Name

atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Erythrocyte lactate transporter defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Erythrocyte lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Erythrocyte Lactate Transporter Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Erythrocyte Lactate Transporter Defect from the curated CTD Gene-Disease Associations dataset.

erythrocyte lactate transporter defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the erythrocyte lactate transporter defect phenotype from the curated OMIM Gene-Disease Associations dataset.

heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; down syndrome; heart defects, congenital; heart septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; down syndrome; heart defects, congenital; heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lactate transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

lactate metabolic process Gene Set

From GO Biological Process Annotations

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

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

From CTD Gene-Disease Associations

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

myopathy due to cpt ii deficiency Gene Set

From OMIM Gene-Disease Associations

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

myopathy due to myoadenylate deaminase deficiency Gene Set

From OMIM Gene-Disease Associations

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

Thrombophilia due to thrombomodulin defect Gene Set

From ClinVar Gene-Phenotype Associations

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

Immunodeficiency due to defect in cd3-zeta Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

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.

Immunodeficiency due to Defect in CD3-Zeta Gene Set

From CTD Gene-Disease Associations

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

Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

respiratory insufficiency due to defective ciliary clearance Gene Set

From HPO Gene-Disease Associations

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

generalized hypotonia due to defect at the neuromuscular junction Gene Set

From HPO Gene-Disease Associations

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

thrombophilia due to thrombomodulin defect Gene Set

From OMIM Gene-Disease Associations

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

bleeding disorder due to p2rx1 defect Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

hypercholesterolemia, due to ligand-defective apo b Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

?male pseudohermaphroditism due to defective lh Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

methylmalonic aciduria due to transcobalamin receptor defect Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

immunodeficiency due to defect in mapbp-interacting protein Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

thrombophilia due to thrombin defect Gene Set

From OMIM Gene-Disease Associations

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

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

From Reactome Pathways

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

congenital heart defects; heart defects, congenital; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; folic acid deficiency; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; folic acid deficiency; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; atrial septal defects; brain ischemia; diabetes mellitus; heart septal defects, atrial; hypertension; intracranial thrombosis; ischemic attack, transient; stroke; transient ischemic attack Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; atrial septal defects; brain ischemia; diabetes mellitus; heart septal defects, atrial; hypertension; intracranial thrombosis; ischemic attack, transient; stroke; transient ischemic attack in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial septal defects; death, sudden; heart septal defects, atrial; isolated noncompaction of the ventricular myocardium; syncope Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; death, sudden; heart septal defects, atrial; isolated noncompaction of the ventricular myocardium; syncope in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart septal defects, ventricular; ventricular septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart septal defects, ventricular; ventricular septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; heart septal defects, ventricular; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; heart septal defects, ventricular; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

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

heart defects, congenital; heart septal defects, ventricular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; ventricular outflow obstruction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; ventricular outflow obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; atrial septal defects; heart septal defects, atrial; stroke; thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; atrial septal defects; heart septal defects, atrial; stroke; thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; nervous system diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; nervous system diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial septal defects; heart septal defects, atrial; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; heart septal defects, atrial; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; atrial septal defects; embolism, paradoxical; heart septal defects, atrial; migraine with aura; stroke; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; atrial septal defects; embolism, paradoxical; heart septal defects, atrial; migraine with aura; stroke; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body weight; congenital heart defects; growth disorders; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body weight; congenital heart defects; growth disorders; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Lactate dehydrogenase b deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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.

aluminum lactate Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical aluminum lactate from the curated CTD Gene-Chemical Interactions 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.

Lactate dehydrogenase deficiency type A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lactate dehydrogenase deficiency type A from the curated CTD Gene-Disease Associations dataset.

L-Lactate Dehydrogenase Gene Set

From dbGAP Gene-Trait Associations

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

3-(INDOL-3-YL) LACTATE Gene Set

From DrugBank Drug Targets

interacting proteins for the 3-(INDOL-3-YL) LACTATE drug from the curated DrugBank Drug Targets dataset.

l-lactate dehydrogenase Gene Set

From GAD Gene-Disease Associations

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

lactate Gene Set

From GeneRIF Biological Term Annotations

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

lactate transmembrane transport Gene Set

From GO Biological Process Annotations

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

lactate oxidation Gene Set

From GO Biological Process Annotations

genes participating in the lactate oxidation biological process from the curated GO Biological Process Annotations dataset.

methylglyoxal catabolic process to d-lactate Gene Set

From GO Biological Process Annotations

genes participating in the methylglyoxal catabolic process to d-lactate biological process from the curated GO Biological Process Annotations dataset.

lactate biosynthetic process Gene Set

From GO Biological Process Annotations

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

lactate transport Gene Set

From GO Biological Process Annotations

genes participating in the lactate transport biological process from the curated GO Biological Process Annotations dataset.

plasma membrane lactate transport Gene Set

From GO Biological Process Annotations

genes participating in the plasma membrane lactate transport biological process from the curated GO Biological Process Annotations dataset.

lactate biosynthetic process from pyruvate Gene Set

From GO Biological Process Annotations

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

l-lactate dehydrogenase activity Gene Set

From GO Molecular Function Annotations

genes performing the l-lactate dehydrogenase activity molecular function from the curated GO Molecular Function Annotations dataset.

lactate dehydrogenase activity Gene Set

From GO Molecular Function Annotations

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

d-lactate dehydrogenase (cytochrome) activity Gene Set

From GO Molecular Function Annotations

genes performing the d-lactate dehydrogenase (cytochrome) activity molecular function from the curated GO Molecular Function Annotations dataset.

3-(3,5-Diiodo-4-hydroxyphenyl)lactate Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the 3-(3,5-Diiodo-4-hydroxyphenyl)lactate metabolite from the curated HMDB Metabolites of Enzymes dataset.

abnormal csf lactate level Gene Set

From HPO Gene-Disease Associations

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

increased csf lactate Gene Set

From HPO Gene-Disease Associations

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

increased serum lactate Gene Set

From HPO Gene-Disease Associations

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

lactate fermentation (reoxidation of cytosolic NADH) Gene Set

From HumanCyc Pathways

proteins participating in the lactate fermentation (reoxidation of cytosolic NADH) pathway from the HumanCyc Pathways dataset.

Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lactate/malate dehydrogenase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lactate/malate dehydrogenase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

L-lactate dehydrogenase, active site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the L-lactate dehydrogenase, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

L-lactate dehydrogenase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the L-lactate dehydrogenase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lactate/malate dehydrogenase, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lactate/malate dehydrogenase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

L-lactate/malate dehydrogenase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the L-lactate/malate dehydrogenase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

abnormal circulating lactate dehydrogenase level Gene Set

From MPO Gene-Phenotype Associations

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

increased circulating lactate dehydrogenase level Gene Set

From MPO Gene-Phenotype Associations

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

decreased lactate dehydrogenase level Gene Set

From MPO Gene-Phenotype Associations

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

abnormal lactate dehydrogenase level Gene Set

From MPO Gene-Phenotype Associations

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

abnormal circulating lactate level Gene Set

From MPO Gene-Phenotype Associations

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

decreased circulating lactate level Gene Set

From MPO Gene-Phenotype Associations

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

increased lactate dehydrogenase level Gene Set

From MPO Gene-Phenotype Associations

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

increased circulating lactate level Gene Set

From MPO Gene-Phenotype Associations

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

lactate dehydrogenase-b deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the lactate dehydrogenase-b deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

metabolic diseases; metabolic syndrome x Gene Set

From GAD Gene-Disease Associations

genes associated with the disease metabolic diseases; metabolic syndrome x in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

metabolic syndrome ; metabolic syndrome Gene Set

From GAD Gene-Disease Associations

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

Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set

From ClinVar Gene-Phenotype Associations

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

SCID due to ADA deficiency, delayed onset Gene Set

From ClinVar Gene-Phenotype Associations

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

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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.

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

From ClinVar Gene-Phenotype Associations

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

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Megaloblastic anemia due to inborn errors of metabolism Gene Set

From ClinVar Gene-Phenotype Associations

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

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Homocysteinemia due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Immunodeficiency due to ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Thrombophilia due to activated protein C resistance Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypermethioninemia due to adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Homocystinuria due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Leigh syndrome due to mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, severe, due to leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylate kinase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

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

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset.

