associations dataset.
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation from the curated CTD Gene-Disease Associations dataset.
Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked from the curated CTD Gene-Disease Associations dataset.
Hyperekplexia and Epilepsy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hyperekplexia and Epilepsy from the curated CTD Gene-Disease Associations dataset.
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia from the curated CTD Gene-Disease Associations dataset.
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails from the curated CTD Gene-Disease Associations dataset.
Iris hypoplasia and glaucoma Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Iris hypoplasia and glaucoma from the curated CTD Gene-Disease Associations dataset.
NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset.
Sarcoma family syndrome of Li and Fraumeni Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Sarcoma family syndrome of Li and Fraumeni from the curated CTD Gene-Disease Associations dataset.
PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS from the curated CTD Gene-Disease Associations dataset.
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Nephropathy with Pretibial Epidermolysis Bullosa and Deafness from the curated CTD Gene-Disease Associations dataset.
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome from the curated CTD Gene-Disease Associations dataset.
Lipoid Proteinosis of Urbach and Wiethe Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Lipoid Proteinosis of Urbach and Wiethe from the curated CTD Gene-Disease Associations dataset.
Hypertelorism with esophageal abnormality and hypospadias Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypertelorism with esophageal abnormality and hypospadias from the curated CTD Gene-Disease Associations dataset.
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis from the curated CTD Gene-Disease Associations dataset.
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 from the curated CTD Gene-Disease Associations dataset.
Bone Fragility with Contractures, Arterial Rupture, and Deafness Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Bone Fragility with Contractures, Arterial Rupture, and Deafness from the curated CTD Gene-Disease Associations dataset.
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis from the curated CTD Gene-Disease Associations dataset.
Jervell And Lange-Nielsen Syndrome 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Jervell And Lange-Nielsen Syndrome 2 from the curated CTD Gene-Disease Associations dataset.
Neoplasms, Glandular and Epithelial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neoplasms, Glandular and Epithelial from the curated CTD Gene-Disease Associations dataset.
Ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal dysplasia, ectrodactyly, and macular dystrophy from the curated CTD Gene-Disease Associations dataset.
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Alopecia, Neurologic Defects, and Endocrinopathy Syndrome from the curated CTD Gene-Disease Associations dataset.
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness from the curated CTD Gene-Disease Associations dataset.
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Early-onset ataxia with oculomotor apraxia and hypoalbuminemia from the curated CTD Gene-Disease Associations dataset.
Pyogenic arthritis, pyoderma gangrenosum, and acne Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Pyogenic arthritis, pyoderma gangrenosum, and acne from the curated CTD Gene-Disease Associations dataset.
Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysa bullosa simplex and limb girdle muscular dystrophy from the curated CTD Gene-Disease Associations dataset.
Cleft Palate, Isolated, And Mental Retardation Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cleft Palate, Isolated, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.
Absent radii and thrombocytopenia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Absent radii and thrombocytopenia from the curated CTD Gene-Disease Associations dataset.
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS from the curated CTD Gene-Disease Associations dataset.
Microcephaly with Mental Retardation and Digital Anomalies Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly with Mental Retardation and Digital Anomalies from the curated CTD Gene-Disease Associations dataset.
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies from the curated CTD Gene-Disease Associations dataset.
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease STAPES ANKYLOSIS WITH BROAD THUMB AND TOES from the curated CTD Gene-Disease Associations dataset.
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities from the curated CTD Gene-Disease Associations dataset.
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy from the curated CTD Gene-Disease Associations dataset.
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance from the curated CTD Gene-Disease Associations dataset.
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity from the curated CTD Gene-Disease Associations dataset.
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset.
Signs and Symptoms, Respiratory Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Signs and Symptoms, Respiratory from the curated CTD Gene-Disease Associations dataset.
Renal cysts and diabetes syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Renal cysts and diabetes syndrome from the curated CTD Gene-Disease Associations dataset.
Neuropathy, hereditary motor and sensory, LOM type Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, LOM type from the curated CTD Gene-Disease Associations dataset.
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor from the curated CTD Gene-Disease Associations dataset.
Hereditary Angioedema Types I and II Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Angioedema Types I and II from the curated CTD Gene-Disease Associations dataset.
Drug-Related Side Effects and Adverse Reactions Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Drug-Related Side Effects and Adverse Reactions from the curated CTD Gene-Disease Associations dataset.
Insect Bites and Stings Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Insect Bites and Stings from the curated CTD Gene-Disease Associations dataset.
T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease T-cell immunodeficiency, congenital alopecia and nail dystrophy from the curated CTD Gene-Disease Associations dataset.
Foveal Hypoplasia and Anterior Segment Dysgenesis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Foveal Hypoplasia and Anterior Segment Dysgenesis from the curated CTD Gene-Disease Associations dataset.
Cubitus Valgus with Mental Retardation and Unusual Facies Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cubitus Valgus with Mental Retardation and Unusual Facies from the curated CTD Gene-Disease Associations dataset.
Ophthalmoplegia, External, and Myopia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ophthalmoplegia, External, and Myopia from the curated CTD Gene-Disease Associations dataset.
