Name

cerebral creatine deficiency syndrome Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease cerebral creatine deficiency syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

cerebral creatine deficiency syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral creatine deficiency syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral creatine deficiency syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebral creatine deficiency syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral creatine deficiency syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebral creatine deficiency syndrome 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral creatine deficiency syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebral hemorrhage; cerebral hemorrhages; cerebral infarction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral hemorrhage; cerebral hemorrhages; cerebral infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral amyloid angiopathy; cerebral hemorrhage; cerebral hemorrhages Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral amyloid angiopathy; cerebral hemorrhage; cerebral hemorrhages in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral hemorrhage; cerebral hemorrhages; cerebral palsy; infant, premature, diseases; leukomalacia, periventricular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral hemorrhage; cerebral hemorrhages; cerebral palsy; infant, premature, diseases; leukomalacia, periventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

Creatine deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

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

Creatine deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Creatine deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

cerebral hemorrhage; cerebral hemorrhages; cerebrovascular disorders; hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral hemorrhage; cerebral hemorrhages; cerebrovascular disorders; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral hemorrhage; cerebral infarction; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral hemorrhage; cerebral infarction; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral hemorrhage; cerebral hemorrhages; dementia, vascular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral hemorrhage; cerebral hemorrhages; dementia, vascular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amyloidosis, familial; cerebral hemorrhage; cerebral hemorrhages Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amyloidosis, familial; cerebral hemorrhage; cerebral hemorrhages in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brain edema; brain injuries; cerebral hemorrhage, traumatic; skull fractures; traumatic cerebral hemorrhage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain edema; brain injuries; cerebral hemorrhage, traumatic; skull fractures; traumatic cerebral hemorrhage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; brain ischemia; cerebral hemorrhage; cerebral hemorrhages; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; brain ischemia; cerebral hemorrhage; cerebral hemorrhages; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alzheimer disease; alzheimer's disease; cerebral amyloid angiopathy; cerebral infarction; vascular diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; alzheimer's disease; cerebral amyloid angiopathy; cerebral infarction; vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral hemorrhage; cerebral hemorrhages; hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral hemorrhage; cerebral hemorrhages; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; cerebral hemorrhage; cerebral hemorrhages; ischemia; stroke; subarachnoid hemorrhage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; cerebral hemorrhage; cerebral hemorrhages; ischemia; stroke; subarachnoid hemorrhage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral infarct; cerebral arteriopathy Gene Set

From GAD Gene-Disease Associations

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

apoplexy; cerebral hemorrhage; cerebral hemorrhages; intracranial hemorrhages; stroke; subarachnoid hemorrhage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; cerebral hemorrhage; cerebral hemorrhages; intracranial hemorrhages; stroke; subarachnoid hemorrhage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral amyloid angiopathy; cerebral hemorrhage; hypertension; intracranial arteriosclerosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral amyloid angiopathy; cerebral hemorrhage; hypertension; intracranial arteriosclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral hemorrhage; cerebral hemorrhages Gene Set

From GAD Gene-Disease Associations

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

apoplexy; brain ischemia; cerebral hemorrhage; cerebral hemorrhages; hypertension; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; brain ischemia; cerebral hemorrhage; cerebral hemorrhages; hypertension; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral hemorrhage; cerebral hemorrhages; memory disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral hemorrhage; cerebral hemorrhages; memory disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral hemorrhage; cerebral hemorrhages; hemorrhage; hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral hemorrhage; cerebral hemorrhages; hemorrhage; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

creatine kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

mitochondrial creatine kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial creatine kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

cytosolic creatine kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cytosolic creatine kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

Creatine Gene Set

From CTD Gene-Chemical Interactions

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

CREATINE PHOSPHOKINASE, ELEVATED SERUM Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CREATINE PHOSPHOKINASE, ELEVATED SERUM from the curated CTD Gene-Disease Associations dataset.

Creatine Gene Set

From DrugBank Drug Targets

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

creatine Gene Set

From GeneRIF Biological Term Annotations

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

creatine metabolic process Gene Set

From GO Biological Process Annotations

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

creatine biosynthetic process Gene Set

From GO Biological Process Annotations

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

creatine transmembrane transport Gene Set

From GO Biological Process Annotations

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

creatine transport Gene Set

From GO Biological Process Annotations

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

creatine kinase activity Gene Set

From GO Molecular Function Annotations

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

creatine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

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

creatine:sodium symporter activity Gene Set

From GO Molecular Function Annotations

genes performing the creatine:sodium symporter activity molecular function from the curated GO Molecular Function Annotations dataset.

Creatine Gene Set

From HMDB Metabolites of Enzymes

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

elevated serum creatine phosphokinase Gene Set

From HPO Gene-Disease Associations

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

mildly elevated creatine phosphokinase Gene Set

From HPO Gene-Disease Associations

genes associated with the mildly elevated creatine phosphokinase phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal levels of creatine kinase in blood Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal levels of creatine kinase in blood phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of creatine metabolism Gene Set

From HPO Gene-Disease Associations

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

creatine biosynthesis Gene Set

From HumanCyc Pathways

proteins participating in the creatine biosynthesis pathway from the HumanCyc Pathways dataset.

creatine-phosphate biosynthesis Gene Set

From HumanCyc Pathways

proteins participating in the creatine-phosphate biosynthesis pathway from the HumanCyc Pathways dataset.