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset.

Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

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

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset.

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Krabbe Disease, Atypical, due to Saposin A Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.

Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene Set

From CTD Gene-Disease Associations

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

Thrombophilia Due To Elevated Histidine-Rich Glycoprotein Gene Set

From CTD Gene-Disease Associations

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

Thrombophilia due to Activated Protein C Resistance Gene Set

From CTD Gene-Disease Associations

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

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Metachromatic Leukodystrophy due to Saposin B Deficiency Gene Set

From CTD Gene-Disease Associations

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

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

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

thrombocytopenia due to platelet alloimmunization Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

pneumoconiosis due to talc Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

hereditary spastic paraparesis due to a frame shift mutat Gene Set

From GAD Gene-Disease Associations

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

depressed suicide; suicide due to depression Gene Set

From GAD Gene-Disease Associations

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

due Gene Set

From GeneRIF Biological Term Annotations

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

anemia due to reduced life span of red cells Gene Set

From GWASdb SNP-Phenotype Associations

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

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

From HPO Gene-Disease Associations

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

anemia due to reduced life span of red cells Gene Set

From HPO Gene-Disease Associations

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

restricted neck movement due to contractures Gene Set

From HPO Gene-Disease Associations

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

chronic rhinitis due to narrow nasal airway Gene Set

From HPO Gene-Disease Associations

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

osteomyelitis due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

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

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

From HPO Gene-Disease Associations

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

bowing of limbs due to multiple fractures Gene Set

From HPO Gene-Disease Associations

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

respiratory insufficiency due to muscle weakness Gene Set

From HPO Gene-Disease Associations

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

osteomyelitis leading to amputation due to slow healing fractures Gene Set

From HPO Gene-Disease Associations

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

weakness due to upper motor neuron dysfunction Gene Set

From HPO Gene-Disease Associations

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

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

From HPO Gene-Disease Associations

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

recurrent infections due to aspiration Gene Set

From HPO Gene-Disease Associations

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

chronic hepatitis due to cryptospridium infection Gene Set

From HPO Gene-Disease Associations

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

subperiosteal erosions due to secondary hyperparathyroidism Gene Set

From HPO Gene-Disease Associations

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

painless fractures due to injury Gene Set

From HPO Gene-Disease Associations

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

hepatic abscesses due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

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

cellulitis due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

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

decreased sweating due to autonomic dysfunction Gene Set

From HPO Gene-Disease Associations

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

intermittent episodes of respiratory insufficiency due to muscle weakness Gene Set

From HPO Gene-Disease Associations

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

orthostatic hypotension due to autonomic dysfunction Gene Set

From HPO Gene-Disease Associations

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

{chronic infections, due to mbl deficiency} Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

thrombophilia due to hrg deficiency Gene Set

From OMIM Gene-Disease Associations

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

severe combined immunodeficiency due to il2 deficiency Gene Set

From OMIM Gene-Disease Associations

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

thrombophilia due to protein s deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

hemolytic anemia due to phosphofructokinase deficiency Gene Set

From OMIM Gene-Disease Associations

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

nephropathy due to cfhr5 deficiency Gene Set

From OMIM Gene-Disease Associations

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

megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From OMIM Gene-Disease Associations

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

thrombophilia due to protein s deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

thrombophilia due to heparin cofactor ii deficiency Gene Set

From OMIM Gene-Disease Associations

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

obesity, morbid, due to leptin receptor deficiency Gene Set

From OMIM Gene-Disease Associations

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

glucocorticoid deficiency, due to acth unresponsiveness Gene Set

From OMIM Gene-Disease Associations

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

disordered steroidogenesis due to cytochrome p450 oxidoreductase Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

hemorrhagic diathesis due to 'antithrombin' pittsburgh Gene Set

From OMIM Gene-Disease Associations

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

immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set

From OMIM Gene-Disease Associations

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

hemolytic anemia due to glutathione peroxidase deficiency Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

thrombophilia due to protein c deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

lacticacidemia due to pdx1 deficiency Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

omphalocele due to duplication of 1p31.3 Gene Set

From OMIM Gene-Disease Associations

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

muscular dystrophy, congenital, due to itga7 deficiency Gene Set

From OMIM Gene-Disease Associations

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

anemia, hemolytic, due to umph1 deficiency Gene Set

From OMIM Gene-Disease Associations

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

homocystinuria due to mthfr deficiency Gene Set

From OMIM Gene-Disease Associations

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

severe combined immunodeficiency due to ada deficiency Gene Set

From OMIM Gene-Disease Associations

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

leigh syndrome due to mitochondrial complex i deficiency Gene Set

From OMIM Gene-Disease Associations

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

thrombophilia due to protein c deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

cirrhosis due to liver phosphorylase kinase deficiency Gene Set

From OMIM Gene-Disease Associations

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

hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

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

metachromatic leukodystrophy due to sap-b deficiency Gene Set

From OMIM Gene-Disease Associations

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

gigantism due to ghrf hypersecretion Gene Set

From OMIM Gene-Disease Associations

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

obesity, morbid, due to leptin deficiency Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

leigh syndrome, due to cox deficiency Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

hyperammonemia due to carbonic anhydrase va deficiency Gene Set

From OMIM Gene-Disease Associations

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

hemolytic anemia due to g6pd deficiency Gene Set

From OMIM Gene-Disease Associations

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

hemolytic anemia due to glutathione synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

thrombophilia due to activated protein c resistance Gene Set

From OMIM Gene-Disease Associations

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

hydrocephalus due to aqueductal stenosis Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

thrombophilia due to elevated hrg Gene Set

From OMIM Gene-Disease Associations

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

hemolytic anemia due to adenylate kinase deficiency Gene Set

From OMIM Gene-Disease Associations

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

hemolytic anemia due to glutathione reductase deficiency Gene Set

From OMIM Gene-Disease Associations

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

emphysema due to aat deficiency Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

thrombophilia due to antithrombin iii deficiency Gene Set

From OMIM Gene-Disease Associations

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

erythrocytosis due to bisphosphoglycerate mutase deficiency Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

thalassemia due to hb lepore Gene Set

From OMIM Gene-Disease Associations

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

aica-ribosiduria due to atic deficiency Gene Set

From OMIM Gene-Disease Associations

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

hypoaldosteronism, congenital, due to cmo i deficiency Gene Set

From OMIM Gene-Disease Associations

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

leigh syndrome due to mitochondrial cox4 deficiency Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

hypermethioninemia due to adenosine kinase deficiency Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

leigh syndrome due to cytochrome c oxidase deficiency Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

neurodegeneration due to cerebral folate transport deficiency Gene Set

From OMIM Gene-Disease Associations

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

immunodeficiency due to ficolin 3 deficiency Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

leigh syndrome due to mitochondrial complex 1 deficiency Gene Set

From OMIM Gene-Disease Associations

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

hemolytic anemia due to triosephosphate isomerase deficiency Gene Set

From OMIM Gene-Disease Associations

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

{resistance to malaria due to g6pd deficiency} Gene Set

From OMIM Gene-Disease Associations

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

hemolytic anemia due to hexokinase deficiency Gene Set

From OMIM Gene-Disease Associations

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

hemosiderosis, systemic, due to aceruloplasminemia Gene Set

From OMIM Gene-Disease Associations

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

emphysema-cirrhosis, due to aat deficiency Gene Set

From OMIM Gene-Disease Associations

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

hypoaldosteronism, congenital, due to cmo ii deficiency Gene Set

From OMIM Gene-Disease Associations

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

?male infertility due to acrosin deficiency Gene Set

From OMIM Gene-Disease Associations

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

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

From Wikipathways Pathways

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

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.

Bethlem myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bethlem myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myofibrillar myopathy, ZASP-related Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myofibrillar myopathy, ZASP-related 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.

Myopathy, centronuclear Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, centronuclear phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epiphyseal dysplasia, multiple, 3, with myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epiphyseal dysplasia, multiple, 3, with myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 3, autosomal dominant or recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inclusion body myopathy 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inclusion body myopathy 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, reducing body, X-linked, early-onset, severe Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, reducing body, X-linked, early-onset, severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, centronuclear, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, centronuclear, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, myosin storage Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, myosin storage phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, actin, congenital, with cores Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, actin, congenital, with cores 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.