Deafness, Sensorineural, And Male Infertility Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Sensorineural, And Male Infertility from the curated CTD Gene-Disease Associations dataset.
Hereditary Sensory and Autonomic Neuropathies Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Sensory and Autonomic Neuropathies from the curated CTD Gene-Disease Associations dataset.
Histiocytosis with joint contractures and sensorineural deafness Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Histiocytosis with joint contractures and sensorineural deafness from the curated CTD Gene-Disease Associations dataset.
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked from the curated CTD Gene-Disease Associations dataset.
Leiomyomatosis, esophageal and vulval, with nephropathy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Leiomyomatosis, esophageal and vulval, with nephropathy from the curated CTD Gene-Disease Associations dataset.
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Growth Retardation, Developmental Delay, Coarse Facies, And Early Death from the curated CTD Gene-Disease Associations dataset.
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis from the curated CTD Gene-Disease Associations dataset.
Embolism and Thrombosis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Embolism and Thrombosis from the curated CTD Gene-Disease Associations dataset.
Religion and Psychology Gene Set From dbGAP Gene-Trait Associations genes associated with the trait Religion and Psychology in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
Attention Deficit and Disruptive Behavior Disorders Gene Set From dbGAP Gene-Trait Associations genes associated with the trait Attention Deficit and Disruptive Behavior Disorders in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
Body Weights and Measures Gene Set From dbGAP Gene-Trait Associations genes associated with the trait Body Weights and Measures in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
Nevi and Melanomas Gene Set From dbGAP Gene-Trait Associations genes associated with the trait Nevi and Melanomas in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
Head and Neck Neoplasms Gene Set From dbGAP Gene-Trait Associations genes associated with the trait Head and Neck Neoplasms in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
blepharophimosis, ptosis, and epicanthus inversus syndrome Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease blepharophimosis, ptosis, and epicanthus inversus syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
degeneration of macula and posterior pole Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease degeneration of macula and posterior pole from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
eye and adnexa disease Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease eye and adnexa disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
eye and adnexa disease Gene Set From DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease eye and adnexa disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
inflammatory and toxic neuropathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease inflammatory and toxic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
mucinous tubular and spindle renal cell carcinoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mucinous tubular and spindle renal cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
pustulosis of palm and sole Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pustulosis of palm and sole in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
hand, foot and mouth disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hand, foot and mouth disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
tooth and nail syndrome Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease tooth and nail syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
extrapyramidal and movement disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease extrapyramidal and movement disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
mononeuritis of upper limb and mononeuritis multiplex Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mononeuritis of upper limb and mononeuritis multiplex in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
lung mixed small cell and squamous cell carcinoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease lung mixed small cell and squamous cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
autoimmune disease of skin and connective tissue Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease autoimmune disease of skin and connective tissue in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
histiocytic and dendritic cell cancer Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease histiocytic and dendritic cell cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
blepharophimosis, ptosis, and epicanthus inversus syndrome Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease blepharophimosis, ptosis, and epicanthus inversus syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
germ cell and embryonal cancer Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease germ cell and embryonal cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
mixed endometrial stromal and smooth muscle tumor Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mixed endometrial stromal and smooth muscle tumor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
spinal canal and spinal cord meningioma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease spinal canal and spinal cord meningioma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
ovarian germ cell monodermal and highly specialized teratoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ovarian germ cell monodermal and highly specialized teratoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
degeneration of macula and posterior pole Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease degeneration of macula and posterior pole in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
mature t-cell and nk-cell lymphoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mature t-cell and nk-cell lymphoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
eye and adnexa disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease eye and adnexa disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
breast and lung cancer Gene Set From GAD Gene-Disease Associations genes associated with the disease breast and lung cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
increased chromosome aberrations and higher lung cancer risk Gene Set From GAD Gene-Disease Associations genes associated with the disease increased chromosome aberrations and higher lung cancer risk in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hyper-ige syndrome and severe eczema. atopy Gene Set From GAD Gene-Disease Associations genes associated with the disease hyper-ige syndrome and severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Harmonizome 3.0