Sodium:neurotransmitter symporter, creatine Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sodium:neurotransmitter symporter, creatine protein domain from the InterPro Predicted Protein Domain Annotations dataset.

increased creatine kinase level Gene Set

From MPO Gene-Phenotype Associations

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

increased circulating creatine kinase level Gene Set

From MPO Gene-Phenotype Associations

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

decreased creatine kinase level Gene Set

From MPO Gene-Phenotype Associations

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

abnormal creatine level Gene Set

From MPO Gene-Phenotype Associations

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

increased creatine level Gene Set

From MPO Gene-Phenotype Associations

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

decreased circulating creatine kinase level Gene Set

From MPO Gene-Phenotype Associations

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

decreased circulating creatine level Gene Set

From MPO Gene-Phenotype Associations

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

increased circulating creatine level Gene Set

From MPO Gene-Phenotype Associations

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

abnormal circulating creatine kinase level Gene Set

From MPO Gene-Phenotype Associations

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

abnormal circulating creatine level Gene Set

From MPO Gene-Phenotype Associations

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

decreased creatine level Gene Set

From MPO Gene-Phenotype Associations

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

abnormal creatine kinase level Gene Set

From MPO Gene-Phenotype Associations

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

creatine phosphokinase, elevated serum Gene Set

From OMIM Gene-Disease Associations

genes associated with the creatine phosphokinase, elevated serum phenotype from the curated OMIM Gene-Disease Associations dataset.

[creatine kinase, brain type, ectopic expression of] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [creatine kinase, brain type, ectopic expression of] phenotype from the curated OMIM Gene-Disease Associations dataset.

Creatine metabolism Gene Set

From Reactome Pathways

proteins participating in the Creatine metabolism pathway from the Reactome Pathways dataset.

Cerebral folate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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.

antithrombin iii deficiency; cerebral infarction; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antithrombin iii deficiency; cerebral infarction; venous thrombosis in GWAS and other genetic association datasets from the GAD 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.

digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular hypertrophy-cerebral syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular hypertrophy-cerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome from the curated CTD Gene-Disease Associations dataset.

cerebral-cerebellar-coloboma syndrome, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral-cerebellar-coloboma syndrome, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Neuraminidase deficiency with beta-galactosidase deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

choline deficiency; dna damage; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

anemia, iron-deficiency; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From Reactome Pathways

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

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

From Reactome Pathways

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

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

From Reactome Pathways

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

Lynch syndrome:Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease 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.

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.

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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.

Glucose transporter type 1 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome caused by tenascin-X deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ehlers-Danlos syndrome caused by tenascin-X deficiency from the curated CTD Gene-Disease Associations dataset.

Growth mental deficiency syndrome of Myhre Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Growth mental deficiency syndrome of Myhre from the curated CTD Gene-Disease Associations dataset.

GLUT1 DEFICIENCY SYNDROME 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GLUT1 DEFICIENCY SYNDROME 2 from the curated CTD Gene-Disease Associations dataset.

Leukocyte-Adhesion Deficiency Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte-Adhesion Deficiency Syndrome from the curated CTD Gene-Disease Associations dataset.

MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Immunologic Deficiency Syndromes Gene Set

From CTD Gene-Disease Associations

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

leukocyte-adhesion deficiency syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

rh deficiency syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

alpha 1-antitrypsin deficiency; aortic stenosis, supravalvular; dislocations; scoliosis; williams syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; aortic stenosis, supravalvular; dislocations; scoliosis; williams syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leigh syndrome and cytochrome c oxidase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leigh syndrome and cytochrome c oxidase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

magnesium deficiency; wasting syndrome Gene Set

From GAD Gene-Disease Associations

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

bronchiectasis; immunologic deficiency syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchiectasis; immunologic deficiency syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cryopyrin-associated periodic syndromes; familial mediterranean fever; mevalonate kinase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cryopyrin-associated periodic syndromes; familial mediterranean fever; mevalonate kinase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glucosephosphate dehydrogenase deficiency; hemoglobinuria; syndrome Gene Set

From GAD Gene-Disease Associations

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

chromosomal instability; immunologic deficiency syndromes; lymphoma, non-hodgkin; microsatellite instability Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosomal instability; immunologic deficiency syndromes; lymphoma, non-hodgkin; microsatellite instability in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

immunologic deficiency syndromes; severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease immunologic deficiency syndromes; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Simian Acquired Immune Deficiency Syndrome_T lymphocyte_GSE4785 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Simian Acquired Immune Deficiency Syndrome_T lymphocyte_GSE4785 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Immunologic Deficiency Syndromes Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor 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.

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.

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.

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.

glut1 deficiency syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the glut1 deficiency syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

glut1 deficiency syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the glut1 deficiency syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

autoinflammation, antibody deficiency, and immune dysregulation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoinflammation, antibody deficiency, and immune dysregulation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenic syndrome, congenital, associated with acetylcholine receptor 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.

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.

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.

Cerebral nuclei Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Cerebral nuclei relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Cerebral cortex Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Cerebral cortex relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Frontal pole, cerebral cortex Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Frontal pole, cerebral cortex relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Cerebral palsy, spastic quadriplegic, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral palsy, spastic quadriplegic, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral palsy, spastic quadriplegic, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral palsy, spastic quadriplegic, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral palsy, spastic quadriplegic, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral palsy, spastic quadriplegic, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral palsy, spastic quadriplegic, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral palsy, spastic quadriplegic, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypomyelination, global cerebral Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypomyelination, global cerebral phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral cavernous malformations 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral cavernous malformations 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral cavernous malformations 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral cavernous malformations 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cerebral amyloid angiopathy, Icelandic type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cerebral amyloid angiopathy, Icelandic type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral hemorrhage with amyloidosis, hereditary, Dutch type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebral hemorrhage with amyloidosis, hereditary, Dutch type from the curated CTD Gene-Disease Associations dataset.