Minicore myopathy with external ophthalmoplegia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Minicore myopathy with external ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Visceral myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Visceral myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Native American myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Native American myopathy 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.

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.

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.

Nonaka myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nonaka myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, tubular aggregate, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, tubular aggregate, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myofibrillar myopathy, filamin C-related Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myofibrillar myopathy, filamin C-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy with lactic acidosis, hereditary Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy with lactic acidosis, hereditary phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe X-linked myotubular myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe X-linked myotubular myopathy 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.

Myopathy, actin, congenital, with excess of thin myofilaments Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, actin, congenital, with excess of thin myofilaments phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal myopathy Markesbery-Griggs type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal myopathy Markesbery-Griggs type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, congenital, with excess of muscle spindles Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, congenital, with excess of muscle spindles phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, distal, 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, distal, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary myopathy with early respiratory failure Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary myopathy with early respiratory failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked myopathy with postural muscle atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked myopathy with postural muscle atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neutral lipid storage disease with myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neutral lipid storage disease with myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, congenital, compton-north Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, congenital, compton-north phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked dominant scapuloperoneal myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked dominant scapuloperoneal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myofibrillar myopathy 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myofibrillar myopathy 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brody myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brody myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, centronuclear, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, centronuclear, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive centronuclear myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, reducing body, X-linked, childhood-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, reducing body, X-linked, childhood-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, distal, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, distal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, distal, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, distal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Miyoshi myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Miyoshi myopathy 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.

Polyglucosan body myopathy, early-onset, with or without immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polyglucosan body myopathy, early-onset, with or without immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy with tubular aggregates Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy with tubular aggregates phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital myopathy with fiber type disproportion Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital myopathy with fiber type disproportion phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MYOPATHY, CENTRONUCLEAR, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOPATHY, CENTRONUCLEAR, 2 from the curated CTD Gene-Disease Associations dataset.

MYOPATHY, CENTRONUCLEAR, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOPATHY, CENTRONUCLEAR, 1 from the curated CTD Gene-Disease Associations dataset.

Myopathy, Central Core Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Central Core from the curated CTD Gene-Disease Associations dataset.

Bethlem myopathy Gene Set

From CTD Gene-Disease Associations

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

Myopathy, Reducing Body, X-Linked, Childhood-Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Childhood-Onset from the curated CTD Gene-Disease Associations dataset.

Myopathy, Distal, with Anterior Tibial Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Distal, with Anterior Tibial Onset from the curated CTD Gene-Disease Associations dataset.

Miyoshi myopathy Gene Set

From CTD Gene-Disease Associations

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

Welander distal myopathy, Swedish type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Welander distal myopathy, Swedish type 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.

MYOPATHY, MYOFIBRILLAR, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOPATHY, MYOFIBRILLAR, 1 from the curated CTD Gene-Disease Associations dataset.

MYOPATHY, MYOFIBRILLAR, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOPATHY, MYOFIBRILLAR, 4 from the curated CTD Gene-Disease Associations dataset.

MYOPATHY, MYOFIBRILLAR, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOPATHY, MYOFIBRILLAR, 6 from the curated CTD Gene-Disease Associations dataset.

Nemaline myopathy 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nemaline myopathy 6 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.

Nemaline myopathy 1 Gene Set

From CTD Gene-Disease Associations

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

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION 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.

Nemaline myopathy 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nemaline myopathy 5 from the curated CTD Gene-Disease Associations dataset.

Visceral Myopathy, Familial Gene Set

From CTD Gene-Disease Associations

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

Scapuloperoneal Myopathy, X-Linked Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Scapuloperoneal Myopathy, X-Linked Dominant from the curated CTD Gene-Disease Associations dataset.

Myopathy, Hyaline Body, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Hyaline Body, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Myopathy, Congenital, Compton-North Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Congenital, Compton-North from the curated CTD Gene-Disease Associations dataset.

Myopathy, X-Linked, With Postural Muscle Atrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, X-Linked, With Postural Muscle Atrophy from the curated CTD Gene-Disease Associations dataset.

SCAPULOPERONEAL MYOPATHY, MYH7-RELATED Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SCAPULOPERONEAL MYOPATHY, MYH7-RELATED from the curated CTD Gene-Disease Associations dataset.

Neutral Lipid Storage Disease with Myopathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutral Lipid Storage Disease with Myopathy from the curated CTD Gene-Disease Associations dataset.

Distal myopathy, Nonaka type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Distal myopathy, Nonaka type from the curated CTD Gene-Disease Associations dataset.

Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked from the curated CTD Gene-Disease Associations dataset.

Hereditary Myopathy with Early Respiratory Failure Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Myopathy with Early Respiratory Failure from the curated CTD Gene-Disease Associations dataset.

MYOPATHY, SPHEROID BODY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOPATHY, SPHEROID BODY from the curated CTD Gene-Disease Associations dataset.

Minicore Myopathy with External Ophthalmoplegia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Minicore Myopathy with External Ophthalmoplegia 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.

Myopathy, X-Linked, with Excessive Autophagy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, X-Linked, with Excessive Autophagy from the curated CTD Gene-Disease Associations dataset.

Myopathy with Lactic Acidosis, Hereditary Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy with Lactic Acidosis, Hereditary from the curated CTD Gene-Disease Associations dataset.

MYOPATHY, CENTRONUCLEAR, X-LINKED Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOPATHY, CENTRONUCLEAR, X-LINKED from the curated CTD Gene-Disease Associations dataset.

Myopathy, Myosin Storage Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Myosin Storage from the curated CTD Gene-Disease Associations dataset.

Nemaline myopathy 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nemaline myopathy 3 from the curated CTD Gene-Disease Associations dataset.

Nemaline myopathy 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nemaline myopathy 4 from the curated CTD Gene-Disease Associations dataset.

Nemaline Myopathy 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nemaline Myopathy 2 from the curated CTD Gene-Disease Associations dataset.

Inclusion Body Myopathy 3, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Inclusion Body Myopathy 3, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Myopathy, Early-Onset, with Fatal Cardiomyopathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Early-Onset, with Fatal Cardiomyopathy from the curated CTD Gene-Disease Associations dataset.

Inclusion body myopathy autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Inclusion body myopathy autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Brody myopathy Gene Set

From CTD Gene-Disease Associations

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

Nemaline Myopathy 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nemaline Myopathy 7 from the curated CTD Gene-Disease Associations dataset.

Myopathy, Reducing Body, X-Linked, Early-Onset, Severe Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Early-Onset, Severe from the curated CTD Gene-Disease Associations dataset.

mitochondrial myopathy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

brody myopathy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

bethlem myopathy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

myopathy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

nemaline myopathy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

central core myopathy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

congenital structural myopathy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

centronuclear myopathy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

myopathy of extraocular muscle Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease myopathy of extraocular muscle from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

myopathy Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

congenital structural myopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

central core myopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

brody myopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

myopathy of extraocular muscle Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

mitochondrial myopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

bethlem myopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

x-linked myopathy with excessive autophagy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

myopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

centronuclear myopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

nemaline myopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

adult onset multi/minicore myopathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult onset multi/minicore myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

variable myopathy Gene Set

From GAD Gene-Disease Associations

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

mild myotubular myopathy Gene Set

From GAD Gene-Disease Associations

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

inherited myopathy Gene Set

From GAD Gene-Disease Associations

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

mitochondrial myopathy Gene Set

From GAD Gene-Disease Associations

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

nemaline myopathy Gene Set

From GAD Gene-Disease Associations

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

myopathy, idiopathic inflammatory Gene Set

From GAD Gene-Disease Associations

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

myopathy Gene Set

From GeneRIF Biological Term Annotations

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

MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

myopathy Gene Set

From GWASdb SNP-Disease Associations

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

scapuloperoneal myopathy Gene Set

From HPO Gene-Disease Associations

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

myofibrillar myopathy Gene Set

From HPO Gene-Disease Associations

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

mitochondrial myopathy Gene Set

From HPO Gene-Disease Associations

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

skeletal myopathy Gene Set

From HPO Gene-Disease Associations

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

myopathy Gene Set

From HPO Gene-Disease Associations

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

minicore (multicore) myopathy Gene Set

From HPO Gene-Disease Associations

genes associated with the minicore (multicore) myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

myopathy Gene Set

From MPO Gene-Phenotype Associations

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

nemaline myopathy 6, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 6, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, spheroid body Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, spheroid body phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy with extrapyramidal signs Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy with extrapyramidal signs phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, 2 Gene Set