Combined malonic and methylmalonic acidemia Gene Set

Combined malonic and methylmalonic acidemia Gene Set

Combined malonic and methylmalonic acidemia Gene Set

Combined malonic and methylmalonic aciduria Gene Set

combined malonic and methylmalonic aciduria Gene Set

Combined Malonic And Methylmalonic Aciduria Gene Set

mental retardation, x-linked 3 (methylmalonic acidemia and homocysteinemia, cblx type ) Gene Set

Methylmalonic acidemia and homocysteinemia cblX type Gene Set

CblC combined methylmalonic aciduria and homocystinuria Gene Set

Methylmalonic acidemia with homocystinuria Gene Set

Methylmalonic acidemia with homocystinuria cblD Gene Set

Methylmalonic acidemia with homocystinuria Gene Set

Methylmalonic acidemia Gene Set

methylmalonic acidemia Gene Set

methylmalonic acidemia Gene Set

methylmalonic acidemia Gene Set

Methylmalonic Acidemia Gene Set

Methylmalonic Acidemia Gene Set

Methylmalonic acidemia Gene Set

Methylmalonic acidemia Gene Set

Methylmalonic acidemia cblA type Gene Set

Methylmalonic acidemia cblB type Gene Set

Methylmalonic acidemia Gene Set

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Gene Set

Methylmalonic acidemia due to transcobalamin receptor defect Gene Set

malonic acid Gene Set

Malonic aciduria Gene Set

2-{4-[(2s)-2-[({[(1s)-1-Carboxy-2-Phenylethyl]Amino}Carbonyl)Amino]-3-Oxo-3-(Pentylamino)Propyl]Phenoxy}Malonic Acid Gene Set

Malonic acid Gene Set

Malonic acid Gene Set

Malonic semialdehyde Gene Set

Malonic Aciduria Gene Set

MALONIC ACID Gene Set

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE Gene Set

Methylmalonic Aciduria and Homocystinuria, CblD Type Gene Set

Methylmalonic Aciduria and Homocystinuria, CblF Type Gene Set

methylmalonic aciduria and homocystinuria type cblc Gene Set

Methylmalonic aciduria and homocystinuria type D protein Gene Set

methylmalonic aciduria and homocystinuria, cbld type Gene Set

methylmalonic aciduria and homocystinuria, cblf type Gene Set

methylmalonic aciduria and homocystinuria, cblc type Gene Set

methylmalonic aciduria and homocystinuria, cblj type Gene Set

Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Gene Set

Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Gene Set

Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Gene Set

Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Gene Set

Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Gene Set

Methylmalonic aciduria and homocystinuria type cblD Gene Set

Methylmalonic aciduria and homocystinuria type cblC Gene Set

Methylmalonic aciduria and homocystinuria type cblF Gene Set

Methylmalonic aciduria and homocystinuria Gene Set

METHYLMALONIC ACIDURIA AND HOMOCYSTINU Gene Set

Combined cellular and humoral immune defects with granulomas Gene Set

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

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

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

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

Combined deficiency of sialidase AND beta galactosidase Gene Set

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

Combined Cellular And Humoral Immune Defects With Granulomas Gene Set

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene Set

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene Set

combined t cell and b cell immunodeficiency Gene Set

combined t cell and b cell immunodeficiency Gene Set

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

crohn's disease and sarcoidosis (combined) Gene Set

Schizophrenia, bipolar disorder and depression (combined) Gene Set

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

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

Sclerosing cholangitis and ulcerative colitis (combined) Gene Set

Bipolar disorder and major depressive disorder (combined) Gene Set

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

factor v and factor viii, combined deficiency of Gene Set

combined cellular and humoral immune defects with granulomas Gene Set

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

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

combined factor v and viii deficiency Gene Set

Combined Pulmonary Fibrosis And Emphysema Gene Set

Combined Hepatocellular Carcinoma And Cholangiocarcinoma Gene Set