Cerebral Infarction Gene Set

From CTD Gene-Disease Associations

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

Cerebral Amyloid Angiopathy, App-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebral Amyloid Angiopathy, App-Related from the curated CTD Gene-Disease Associations dataset.

Vasculopathy, Retinal, With Cerebral Leukodystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vasculopathy, Retinal, With Cerebral Leukodystrophy from the curated CTD Gene-Disease Associations dataset.

Infarction, Middle Cerebral Artery Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Infarction, Middle Cerebral Artery from the curated CTD Gene-Disease Associations dataset.

Cerebral Palsy, Ataxic, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebral Palsy, Ataxic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Cerebral Palsy, Spastic Quadriplegic, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebral Palsy, Spastic Quadriplegic, 2 from the curated CTD Gene-Disease Associations dataset.

Diffuse Cerebral Sclerosis of Schilder Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diffuse Cerebral Sclerosis of Schilder from the curated CTD Gene-Disease Associations dataset.

Cerebral Palsy Gene Set

From CTD Gene-Disease Associations

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

Cerebral Cavernous Malformations 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebral Cavernous Malformations 2 from the curated CTD Gene-Disease Associations dataset.

Hypomyelination, Global Cerebral Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypomyelination, Global Cerebral from the curated CTD Gene-Disease Associations dataset.

Cerebral Amyloid Angiopathy Gene Set

From CTD Gene-Disease Associations

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

Cerebral Cavernous Malformations 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebral Cavernous Malformations 3 from the curated CTD Gene-Disease Associations dataset.

Cerebral Palsy, Spastic Quadriplegic, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebral Palsy, Spastic Quadriplegic, 1 from the curated CTD Gene-Disease Associations dataset.

Cerebral Hemorrhage Gene Set

From CTD Gene-Disease Associations

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

Cerebral Amyloid Angiopathy, Familial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebral Amyloid Angiopathy, Familial from the curated CTD Gene-Disease Associations dataset.

cerebral degeneration Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

cerebral arterial disease Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

cerebral angioma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral primitive neuroectodermal tumor Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral palsy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral sarcoidosis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

middle cerebral artery infarction Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral atherosclerosis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ataxic cerebral palsy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral malaria Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral artery occlusion Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral convexity meningioma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral degeneration Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

transient cerebral ischemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

spastic cerebral palsy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

anterior cerebral artery infarction Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral neuroblastoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral infarction Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral arteritis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral meningioma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral arterial disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral falx meningioma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral ventricle cancer Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

dyskinetic cerebral palsy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral lipidosis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral lymphoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral amyloid angiopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral amyloid angiopathy-related hemorrhage. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral amyloid angiopathy-related hemorrhage. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral palsy Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

cerebral infarction; memory disorders; subarachnoid hemorrhage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral infarction; memory disorders; subarachnoid hemorrhage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

essential tremor; cerebral ataxia; multiple-system atropy; parkinsonism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease essential tremor; cerebral ataxia; multiple-system atropy; parkinsonism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral cavernous malformations Gene Set

From GAD Gene-Disease Associations

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

cerebral atherosclerosis Gene Set

From GAD Gene-Disease Associations

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

cerebral infarction; diabetes complications; hemochromatosis; hypertension; intracranial arteriosclerosis; intracranial thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral infarction; diabetes complications; hemochromatosis; hypertension; intracranial arteriosclerosis; intracranial thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

cerebral infarction; diabetes mellitus type ii; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

cerebral infarct; stroke, lacunar Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral infarct; stroke, lacunar in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alzheimer disease; alzheimer's disease; cerebral amyloid angiopathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; alzheimer's disease; cerebral amyloid angiopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral infarction; thrombosis Gene Set

From GAD Gene-Disease Associations

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

hypertension; cerebral infarction Gene Set

From GAD Gene-Disease Associations

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

microangiopathy- related cerebral damage (marcd) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease microangiopathy- related cerebral damage (marcd) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, malaria related; malaria, cerebral Gene Set

From GAD Gene-Disease Associations

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

cerebral palsy; hemiplegia Gene Set

From GAD Gene-Disease Associations

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

atherosclerosis; cerebral infarction; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atherosclerosis; cerebral infarction; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

malaria, cerebral; malaria, falciparum; parasitemia Gene Set

From GAD Gene-Disease Associations

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

apoplexy; brain ischemia; carotid artery stenosis; carotid stenosis; infarction, middle cerebral artery; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; brain ischemia; carotid artery stenosis; carotid stenosis; infarction, middle cerebral artery; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atherosclerosis; cerebral infarction Gene Set

From GAD Gene-Disease Associations

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

cerebral arteriopathy Gene Set

From GAD Gene-Disease Associations

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

cerebral hemorrhage; Gene Set

From GAD Gene-Disease Associations

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

cerebral amyloid angiopathy Gene Set

From GAD Gene-Disease Associations

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

cerebral circulation Gene Set

From GAD Gene-Disease Associations

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

cerebral infarction; glucose intolerance; hyperhomocysteinemia; hyperlipidemias; hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral infarction; glucose intolerance; hyperhomocysteinemia; hyperlipidemias; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral ischemia Gene Set