From OMIM Gene-Disease Associations

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

myopathy, early-onset, with fatal cardiomyopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, early-onset, with fatal cardiomyopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, distal, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, distal, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset.

centronuclear myopathy 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the centronuclear myopathy 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myosin storage Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myosin storage phenotype from the curated OMIM Gene-Disease Associations dataset.

native american myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the native american myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

inclusion body myopathy, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the inclusion body myopathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, x-linked, with postural muscle atrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, x-linked, with postural muscle atrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 1, autosomal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 1, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, tubular aggregate Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, tubular aggregate phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, with myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, with myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 8, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 8, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 4, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 4, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

brody myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the brody myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

neutral lipid storage disease with myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutral lipid storage disease with myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myofibrillar, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, actin, congenital, with cores Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, actin, congenital, with cores phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, congenital, with fiber-type disproportion, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, congenital, with fiber-type disproportion, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

?myopathy, congenital, compton-north Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?myopathy, congenital, compton-north phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy with lactic acidosis, hereditary Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy with lactic acidosis, hereditary phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 5, amish type Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 5, amish type phenotype from the curated OMIM Gene-Disease Associations dataset.

?inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, reducing body, x-linked, childhood-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, reducing body, x-linked, childhood-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital myopathy with excess of muscle spindles Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital myopathy with excess of muscle spindles phenotype from the curated OMIM Gene-Disease Associations dataset.

welander distal myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the welander distal myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset.

bethlem myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the bethlem myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, centronuclear, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, centronuclear, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, distal 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, distal 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, proximal, with early respiratory muscle involvement Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, proximal, with early respiratory muscle involvement phenotype from the curated OMIM Gene-Disease Associations dataset.

laing distal myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the laing distal myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

polyglucosan body myopathy, early-onset, with or without immunodeficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the polyglucosan body myopathy, early-onset, with or without immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, congenital, with fiber-type disproportion 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, congenital, with fiber-type disproportion 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

?myopathy, tubular aggregate, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?myopathy, tubular aggregate, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

scapuloperoneal myopathy, x-linked dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the scapuloperoneal myopathy, x-linked dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 7, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 7, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial myopathy and sideroblastic anemia 1 Gene Set

From OMIM Gene-Disease Associations

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

myotubular myopathy, x-linked Gene Set

From OMIM Gene-Disease Associations

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

nemaline myopathy 3, autosomal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myofibrillar, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myofibrillar, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myofibrillar, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myofibrillar, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, lactic acidosis, and sideroblastic anemia 2 Gene Set

From OMIM Gene-Disease Associations

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

minicore myopathy with external ophthalmoplegia Gene Set

From OMIM Gene-Disease Associations

genes associated with the minicore myopathy with external ophthalmoplegia phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, distal, with anterior tibial onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, distal, with anterior tibial onset phenotype from the curated OMIM Gene-Disease Associations dataset.

cap myopathy 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cap myopathy 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cap myopathy 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cap myopathy 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

{centronuclear myopathy, autosomal, modifier of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {centronuclear myopathy, autosomal, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, congenital, with fiber-type disproportion Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, congenital, with fiber-type disproportion phenotype from the curated OMIM Gene-Disease Associations dataset.

inclusion body myopathy-3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the inclusion body myopathy-3 phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, centronuclear, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, centronuclear, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, centronuclear, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, centronuclear, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, centronuclear Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, centronuclear phenotype from the curated OMIM Gene-Disease Associations dataset.

?peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, reducing body, x-linked, severe early-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, reducing body, x-linked, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 2, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

nonaka myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the nonaka myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, distal, tateyama type Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, distal, tateyama type phenotype from the curated OMIM Gene-Disease Associations dataset.

visceral myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the visceral myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, actin, congenital, with excess of thin myofilaments Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, actin, congenital, with excess of thin myofilaments phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy Gene Set

From PhosphoSitePlus Phosphosite-Disease Associations

proteins associated with the disease myopathy from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset.

Dandy-Walker like malformation with atrioventricular septal defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dandy-Walker like malformation with atrioventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations 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.

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.

Protan defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Protan defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiac conduction defect, nonspecific Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiac conduction defect, nonspecific phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 7 with or without atrioventricular conduction defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 7 with or without atrioventricular conduction defects 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.

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.

Forebrain defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Forebrain defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphate transport defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphate transport defect 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.

Neutral 1 amino acid transport defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neutral 1 amino acid transport defect 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.

Ventricular septal defect 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ventricular septal defect 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ventricular septal defect 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ventricular septal defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Laron-type isolated somatotropin defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Laron-type isolated somatotropin defect 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.

Neural tube defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neural tube defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital heart defects, multiple types, 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital heart defects, multiple types, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bile acid synthesis defect, congenital, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bile acid synthesis defect, congenital, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bile acid synthesis defect, congenital, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bile acid synthesis defect, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucose-6-phosphate transport defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucose-6-phosphate transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Iodotyrosine deiodination defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Iodotyrosine deiodination defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal carnitine transport defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal carnitine transport defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrioventricular septal defect 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrioventricular septal defect 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrioventricular septal defect 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrioventricular septal defect 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital defect of folate absorption Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital defect of folate absorption phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oocyte maturation defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oocyte maturation defect 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.

Iodotyrosyl coupling defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Iodotyrosyl coupling defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Heart Septal Defects, Ventricular Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Septal Defects, Ventricular 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.

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.

Cardiac Conduction Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardiac Conduction Defect 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.

Atrial septal defect 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial septal defect 2 from the curated CTD Gene-Disease Associations dataset.

ATRIOVENTRICULAR SEPTAL DEFECT 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ATRIOVENTRICULAR SEPTAL DEFECT 3 from the curated CTD Gene-Disease Associations dataset.

Heart Septal Defects Gene Set

From CTD Gene-Disease Associations

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

Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome from the curated CTD Gene-Disease Associations dataset.

Bile acid synthesis defect, congenital, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile acid synthesis defect, congenital, 2 from the curated CTD Gene-Disease Associations dataset.

Bile acid synthesis defect, congenital, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile acid synthesis defect, congenital, 4 from the curated CTD Gene-Disease Associations dataset.

Atrial Septal Defect 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial Septal Defect 4 from the curated CTD Gene-Disease Associations dataset.

Neural Tube Defects Gene Set

From CTD Gene-Disease Associations

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

Atrioventricular Canal Defect Gene Set

From CTD Gene-Disease Associations

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

Bile acid synthesis defect, congenital, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile acid synthesis defect, congenital, 1 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.

Neural tube defect, folate-sensitive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neural tube defect, folate-sensitive from the curated CTD Gene-Disease Associations dataset.

Atrial Septal Defect 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial Septal Defect 6 from the curated CTD Gene-Disease Associations dataset.

Laterality Defects, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Laterality Defects, Autosomal Dominant 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.

Heart Septal Defects, Atrial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Septal Defects, Atrial from the curated CTD Gene-Disease Associations dataset.

Atrial Septal Defect 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial Septal Defect 5 from the curated CTD Gene-Disease Associations dataset.

Atrial Septal Defect 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrial Septal Defect 1 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.

Heart Defects, Congenital Gene Set

From CTD Gene-Disease Associations

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

Micronuclei, Chromosome-Defective Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Micronuclei, Chromosome-Defective from the curated CTD Gene-Disease Associations dataset.

Color Vision Defects Gene Set

From CTD Gene-Disease Associations

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

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS from the curated CTD Gene-Disease Associations dataset.

atrial heart septal defect Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease atrial heart septal defect from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

heart septal defect Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

heart septal defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ventricular septal defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

alcohol-related birth defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

atrioventricular septal defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital bile acid synthesis defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

atrial heart septal defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

qualitative platelet defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

defective colour vision Gene Set

From GAD Gene-Disease Associations

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

micronuclei, chromosome-defective Gene Set

From GAD Gene-Disease Associations

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

congenital heart defects Gene Set

From GAD Gene-Disease Associations

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

heart defects, congenital; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft palate and calvaria defects. Gene Set

From GAD Gene-Disease Associations

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

familial defective apolipoprotein b100. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease familial defective apolipoprotein b100. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects; dihydropyrimidine dehydrogenase Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects; dihydropyrimidine dehydrogenase in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

defective dr beta 4 chain expression to the hla-drb1 gene Gene Set

From GAD Gene-Disease Associations

genes associated with the disease defective dr beta 4 chain expression to the hla-drb1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

familial defective apolipoprotein b Gene Set

From GAD Gene-Disease Associations

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

cardiovascular diseases; micronuclei, chromosome-defective Gene Set

From GAD Gene-Disease Associations

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

antiphospholipid syndrome; arterial occlusive diseases; blood coagulation disorders, inherited; cardiomyopathy, dilated; heart defects, congenital; heart diseases; thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antiphospholipid syndrome; arterial occlusive diseases; blood coagulation disorders, inherited; cardiomyopathy, dilated; heart defects, congenital; heart diseases; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiac defects Gene Set

From GAD Gene-Disease Associations

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

birth defects Gene Set

From GAD Gene-Disease Associations

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

down syndrome; micronuclei, chromosome-defective Gene Set

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; micronuclei, chromosome-defective in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; micronuclei, chromosome-defective Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; micronuclei, chromosome-defective in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dilatation, pathologic; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dilatation, pathologic; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; lung neoplasms; micronuclei, chromosome-defective; neoplasm of lung Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; lung neoplasms; micronuclei, chromosome-defective; neoplasm of lung in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathies; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathies; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

familial defective apolipoprotein b-100 in a chinese man Gene Set

From GAD Gene-Disease Associations

genes associated with the disease familial defective apolipoprotein b-100 in a chinese man in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anencephaly; folic acid deficiency; neural tube defects; pregnancy complications; spinal dysraphism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anencephaly; folic acid deficiency; neural tube defects; pregnancy complications; spinal dysraphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial fibrillation; heart septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial fibrillation; heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

axial skeletal defects Gene Set

From GAD Gene-Disease Associations

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

left-right laterality defects Gene Set

From GAD Gene-Disease Associations

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

heart septal defects, ventricular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

human spermatogenic defect Gene Set

From GAD Gene-Disease Associations

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

abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

down syndrome; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects and preeclampsia Gene Set

From GAD Gene-Disease Associations

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

neural tube defects Gene Set

From GAD Gene-Disease Associations

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

color vision defects; retinal degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease color vision defects; retinal degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart septal defects, atrial; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart septal defects, atrial; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

defective heparin binding associated Gene Set

From GAD Gene-Disease Associations

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

flushing; micronuclei, chromosome-defective Gene Set

From GAD Gene-Disease Associations

genes associated with the disease flushing; micronuclei, chromosome-defective in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital Gene Set

From GAD Gene-Disease Associations

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

neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

down syndrome; heart defects, congenital; hypertension, pulmonary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; heart defects, congenital; hypertension, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ductus arteriosus, patent; heart septal defects, atrial Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ductus arteriosus, patent; heart septal defects, atrial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; micronuclei, chromosome-defective Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; micronuclei, chromosome-defective in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

visual field defects Gene Set

From GAD Gene-Disease Associations

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

heart defects, congenital; hyperhomocysteinemia; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; hyperhomocysteinemia; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects; pregnancy complications Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele Gene Set

From GAD Gene-Disease Associations

genes associated with the disease thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; spinal dysraphism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; spinal dysraphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; micronuclei, chromosome-defective; radiation injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; micronuclei, chromosome-defective; radiation injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

double outlet right ventricle; heart defects, congenital; pulmonary atresia; tetralogy of fallot; transposition of great vessels; truncus arteriosus, persistent Gene Set

From GAD Gene-Disease Associations

genes associated with the disease double outlet right ventricle; heart defects, congenital; pulmonary atresia; tetralogy of fallot; transposition of great vessels; truncus arteriosus, persistent in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital goiter and defective tg synthesis. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital goiter and defective tg synthesis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; neural tube defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; neural tube defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart septal defects Gene Set

From GAD Gene-Disease Associations

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

heart septal defects, ventricular; hypertension, pulmonary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart septal defects, ventricular; hypertension, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects; spinal dysraphism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects; spinal dysraphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

defectiveness Gene Set

From GeneRIF Biological Term Annotations

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

defects Gene Set

From GeneRIF Biological Term Annotations

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

defectsaffected Gene Set

From GeneRIF Biological Term Annotations

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

defective Gene Set

From GeneRIF Biological Term Annotations

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

defect Gene Set

From GeneRIF Biological Term Annotations

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

Conotruncal heart defects Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Conotruncal heart defects phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

conotruncal defect Gene Set

From GWASdb SNP-Phenotype Associations

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

thyroid hormone receptor defect Gene Set

From HPO Gene-Disease Associations

genes associated with the thyroid hormone receptor defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

progressive visual field defects Gene Set

From HPO Gene-Disease Associations

genes associated with the progressive visual field defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

ventricular septal defect Gene Set

From HPO Gene-Disease Associations

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

midline defect of mandible Gene Set

From HPO Gene-Disease Associations

genes associated with the midline defect of mandible phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

vertebral segmentation defect Gene Set

From HPO Gene-Disease Associations

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

electron transfer flavoprotein-ubiquinone oxidoreductase defect Gene Set

From HPO Gene-Disease Associations

genes associated with the electron transfer flavoprotein-ubiquinone oxidoreductase defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

secundum atrial septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the secundum atrial septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

lung segmentation defects Gene Set

From HPO Gene-Disease Associations

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

dynein arm defect of respiratory motile cilia Gene Set

From HPO Gene-Disease Associations

genes associated with the dynein arm defect of respiratory motile cilia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

inlet ventricular septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the inlet ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

thyroid defect in oxidation and organification of iodide Gene Set

From HPO Gene-Disease Associations

genes associated with the thyroid defect in oxidation and organification of iodide phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

adrenocorticotropin (acth) receptor (acthr) defect Gene Set

From HPO Gene-Disease Associations

genes associated with the adrenocorticotropin (acth) receptor (acthr) defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

sacral segmentation defect Gene Set

From HPO Gene-Disease Associations

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

pulmonary valve defects Gene Set

From HPO Gene-Disease Associations

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

abdominal wall defect Gene Set

From HPO Gene-Disease Associations

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

visual field defect Gene Set

From HPO Gene-Disease Associations

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

defective dna repair after ultraviolet radiation damage Gene Set

From HPO Gene-Disease Associations

genes associated with the defective dna repair after ultraviolet radiation damage phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

mitochondrial respiratory chain defects Gene Set

From HPO Gene-Disease Associations

genes associated with the mitochondrial respiratory chain defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

defective lymphocyte apoptosis Gene Set

From HPO Gene-Disease Associations

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

symmetrical, oval parietal bone defects Gene Set

From HPO Gene-Disease Associations

genes associated with the symmetrical, oval parietal bone defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

atrioventricular canal defect with right ventricle aorta and pulmonary atresia Gene Set

From HPO Gene-Disease Associations

genes associated with the atrioventricular canal defect with right ventricle aorta and pulmonary atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

defective b cell activation Gene Set

From HPO Gene-Disease Associations

genes associated with the defective b cell activation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

muscular ventricular septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the muscular ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

defect in the atrial septum Gene Set

From HPO Gene-Disease Associations

genes associated with the defect in the atrial septum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the distal phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the distal phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital septal defect Gene Set