From GAD Gene-Disease Associations

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

cerebral hemorrhage; stroke Gene Set

From GAD Gene-Disease Associations

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

cerebral ischemic events Gene Set

From GAD Gene-Disease Associations

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

apoplexy; atherosclerosis; cerebral infarction; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; atherosclerosis; cerebral infarction; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carotid artery diseases; cerebral infarction; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carotid artery diseases; cerebral infarction; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myocardial infarct; lipoprotein; cerebral infarct Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myocardial infarct; lipoprotein; cerebral infarct in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

malaria, cerebral; malaria, falciparum Gene Set

From GAD Gene-Disease Associations

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

cerebral infarction; stroke Gene Set

From GAD Gene-Disease Associations

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

cerebral palsy; Gene Set

From GAD Gene-Disease Associations

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

cerebral small-vessel disease Gene Set

From GAD Gene-Disease Associations

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

toxoplasmosis, cerebral; toxoplasmosis, congenital; toxoplasmosis, ocular Gene Set

From GAD Gene-Disease Associations

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

aphasia; brain ischemia; cardiovascular diseases; cerebral hemorrhage; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aphasia; brain ischemia; cardiovascular diseases; cerebral hemorrhage; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral aging Gene Set

From GAD Gene-Disease Associations

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

cerebral hemorrhage; intracranial arteriovenous malformations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral hemorrhage; intracranial arteriovenous malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral amyloid angiopathy; senile plaques Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral amyloid angiopathy; senile plaques in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brain infarction; cerebral arterial diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain infarction; cerebral arterial diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral white matter hyperintensities Gene Set

From GAD Gene-Disease Associations

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

malaria; malaria, cerebral Gene Set

From GAD Gene-Disease Associations

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

malarial anemia and cerebral malaria Gene Set

From GAD Gene-Disease Associations

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

brain ischemia; cerebral infarction; intracranial aneurysm; subarachnoid hemorrhage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain ischemia; cerebral infarction; intracranial aneurysm; subarachnoid hemorrhage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral infarction; intracranial embolism and thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral infarction; intracranial embolism and thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral palsy; hemiplegia; virus diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral palsy; hemiplegia; virus diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brain ischemia; cerebral hemorrhage; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain ischemia; cerebral hemorrhage; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diffuse cerebral sclerosis of schilder; headache; seizures; [d]pain in head nos Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diffuse cerebral sclerosis of schilder; headache; seizures; [d]pain in head nos in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cholesterol, hdl; triglycerides; coronary artery disease; cerebral infarction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cholesterol, hdl; triglycerides; coronary artery disease; cerebral infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral infarct Gene Set

From GAD Gene-Disease Associations

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

cerebral palsy; pregnancy complications, infectious; virus diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral palsy; pregnancy complications, infectious; virus diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brain ischemia; cerebral arterial diseases; intracranial embolism; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain ischemia; cerebral arterial diseases; intracranial embolism; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral amyloid angiopathy. Gene Set

From GAD Gene-Disease Associations

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

brain ischemia; cerebral infarction Gene Set

From GAD Gene-Disease Associations

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

cerebral infarction; dementia; hypoalphalipoproteinemias; intracranial arteriosclerosis; intracranial thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral infarction; dementia; hypoalphalipoproteinemias; intracranial arteriosclerosis; intracranial thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atherothrombotic cerebral infarction. Gene Set

From GAD Gene-Disease Associations

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

cerebral malaria Gene Set

From GAD Gene-Disease Associations

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

cerebral amyloid angiopathy; plaque, amyloid Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral amyloid angiopathy; plaque, amyloid in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral hemorrhage Gene Set

From GAD Gene-Disease Associations

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

apoplexy; brain ischemia; cerebral infarction; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; brain ischemia; cerebral infarction; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral infarct, atherothrombotic Gene Set

From GAD Gene-Disease Associations

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

cerebral infarction Gene Set

From GAD Gene-Disease Associations

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

cardiovascular diseases; cerebral hemorrhage; myocardial infarction; myocardial ischemia; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; cerebral hemorrhage; myocardial infarction; myocardial ischemia; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brain infarction; cadasil; cerebral hemorrhage; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain infarction; cadasil; cerebral hemorrhage; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral hemorrhage; leukomalacia, periventricular; sepsis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral hemorrhage; leukomalacia, periventricular; sepsis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral arteriopathy; leukoencephalopathy Gene Set

From GAD Gene-Disease Associations

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

birth weight; cerebral palsy; intracranial thrombosis; obstetric labor complications; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; cerebral palsy; intracranial thrombosis; obstetric labor complications; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brain edema; infarction, middle cerebral artery Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain edema; infarction, middle cerebral artery in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral infarction; intracranial arteriosclerosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral infarction; intracranial arteriosclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brain edema; cerebral hemorrhage; Gene Set

From GAD Gene-Disease Associations

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

cerebral hemorrhage; diabetes mellitus; hypercholesterolemia; hypertension; myocardial ischemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral hemorrhage; diabetes mellitus; hypercholesterolemia; hypertension; myocardial ischemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; cerebral arterial diseases; coronary disease; hypercholesterolemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; cerebral arterial diseases; coronary disease; hypercholesterolemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral white matter lesions Gene Set

From GAD Gene-Disease Associations

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

cerebral circulation in smokers Gene Set

From GAD Gene-Disease Associations

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

brain infarction; cerebral amyloid angiopathy; dementia; diabetes mellitus; hyperinsulinism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain infarction; cerebral amyloid angiopathy; dementia; diabetes mellitus; hyperinsulinism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral hemorrhage; recurrence; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral hemorrhage; recurrence; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral infarction; hypertension Gene Set