From HPO Gene-Disease Associations

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

skull defect Gene Set

From HPO Gene-Disease Associations

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

osteolytic defects of the hand bones Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the hand bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

forearm reduction defects Gene Set

From HPO Gene-Disease Associations

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

cervical segmentation defect Gene Set

From HPO Gene-Disease Associations

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

atrioventricular canal defect Gene Set

From HPO Gene-Disease Associations

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

perimembranous ventricular septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the perimembranous ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

midline defect of the nose Gene Set

From HPO Gene-Disease Associations

genes associated with the midline defect of the nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

asymmetric, linear skin defects Gene Set

From HPO Gene-Disease Associations

genes associated with the asymmetric, linear skin defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

complete atrioventricular canal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the complete atrioventricular canal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

defective dehydrogenation of isovaleryl coa and butyryl coa Gene Set

From HPO Gene-Disease Associations

genes associated with the defective dehydrogenation of isovaleryl coa and butyryl coa phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

defective b cell differentiation Gene Set

From HPO Gene-Disease Associations

genes associated with the defective b cell differentiation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

large central visual field defect Gene Set

From HPO Gene-Disease Associations

genes associated with the large central visual field defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

conotruncal defect Gene Set

From HPO Gene-Disease Associations

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

primum atrial septal defect Gene Set

From HPO Gene-Disease Associations

genes associated with the primum atrial septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Heart Septal Defects, Ventricular Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Heart Septal Defects, Ventricular phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Endocardial Cushion Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Heart Defects, Congenital Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Color Vision Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Heart Septal Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Heart Septal Defects, Atrial Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Heart Septal Defects, Atrial phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Micronuclei, Chromosome-Defective Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Neural Tube Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Mannose-P-dolichol utilization defect 1 protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mannose-P-dolichol utilization defect 1 protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Defective-in-cullin neddylation protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Defective-in-cullin neddylation protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

atrial septal defect Gene Set

From MPO Gene-Phenotype Associations

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

ventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

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

defective assembly of class i molecules Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the defective assembly of class i molecules phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

perimembraneous ventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the perimembraneous ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

defective assembly of class ii molecules Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the defective assembly of class ii molecules phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial atrioventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

inlet ventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the inlet ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

double outlet right ventricle with atrioventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the double outlet right ventricle with atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

iodide oxidation defect Gene Set

From MPO Gene-Phenotype Associations

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

aorticopulmonary septal defect Gene Set

From MPO Gene-Phenotype Associations

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

double outlet right ventricle, ventricular defect committed to aorta Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the double outlet right ventricle, ventricular defect committed to aorta phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

muscular ventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the muscular ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ostium primum atrial septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ostium primum atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

complete atrioventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the complete atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ostium secundum atrial septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ostium secundum atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

defective intracellular transport of class i molecules Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the defective intracellular transport of class i molecules phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

atrioventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

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

skeletal defects, genital hypoplasia, and mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

schizophrenia, neurophysiologic defect in Gene Set

From OMIM Gene-Disease Associations

genes associated with the schizophrenia, neurophysiologic defect in phenotype from the curated OMIM Gene-Disease Associations dataset.

{atrioventricular septal defect, susceptibility to, 1} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {atrioventricular septal defect, susceptibility to, 1} phenotype from the curated OMIM Gene-Disease Associations dataset.

hirschsprung disease, cardiac defects, and autonomic dysfunction Gene Set

From OMIM Gene-Disease Associations

genes associated with the hirschsprung disease, cardiac defects, and autonomic dysfunction phenotype from the curated OMIM Gene-Disease Associations dataset.

{neural tube defects, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {neural tube defects, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

natural killer cell and glucocorticoid deficiency with dna repair defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the natural killer cell and glucocorticoid deficiency with dna repair defect phenotype from the curated OMIM Gene-Disease Associations dataset.

ventricular septal defect 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ventricular septal defect 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ventricular septal defect 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ventricular septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

forebrain defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the forebrain defects phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital heart defects, nonsyndromic, 1, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, nonsyndromic, 1, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital heart defects, multiple types, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, multiple types, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital heart defects, multiple types, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, multiple types, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

selective t-cell defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the selective t-cell defect phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

{neural tube defects, folate-sensitive, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {neural tube defects, folate-sensitive, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

left ventricular noncompaction 1, with or without congenital heart defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the left ventricular noncompaction 1, with or without congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset.

myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated OMIM Gene-Disease Associations dataset.

atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 4 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.

neural tube defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the neural tube defects phenotype from the curated OMIM Gene-Disease Associations dataset.

ventricular septal defect 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ventricular septal defect 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardiac conduction defect, nonspecific Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardiac conduction defect, nonspecific phenotype from the curated OMIM Gene-Disease Associations dataset.

alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

{atrioventricular septal defect, susceptibility to, 2} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {atrioventricular septal defect, susceptibility to, 2} phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, congenital heart defects, and posterior embryotoxon Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated OMIM Gene-Disease Associations dataset.

oocyte maturation defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the oocyte maturation defect phenotype from the curated OMIM Gene-Disease Associations dataset.

atrioventricular septal defect 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrioventricular septal defect 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrioventricular septal defect 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrioventricular septal defect 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrioventricular septal defect 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrioventricular septal defect 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 7, with or without av conduction defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 7, with or without av conduction defects phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital heart defects, nonsyndromic, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, nonsyndromic, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

pancreatic agenesis and congenital heart defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the pancreatic agenesis and congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset.

{cardiac conduction defect, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {cardiac conduction defect, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective PAPSS2 causes SEMD-PA Gene Set

From Reactome Pathways

proteins participating in the Defective PAPSS2 causes SEMD-PA pathway from the Reactome Pathways dataset.

Defective FMO3 causes Trimethylaminuria (TMAU) Gene Set

From Reactome Pathways

proteins participating in the Defective FMO3 causes Trimethylaminuria (TMAU) pathway from the Reactome Pathways dataset.

Defective MAOA causes Brunner syndrome (BRUNS) Gene Set

From Reactome Pathways

proteins participating in the Defective MAOA causes Brunner syndrome (BRUNS) pathway from the Reactome Pathways dataset.

Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3) pathway from the Reactome Pathways dataset.

Defective ALG8 causes ALG8-CDG (CDG-1h) Gene Set

From Reactome Pathways

proteins participating in the Defective ALG8 causes ALG8-CDG (CDG-1h) pathway from the Reactome Pathways dataset.

Defective MGAT2 causes MGAT2-CDG (CDG-2a) Gene Set

From Reactome Pathways

proteins participating in the Defective MGAT2 causes MGAT2-CDG (CDG-2a) pathway from the Reactome Pathways dataset.

Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) pathway from the Reactome Pathways dataset.

Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Gene Set

From Reactome Pathways

proteins participating in the Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway from the Reactome Pathways dataset.

Defective MMAB causes methylmalonic aciduria type cblB Gene Set

From Reactome Pathways

proteins participating in the Defective MMAB causes methylmalonic aciduria type cblB pathway from the Reactome Pathways dataset.

Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) pathway from the Reactome Pathways dataset.

Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) Gene Set

From Reactome Pathways

proteins participating in the Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) pathway from the Reactome Pathways dataset.

Defective CYP19A1 causes Aromatase excess syndrome (AEXS) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP19A1 causes Aromatase excess syndrome (AEXS) pathway from the Reactome Pathways dataset.

Defective ACY1 causes encephalopathy Gene Set

From Reactome Pathways

proteins participating in the Defective ACY1 causes encephalopathy pathway from the Reactome Pathways dataset.

Defects in cobalamin (B12) metabolism Gene Set

From Reactome Pathways

proteins participating in the Defects in cobalamin (B12) metabolism pathway from the Reactome Pathways dataset.

Defective CYP1B1 causes Glaucoma Gene Set

From Reactome Pathways

proteins participating in the Defective CYP1B1 causes Glaucoma pathway from the Reactome Pathways dataset.

Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B) pathway from the Reactome Pathways dataset.

Defective AMN causes hereditary megaloblastic anemia 1 Gene Set

From Reactome Pathways

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

Defective RFT1 causes RFT1-CDG (CDG-1n) Gene Set

From Reactome Pathways

proteins participating in the Defective RFT1 causes RFT1-CDG (CDG-1n) pathway from the Reactome Pathways dataset.

Defective ALG6 causes ALG6-CDG (CDG-1c) Gene Set

From Reactome Pathways

proteins participating in the Defective ALG6 causes ALG6-CDG (CDG-1c) pathway from the Reactome Pathways dataset.

Defective MMAA causes methylmalonic aciduria type cblA Gene Set

From Reactome Pathways

proteins participating in the Defective MMAA causes methylmalonic aciduria type cblA pathway from the Reactome Pathways dataset.

Defective CHSY1 causes TPBS Gene Set

From Reactome Pathways

proteins participating in the Defective CHSY1 causes TPBS pathway from the Reactome Pathways dataset.

Defective EXT2 causes exostoses 2 Gene Set

From Reactome Pathways

proteins participating in the Defective EXT2 causes exostoses 2 pathway from the Reactome Pathways dataset.

Defective B3GAT3 causes JDSSDHD Gene Set

From Reactome Pathways

proteins participating in the Defective B3GAT3 causes JDSSDHD pathway from the Reactome Pathways dataset.

Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Gene Set

From Reactome Pathways

proteins participating in the Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway from the Reactome Pathways dataset.

Defective ALG9 causes ALG9-CDG (CDG-1l) Gene Set

From Reactome Pathways

proteins participating in the Defective ALG9 causes ALG9-CDG (CDG-1l) pathway from the Reactome Pathways dataset.

Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX) pathway from the Reactome Pathways dataset.

Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Gene Set

From Reactome Pathways

proteins participating in the Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway from the Reactome Pathways dataset.

Defective GGT1 causes Glutathionuria (GLUTH) Gene Set

From Reactome Pathways

proteins participating in the Defective GGT1 causes Glutathionuria (GLUTH) pathway from the Reactome Pathways dataset.

Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) pathway from the Reactome Pathways dataset.

Defective ALG1 causes ALG1-CDG (CDG-1k) Gene Set

From Reactome Pathways

proteins participating in the Defective ALG1 causes ALG1-CDG (CDG-1k) pathway from the Reactome Pathways dataset.

Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Gene Set

From Reactome Pathways

proteins participating in the Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway from the Reactome Pathways dataset.

Defective OPLAH causes 5-oxoprolinase deficiency (OPLAHD) Gene Set

From Reactome Pathways

proteins participating in the Defective OPLAH causes 5-oxoprolinase deficiency (OPLAHD) pathway from the Reactome Pathways dataset.

Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS) Gene Set

From Reactome Pathways

proteins participating in the Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS) pathway from the Reactome Pathways dataset.

Defective MAT1A causes Methionine adenosyltransferase deficiency (MATD) Gene Set

From Reactome Pathways

proteins participating in the Defective MAT1A causes Methionine adenosyltransferase deficiency (MATD) pathway from the Reactome Pathways dataset.

Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A) pathway from the Reactome Pathways dataset.

Defective EXT1 causes exostoses 1, TRPS2 and CHDS Gene Set

From Reactome Pathways

proteins participating in the Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway from the Reactome Pathways dataset.

Defective MPDU1 causes MPDU1-CDG (CDG-1f) Gene Set

From Reactome Pathways

proteins participating in the Defective MPDU1 causes MPDU1-CDG (CDG-1f) pathway from the Reactome Pathways dataset.

Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5) pathway from the Reactome Pathways dataset.

Defective CUBN causes hereditary megaloblastic anemia 1 Gene Set

From Reactome Pathways

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

Defects in vitamin and cofactor metabolism Gene Set

From Reactome Pathways

proteins participating in the Defects in vitamin and cofactor metabolism pathway from the Reactome Pathways dataset.

Defective GIF causes intrinsic factor deficiency Gene Set

From Reactome Pathways

proteins participating in the Defective GIF causes intrinsic factor deficiency pathway from the Reactome Pathways dataset.

Defective UGT1A4 causes hyperbilirubinemia Gene Set

From Reactome Pathways

proteins participating in the Defective UGT1A4 causes hyperbilirubinemia pathway from the Reactome Pathways dataset.

Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) Gene Set

From Reactome Pathways

proteins participating in the Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway from the Reactome Pathways dataset.

Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56) pathway from the Reactome Pathways dataset.

Defective ALG11 causes ALG11-CDG (CDG-1p) Gene Set

From Reactome Pathways

proteins participating in the Defective ALG11 causes ALG11-CDG (CDG-1p) pathway from the Reactome Pathways dataset.

Defective SLC26A2 causes chondrodysplasias Gene Set

From Reactome Pathways

proteins participating in the Defective SLC26A2 causes chondrodysplasias pathway from the Reactome Pathways dataset.

Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Gene Set

From Reactome Pathways

proteins participating in the Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway from the Reactome Pathways dataset.

Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) pathway from the Reactome Pathways dataset.

Defective TCN2 causes hereditary megaloblastic anemia Gene Set

From Reactome Pathways

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

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

From Reactome Pathways

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

Defective MUT causes methylmalonic aciduria mut type Gene Set

From Reactome Pathways

proteins participating in the Defective MUT causes methylmalonic aciduria mut type pathway from the Reactome Pathways dataset.

Defective MAN1B1 causes MRT15 Gene Set

From Reactome Pathways

proteins participating in the Defective MAN1B1 causes MRT15 pathway from the Reactome Pathways dataset.

Defective CHST6 causes MCDC1 Gene Set

From Reactome Pathways

proteins participating in the Defective CHST6 causes MCDC1 pathway from the Reactome Pathways dataset.

Defective ALG2 causes ALG2-CDG (CDG-1i) Gene Set

From Reactome Pathways

proteins participating in the Defective ALG2 causes ALG2-CDG (CDG-1i) pathway from the Reactome Pathways dataset.

Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) pathway from the Reactome Pathways dataset.

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

From Reactome Pathways

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

Defective CHST14 causes EDS, musculocontractural type Gene Set

From Reactome Pathways

proteins participating in the Defective CHST14 causes EDS, musculocontractural type pathway from the Reactome Pathways dataset.

Defective AHCY causes Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) Gene Set

From Reactome Pathways

proteins participating in the Defective AHCY causes Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) pathway from the Reactome Pathways dataset.

Defective CD320 causes methylmalonic aciduria Gene Set

From Reactome Pathways

proteins participating in the Defective CD320 causes methylmalonic aciduria pathway from the Reactome Pathways dataset.

Defects in biotin (Btn) metabolism Gene Set

From Reactome Pathways

proteins participating in the Defects in biotin (Btn) metabolism pathway from the Reactome Pathways dataset.

Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) Gene Set

From Reactome Pathways

proteins participating in the Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) pathway from the Reactome Pathways dataset.

Defective ALG12 causes ALG12-CDG (CDG-1g) Gene Set

From Reactome Pathways

proteins participating in the Defective ALG12 causes ALG12-CDG (CDG-1g) pathway from the Reactome Pathways dataset.

Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) pathway from the Reactome Pathways dataset.

Defective UGT1A1 causes hyperbilirubinemia Gene Set

From Reactome Pathways

proteins participating in the Defective UGT1A1 causes hyperbilirubinemia pathway from the Reactome Pathways dataset.

Defective ALG3 causes ALG3-CDG (CDG-1d) Gene Set

From Reactome Pathways

proteins participating in the Defective ALG3 causes ALG3-CDG (CDG-1d) pathway from the Reactome Pathways dataset.

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

From Reactome Pathways

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

Defective CHST3 causes SEDCJD Gene Set

From Reactome Pathways

proteins participating in the Defective CHST3 causes SEDCJD pathway from the Reactome Pathways dataset.

Defective BTD causes biotidinase deficiency Gene Set

From Reactome Pathways

proteins participating in the Defective BTD causes biotidinase deficiency pathway from the Reactome Pathways dataset.

Defective B4GALT7 causes EDS, progeroid type Gene Set

From Reactome Pathways

proteins participating in the Defective B4GALT7 causes EDS, progeroid type pathway from the Reactome Pathways dataset.

Defective MOGS causes MOGS-CDG (CDG-2b) Gene Set

From Reactome Pathways

proteins participating in the Defective MOGS causes MOGS-CDG (CDG-2b) pathway from the Reactome Pathways dataset.

Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD) Gene Set

From Reactome Pathways

proteins participating in the Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD) pathway from the Reactome Pathways dataset.

Defective HLCS causes multiple carboxylase deficiency Gene Set

From Reactome Pathways

proteins participating in the Defective HLCS causes multiple carboxylase deficiency pathway from the Reactome Pathways dataset.

Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2 Gene Set

From Reactome Pathways

proteins participating in the Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2 pathway from the Reactome Pathways dataset.

Defective CYP11B1 causes Adrenal hyperplasia 4 (AH4) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP11B1 causes Adrenal hyperplasia 4 (AH4) pathway from the Reactome Pathways dataset.