From GAD Gene-Disease Associations

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

cerebral infarction, atherosclerotic Gene Set

From GAD Gene-Disease Associations

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

apoplexy; brain ischemia; infarction, middle cerebral artery; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; brain ischemia; infarction, middle cerebral artery; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral infarction; hypoxia-ischemia, brain Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral infarction; hypoxia-ischemia, brain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral infarction; myocardial infarction Gene Set

From GAD Gene-Disease Associations

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

cerebral infarction. Gene Set

From GAD Gene-Disease Associations

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

cerebral infarction; Gene Set

From GAD Gene-Disease Associations

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

cerebral infarction; hypertension; intracranial arteriosclerosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebral infarction; hypertension; intracranial arteriosclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; cerebral arterial diseases; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; cerebral arterial diseases; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

malaria, cerebral Gene Set

From GAD Gene-Disease Associations

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

infarction, middle cerebral artery Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infarction, middle cerebral artery in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebral Gene Set

From GeneRIF Biological Term Annotations

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

cerebral cortex tangential migration using cell-axon interactions Gene Set

From GO Biological Process Annotations

genes participating in the cerebral cortex tangential migration using cell-axon interactions biological process from the curated GO Biological Process Annotations dataset.

cerebral cortex neuron differentiation Gene Set

From GO Biological Process Annotations

genes participating in the cerebral cortex neuron differentiation biological process from the curated GO Biological Process Annotations dataset.

cerebral cortex radial glia guided migration Gene Set

From GO Biological Process Annotations

genes participating in the cerebral cortex radial glia guided migration biological process from the curated GO Biological Process Annotations dataset.

cerebral cortex tangential migration Gene Set

From GO Biological Process Annotations

genes participating in the cerebral cortex tangential migration biological process from the curated GO Biological Process Annotations dataset.

cerebral cortex development Gene Set

From GO Biological Process Annotations

genes participating in the cerebral cortex development biological process from the curated GO Biological Process Annotations dataset.

cerebral cortex regionalization Gene Set

From GO Biological Process Annotations

genes participating in the cerebral cortex regionalization biological process from the curated GO Biological Process Annotations dataset.

extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration Gene Set

From GO Biological Process Annotations

genes participating in the extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration biological process from the curated GO Biological Process Annotations dataset.

cerebral cortex radially oriented cell migration Gene Set

From GO Biological Process Annotations

genes participating in the cerebral cortex radially oriented cell migration biological process from the curated GO Biological Process Annotations dataset.

cell motility involved in cerebral cortex radial glia guided migration Gene Set

From GO Biological Process Annotations

genes participating in the cell motility involved in cerebral cortex radial glia guided migration biological process from the curated GO Biological Process Annotations dataset.

neuronal-glial interaction involved in cerebral cortex radial glia guided migration Gene Set

From GO Biological Process Annotations

genes participating in the neuronal-glial interaction involved in cerebral cortex radial glia guided migration biological process from the curated GO Biological Process Annotations dataset.

cerebral cortex cell migration Gene Set

From GO Biological Process Annotations

genes participating in the cerebral cortex cell migration biological process from the curated GO Biological Process Annotations dataset.

modulation of microtubule cytoskeleton involved in cerebral cortex radial glia guided migration Gene Set

From GO Biological Process Annotations

genes participating in the modulation of microtubule cytoskeleton involved in cerebral cortex radial glia guided migration biological process from the curated GO Biological Process Annotations dataset.

layer formation in cerebral cortex Gene Set

From GO Biological Process Annotations

genes participating in the layer formation in cerebral cortex biological process from the curated GO Biological Process Annotations dataset.

negative regulation of cell motility involved in cerebral cortex radial glia guided migration Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of cell motility involved in cerebral cortex radial glia guided migration biological process from the curated GO Biological Process Annotations dataset.

substrate-dependent cerebral cortex tangential migration Gene Set

From GO Biological Process Annotations

genes participating in the substrate-dependent cerebral cortex tangential migration biological process from the curated GO Biological Process Annotations dataset.

cerebral cortex gabaergic interneuron fate commitment Gene Set

From GO Biological Process Annotations

genes participating in the cerebral cortex gabaergic interneuron fate commitment biological process from the curated GO Biological Process Annotations dataset.

cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration Gene Set

From GO Biological Process Annotations

genes participating in the cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration biological process from the curated GO Biological Process Annotations dataset.

cerebral cortex gabaergic interneuron migration Gene Set

From GO Biological Process Annotations

genes participating in the cerebral cortex gabaergic interneuron migration biological process from the curated GO Biological Process Annotations dataset.

cerebral cortex gabaergic interneuron differentiation Gene Set

From GO Biological Process Annotations

genes participating in the cerebral cortex gabaergic interneuron differentiation biological process from the curated GO Biological Process Annotations dataset.

White matter hyperintensity volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the White matter hyperintensity volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

cerebral arterial disease Gene Set

From GWASdb SNP-Disease Associations

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

abnormality of the cerebral subcortex Gene Set

From GWASdb SNP-Phenotype Associations

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

abnormality of cerebral artery Gene Set

From GWASdb SNP-Phenotype Associations

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

abnormality of the cerebral white matter Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of the cerebral white matter phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of the cerebral vasculature Gene Set

From GWASdb SNP-Phenotype Associations

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

hypointensity of cerebral white matter on mri Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the hypointensity of cerebral white matter on mri phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

diffuse cerebral sclerosis Gene Set

From GWASdb SNP-Phenotype Associations

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

cerebral ischemia Gene Set

From GWASdb SNP-Phenotype Associations

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

abnormality of the cerebral cortex Gene Set

From GWASdb SNP-Phenotype Associations

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

cerebral aneurysm Gene Set

From GWASdb SNP-Phenotype Associations

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

cerebral cortex Gene Set

From HPA Tissue Protein Expression Profiles

proteins with high or low expression in cerebral cortex relative to other tissues from the HPA Tissue Protein Expression Profiles dataset.

small cerebral cortex Gene Set

From HPO Gene-Disease Associations

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

cerebral palsy Gene Set

From HPO Gene-Disease Associations

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

cerebral edema Gene Set

From HPO Gene-Disease Associations

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

cerebral aneurysm Gene Set

From HPO Gene-Disease Associations

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

cerebral white matter atrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the cerebral white matter atrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cerebral venous thrombosis Gene Set

From HPO Gene-Disease Associations

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

abnormality of cerebral artery Gene Set

From HPO Gene-Disease Associations

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

cerebral atrophy Gene Set

From HPO Gene-Disease Associations

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

recurrent cerebral hemorrhage Gene Set

From HPO Gene-Disease Associations

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

diffuse demyelination of the cerebral white matter Gene Set

From HPO Gene-Disease Associations

genes associated with the diffuse demyelination of the cerebral white matter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cerebral arteriovenous malformation Gene Set

From HPO Gene-Disease Associations

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

cerebral amyloid angiopathy Gene Set

From HPO Gene-Disease Associations

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

diffuse swelling of cerebral white matter Gene Set

From HPO Gene-Disease Associations

genes associated with the diffuse swelling of cerebral white matter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cerebral calcification Gene Set

From HPO Gene-Disease Associations

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

cerebral ischemia Gene Set

From HPO Gene-Disease Associations

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

arteriosclerosis of small cerebral arteries Gene Set

From HPO Gene-Disease Associations

genes associated with the arteriosclerosis of small cerebral arteries phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

subcortical cerebral atrophy Gene Set

From HPO Gene-Disease Associations

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

tortuous cerebral arteries Gene Set

From HPO Gene-Disease Associations

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

cerebral vasculitis Gene Set

From HPO Gene-Disease Associations

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

increased cerebral lipofuscin Gene Set

From HPO Gene-Disease Associations

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

abnormality of the cerebral vasculature Gene Set

From HPO Gene-Disease Associations

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

thick cerebral cortex Gene Set

From HPO Gene-Disease Associations

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

cerebral hypomyelination Gene Set

From HPO Gene-Disease Associations

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

abnormality of the cerebral subcortex Gene Set

From HPO Gene-Disease Associations

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

cerebral degeneration Gene Set

From HPO Gene-Disease Associations

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

cerebral cortical neurodegeneration Gene Set

From HPO Gene-Disease Associations

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

diffuse cerebral sclerosis Gene Set

From HPO Gene-Disease Associations

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

abnormality of the cerebral ventricles Gene Set

From HPO Gene-Disease Associations

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

cerebral hamartomata Gene Set

From HPO Gene-Disease Associations

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

neuronal loss in the cerebral cortex Gene Set

From HPO Gene-Disease Associations

genes associated with the neuronal loss in the cerebral cortex phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cerebral hemorrhage Gene Set

From HPO Gene-Disease Associations

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

multifocal cerebral white matter abnormalities Gene Set

From HPO Gene-Disease Associations

genes associated with the multifocal cerebral white matter abnormalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cerebral cortical atrophy Gene Set

From HPO Gene-Disease Associations

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

abnormality of the cerebral cortex Gene Set

From HPO Gene-Disease Associations

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

cerebral dysmyelination Gene Set

From HPO Gene-Disease Associations

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

generalized cerebral atrophy/hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the generalized cerebral atrophy/hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

diffuse cerebral atrophy Gene Set

From HPO Gene-Disease Associations

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

cerebral hypoplasia Gene Set

From HPO Gene-Disease Associations

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

cerebral inclusion bodies Gene Set

From HPO Gene-Disease Associations

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

abnormality of the cerebral white matter Gene Set

From HPO Gene-Disease Associations

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

frontotemporal cerebral atrophy Gene Set

From HPO Gene-Disease Associations

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

hypointensity of cerebral white matter on mri Gene Set

From HPO Gene-Disease Associations

genes associated with the hypointensity of cerebral white matter on mri phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Cerebral Hemorrhage, Traumatic Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Cerebral Infarction Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Malaria, Cerebral Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Infarction, Middle Cerebral Artery Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Infarction, Middle Cerebral Artery phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Toxoplasmosis, Cerebral Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Cerebral Arterial Diseases Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Diffuse Cerebral Sclerosis of Schilder Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Diffuse Cerebral Sclerosis of Schilder phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Dominance, Cerebral Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Cerebral Palsy Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Cerebral Amyloid Angiopathy Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Infarction, Anterior Cerebral Artery Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Infarction, Anterior Cerebral Artery phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Cerebral Ventricle Neoplasms Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Cerebral Hemorrhage Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

cerebral edema Gene Set

From MPO Gene-Phenotype Associations

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

ectopic cerebral cortex pyramidal cells Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ectopic cerebral cortex pyramidal cells phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

cerebral arteriovenous malformation Gene Set

From MPO Gene-Phenotype Associations

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

abnormal cerebral aqueduct morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cerebral aqueduct morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent cerebral aqueduct Gene Set