Processing-defective Hh variants abrogate ligand secretion Gene Set

From Reactome Pathways

proteins participating in the Processing-defective Hh variants abrogate ligand secretion pathway from the Reactome Pathways dataset.

Glucose transporter type 1 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

transmembrane transporter complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the transmembrane transporter complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

atp-binding cassette (abc) transporter complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the atp-binding cassette (abc) transporter complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial intermembrane space protein transporter complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial intermembrane space protein transporter complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

transporter complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

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

transmembrane transporter complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

atp-binding cassette (abc) transporter complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the atp-binding cassette (abc) transporter complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mitochondrial intermembrane space protein transporter complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial intermembrane space protein transporter complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

tripartite atp-independent periplasmic transporter complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the tripartite atp-independent periplasmic transporter complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

vacuolar transporter chaperone complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

atp-binding cassette (abc) transporter complex, transmembrane substrate-binding subunit-containing Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the atp-binding cassette (abc) transporter complex, transmembrane substrate-binding subunit-containing cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

transporter complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

Glucose Transporter Type 2 Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Glucose Transporter Type 2 in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

glucose transporter type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glucose transporter type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

serotonin transporter- pro-inflammatory bias Gene Set

From GAD Gene-Disease Associations

genes associated with the disease serotonin transporter- pro-inflammatory bias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

serotonin transporter protein Gene Set

From GAD Gene-Disease Associations

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

serotonin transporter availability Gene Set

From GAD Gene-Disease Associations

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

norepinephrine-transporter deficiency Gene Set

From GAD Gene-Disease Associations

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

dopamine transporter availability Gene Set

From GAD Gene-Disease Associations

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

striatal dopamine transporter Gene Set

From GAD Gene-Disease Associations

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

transporter Gene Set

From GeneRIF Biological Term Annotations

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

regulation of transmembrane transporter activity Gene Set

From GO Biological Process Annotations

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

regulation of transporter activity Gene Set

From GO Biological Process Annotations

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

positive regulation of transporter activity Gene Set

From GO Biological Process Annotations

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

positive regulation of sodium ion transmembrane transporter activity Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of sodium ion transmembrane transporter activity biological process from the curated GO Biological Process Annotations dataset.

negative regulation of transporter activity Gene Set

From GO Biological Process Annotations

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

regulation of calcium ion transmembrane transporter activity Gene Set

From GO Biological Process Annotations

genes participating in the regulation of calcium ion transmembrane transporter activity biological process from the curated GO Biological Process Annotations dataset.

regulation of cholesterol transporter activity Gene Set

From GO Biological Process Annotations

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

regulation of potassium ion transmembrane transporter activity Gene Set

From GO Biological Process Annotations

genes participating in the regulation of potassium ion transmembrane transporter activity biological process from the curated GO Biological Process Annotations dataset.

negative regulation of sodium ion transmembrane transporter activity Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of sodium ion transmembrane transporter activity biological process from the curated GO Biological Process Annotations dataset.

negative regulation of cholesterol transporter activity Gene Set

From GO Biological Process Annotations

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

positive regulation of calcium ion transmembrane transporter activity Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of calcium ion transmembrane transporter activity biological process from the curated GO Biological Process Annotations dataset.

negative regulation of potassium ion transmembrane transporter activity Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of potassium ion transmembrane transporter activity biological process from the curated GO Biological Process Annotations dataset.

regulation of sodium ion transmembrane transporter activity Gene Set

From GO Biological Process Annotations

genes participating in the regulation of sodium ion transmembrane transporter activity biological process from the curated GO Biological Process Annotations dataset.

positive regulation of rubidium ion transmembrane transporter activity Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of rubidium ion transmembrane transporter activity biological process from the curated GO Biological Process Annotations dataset.

negative regulation of calcium ion transmembrane transporter activity Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of calcium ion transmembrane transporter activity biological process from the curated GO Biological Process Annotations dataset.

regulation of rubidium ion transmembrane transporter activity Gene Set

From GO Biological Process Annotations

genes participating in the regulation of rubidium ion transmembrane transporter activity biological process from the curated GO Biological Process Annotations dataset.

negative regulation of ion transmembrane transporter activity Gene Set

From GO Biological Process Annotations

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

positive regulation of potassium ion transmembrane transporter activity Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of potassium ion transmembrane transporter activity biological process from the curated GO Biological Process Annotations dataset.

regulation of ion transmembrane transporter activity Gene Set

From GO Biological Process Annotations

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

positive regulation of ion transmembrane transporter activity Gene Set

From GO Biological Process Annotations

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

negative regulation of rubidium ion transmembrane transporter activity Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of rubidium ion transmembrane transporter activity biological process from the curated GO Biological Process Annotations dataset.

transmembrane transporter complex Gene Set

From GO Cellular Component Annotations

proteins localized to the transmembrane transporter complex cellular component from the curated GO Cellular Component Annotations dataset.

atp-binding cassette (abc) transporter complex Gene Set

From GO Cellular Component Annotations

proteins localized to the atp-binding cassette (abc) transporter complex cellular component from the curated GO Cellular Component Annotations dataset.

mitochondrial intermembrane space protein transporter complex Gene Set

From GO Cellular Component Annotations

proteins localized to the mitochondrial intermembrane space protein transporter complex cellular component from the curated GO Cellular Component Annotations dataset.

transporter complex Gene Set

From GO Cellular Component Annotations

proteins localized to the transporter complex cellular component from the curated GO Cellular Component Annotations dataset.

sulfur amino acid transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the sulfur amino acid transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

phosphate ion transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

formate uptake transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

iodide transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

glycine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

cofactor transporter activity Gene Set

From GO Molecular Function Annotations

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

udp-xylose transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the udp-xylose transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

monosaccharide transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

l-proline transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the l-proline transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

acetyl-coa transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the acetyl-coa transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

protein transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

putrescine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

coenzyme transporter activity Gene Set

From GO Molecular Function Annotations

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

substrate-specific transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the substrate-specific transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

nitrate transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

mannose transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

hexose transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

high-affinity l-ornithine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the high-affinity l-ornithine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

glucoside transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

secondary active monocarboxylate transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the secondary active monocarboxylate transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

branched-chain amino acid transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the branched-chain amino acid transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

pyrimidine nucleotide-sugar transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the pyrimidine nucleotide-sugar transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

high-affinity lysine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the high-affinity lysine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

sulfur compound transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the sulfur compound transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

l-asparagine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the l-asparagine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

sterol transporter activity Gene Set

From GO Molecular Function Annotations

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

enterobactin transporter activity Gene Set

From GO Molecular Function Annotations

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

dipeptide transporter activity Gene Set

From GO Molecular Function Annotations

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

l-tyrosine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the l-tyrosine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

l-alanine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the l-alanine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

amino acid transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the amino acid transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

prostaglandin transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

cysteine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

deoxynucleotide transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

fructose transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

alanine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

macromolecule transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

l-glutamate transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the l-glutamate transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

l-lysine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the l-lysine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

protein transporter activity Gene Set

From GO Molecular Function Annotations

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

lipoprotein transporter activity Gene Set

From GO Molecular Function Annotations

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

short-chain fatty acid uptake transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the short-chain fatty acid uptake transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

phosphatidylcholine transporter activity Gene Set

From GO Molecular Function Annotations

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

quaternary ammonium group transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the quaternary ammonium group transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

c4-dicarboxylate transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the c4-dicarboxylate transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

amine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

secondary active transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the secondary active transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

copper ion transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

glucose transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

nicotinate transporter activity Gene Set

From GO Molecular Function Annotations

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

oxalate transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

l-histidine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the l-histidine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

bile acid transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the bile acid transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

tetracycline transporter activity Gene Set

From GO Molecular Function Annotations

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

alcohol transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

nucleotide transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

l-glutamine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the l-glutamine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

p-p-bond-hydrolysis-driven transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the p-p-bond-hydrolysis-driven transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

amide transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

l-threonine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the l-threonine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

l-leucine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the l-leucine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

udp-glucuronic acid transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the udp-glucuronic acid transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.