From MPO Gene-Phenotype Associations

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

delaminated cerebral cortex Gene Set

From MPO Gene-Phenotype Associations

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

decreased cerebral infarction size Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased cerebral infarction size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

thin cerebral cortex Gene Set

From MPO Gene-Phenotype Associations

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

thickened cerebral cortex Gene Set

From MPO Gene-Phenotype Associations

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

cerebral cortex pyramidal cell degeneration Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the cerebral cortex pyramidal cell degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased cerebral cortex pyramidal cell number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased cerebral cortex pyramidal cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal stratification in cerebral cortex Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal stratification in cerebral cortex phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal cerebral cortex morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cerebral cortex morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

cerebral aqueductal stenosis Gene Set

From MPO Gene-Phenotype Associations

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

abnormal cerebral cortex pyramidal cell morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cerebral cortex pyramidal cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased cerebral infarction size Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased cerebral infarction size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

{malaria, cerebral, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {malaria, cerebral, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebral cavernous malformations 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral cavernous malformations 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebral amyloid angiopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral amyloid angiopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, dystonia, and cerebral hypomyelination Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, dystonia, and cerebral hypomyelination phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebral cavernous malformations-1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral cavernous malformations-1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebral cavernous malformations-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral cavernous malformations-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebral amyloid angiopathy, prnp-related Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral amyloid angiopathy, prnp-related phenotype from the curated OMIM Gene-Disease Associations dataset.

{malaria, cerebral, reduced risk of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {malaria, cerebral, reduced risk of} phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebral palsy, spastic quadriplegic, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral palsy, spastic quadriplegic, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

hypomyelination, global cerebral Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypomyelination, global cerebral phenotype from the curated OMIM Gene-Disease Associations dataset.

{cerebral infarction, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {cerebral infarction, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, progressive, seizures, and cerebral and cerebellar atrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebral palsy, spastic quadriplegic, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebral palsy, spastic quadriplegic, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

vasculopathy, retinal, with cerebral leukodystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the vasculopathy, retinal, with cerebral leukodystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebral-cortex Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term cerebral-cortex in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

cerebral lobe Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue cerebral lobe from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

cerebral hemisphere Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue cerebral hemisphere from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

cerebral cortex Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue cerebral cortex from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

cerebral lobe Gene Set

From TISSUES Experimental Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue cerebral lobe in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.

cerebral cortex Gene Set

From TISSUES Experimental Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue cerebral cortex in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.

cerebral peduncle Gene Set

From TISSUES Experimental Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue cerebral peduncle in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.

cerebral gyrus Gene Set

From TISSUES Experimental Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue cerebral gyrus in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.

cerebral hemisphere Gene Set

From TISSUES Experimental Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue cerebral hemisphere in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.

right middle cerebral artery Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue right middle cerebral artery in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

embryonic cerebral cortex Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue embryonic cerebral cortex in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

cerebral lobe Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue cerebral lobe in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

cerebral ganglion Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue cerebral ganglion in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

cerebral giant cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue cerebral giant cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

cerebral gyrus Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue cerebral gyrus in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

cerebral granule cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue cerebral granule cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

cerebral peduncle Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue cerebral peduncle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

middle cerebral artery Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue middle cerebral artery in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

cerebral cortical neuron Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue cerebral cortical neuron in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

cerebral gray matter Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue cerebral gray matter in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

cerebral cortex Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue cerebral cortex in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

cerebral white matter Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue cerebral white matter in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

left middle cerebral artery Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue left middle cerebral artery in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

cerebral subcortex Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue cerebral subcortex in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

cerebral artery Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue cerebral artery in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

cerebral hemisphere Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue cerebral hemisphere in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

Lynch syndrome:Turcot syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marfan's syndrome:Marfan's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marfan's syndrome:Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

IFAP syndrome with or without BRESHECK syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome I:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome I:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) from the curated CTD Gene-Disease Associations dataset.

Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD Gene-Disease Associations dataset.

menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cornelia de lange syndrome; de lange syndrome Gene Set

From GAD Gene-Disease Associations

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

fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set

From GAD Gene-Disease Associations

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

pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

restless legs syndrome; tourette syndrome Gene Set

From GAD Gene-Disease Associations

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

endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

behcet syndrome; uveomeningoencephalitic syndrome Gene Set

From GAD Gene-Disease Associations

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

hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

melas syndrome; merrf syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

angelman syndrome; rett syndrome; seizures Gene Set

From GAD Gene-Disease Associations

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

arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

adult respiratory distress syndrome; respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

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

digeorge syndrome; memory disorders; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

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

adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult 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.

insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

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.

obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

digeorge syndrome; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

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

fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set

From GAD Gene-Disease Associations

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

haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set

From GAD Gene-Disease Associations

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

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.

inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

down syndrome; ehlers-danlos syndrome Gene Set

From GAD Gene-Disease Associations

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

arthritis; felty's syndrome; large granular lymphocyte syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis; felty's syndrome; large granular lymphocyte syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

insulin resistance; metabolic syndrome x; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart-hand syndrome, holt-oram syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart-hand syndrome, holt-oram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia Gene Set

From GAD Gene-Disease Associations

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

adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic 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.

aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

digeorge syndrome/velocardiofacial syndrome complex-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the digeorge syndrome/velocardiofacial syndrome complex-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ifap syndrome with or without bresheck syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Trifunctional protein deficiency with myopathy and neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bifunctional peroxisomal enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

X-linked ichthyosis with steryl-sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Phosphoglycerate dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Galactosylceramide beta-galactosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Isolated 17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Endplate acetylcholinesterase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Sepiapterin reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Methionine adenosyltransferase deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase E2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set

From ClinVar Gene-Phenotype Associations

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

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of ribose-5-phosphate isomerase Gene Set

From ClinVar Gene-Phenotype Associations

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

Kininogen deficiency, total Gene Set

From ClinVar Gene-Phenotype Associations

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

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 9 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

N-terminal acetyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement component 7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Birbeck granule deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glucocorticoid deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Glucocorticoid deficiency 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

SCID due to ADA deficiency, delayed onset Gene Set

From ClinVar Gene-Phenotype Associations

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

Properdin deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

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

PROPERDIN DEFICIENCY, TYPE II Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement factor d deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Methylmalonyl-CoA epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement component 8 deficiency type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Testosterone 17-beta-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Deficiency of 2-methylbutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of isobutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Phosphoserine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Carnitine acylcarnitine translocase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Succinyl-CoA acetoacetate transferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Carnitine palmitoyltransferase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Platelet-activating factor acetylhydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Gene Set

From ClinVar Gene-Phenotype Associations

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

Lipase deficiency combined Gene Set

From ClinVar Gene-Phenotype Associations

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

5-Oxoprolinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glucocorticoid deficiency with achalasia Gene Set

From ClinVar Gene-Phenotype Associations

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

Proopiomelanocortin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined Gene Set

From ClinVar Gene-Phenotype Associations

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

Intrinsic factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

21-hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glutaryl-CoA oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Corticosterone methyloxidase type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Thiopurine methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene Set

From ClinVar Gene-Phenotype Associations

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

Carnitine palmitoyltransferase II deficiency, infantile Gene Set

From ClinVar Gene-Phenotype Associations

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

Lactate dehydrogenase b deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 18 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 17 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 16 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 14 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 13 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 12 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 11 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 10 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of 3-hydroxyacyl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

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

Plasminogen deficiency, type I Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Molybdenum cofactor deficiency, complementation group C Gene Set

From ClinVar Gene-Phenotype Associations

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

Molybdenum cofactor deficiency, complementation group B Gene Set

From ClinVar Gene-Phenotype Associations

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

Molybdenum cofactor deficiency, complementation group A Gene Set

From ClinVar Gene-Phenotype Associations

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

Biotinidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal dominant isolated somatotropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypohidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of phosphoserine phosphatase Gene Set

From ClinVar Gene-Phenotype Associations

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

Isolated growth hormone deficiency type 1B Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of butyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

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

Anhidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

3 Methylcrotonyl-CoA carboxylase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of hyaluronoglucosaminidase Gene Set

From ClinVar Gene-Phenotype Associations

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

Sulfite oxidase deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

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

Plasminogen activator inhibitor type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 22 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 20 Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 21 Gene Set

From ClinVar Gene-Phenotype Associations

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

Monoamine oxidase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Factor V deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Adenine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glutamate formiminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypoglycemia with deficiency of glycogen synthetase in the liver Gene Set

From ClinVar Gene-Phenotype Associations

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

LEUKOCYTE ADHESION DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

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

Follicle-stimulating hormone deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

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

Ganglioside sialidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

C1q deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Interferon gamma receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Platelet glycoprotein IV deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

N-acetylaspartate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Adenylosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Triosephosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Aromatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary factor II deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Factor xiii, a subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex III deficiency, nuclear type 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex III deficiency, nuclear type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Multiple sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Corticosteroid-binding globulin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 15 Gene Set

From ClinVar Gene-Phenotype Associations

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

Corticosterone methyloxidase type 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement component 9 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Holocarboxylase synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

2,4-Dienoyl-CoA reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of glycerate kinase Gene Set

From ClinVar Gene-Phenotype Associations

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

Ataxia with vitamin E deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of galactokinase Gene Set

From ClinVar Gene-Phenotype Associations

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

ACTH deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

PROPERDIN DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

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

Carboxylesterase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Purine-nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Neonatal intrahepatic cholestasis caused by citrin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement component 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Antithrombin III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Inosine triphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Growth hormone deficiency with pituitary anomalies Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Ulna and fibula absence of with severe limb deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Homocysteinemia due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of pyrroline-5-carboxylate reductase Gene Set

From ClinVar Gene-Phenotype Associations

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

Immunodeficiency due to ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Sarcosine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Branched-chain ketoacid dehydrogenase kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

L-ferritin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Medium-chain acyl-coenzyme A dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Arginase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hepatic lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Factor X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase E3-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary factor IX deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

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

Alpha-fetoprotein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypermethioninemia due to adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Deficiency of iodide peroxidase Gene Set

From ClinVar Gene-Phenotype Associations

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

Glycosylphosphatidylinositol deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Leukocyte adhesion deficiency type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital lactase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Caspase-8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Phosphoglycerate kinase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Anaphylotoxin inactivator deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Cytochrome-c oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Enterokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency, primary, 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency, primary, 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency, primary, 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency, primary, 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Erythrocyte amp deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Factor VII deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Apolipoprotein a-i deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Gamma-aminobutyric acid transaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Myeloperoxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial phosphate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary factor XI deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

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

Porphobilinogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Very long chain acyl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

IRAK4 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Leukocyte adhesion deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Cortisone reductase deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Arginine:glycine amidinotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Methionine adenosyltransferase deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Muscle AMP deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Dihydropyrimidinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Dimethylglycine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of hydroxymethylglutaryl-CoA lyase Gene Set

From ClinVar Gene-Phenotype Associations

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

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase E1-alpha deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Isovaleryl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Cd59 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Ornithine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Sphingolipid activator protein 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of ferroxidase Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Deficiency of steroid 11-beta-monooxygenase Gene Set

From ClinVar Gene-Phenotype Associations

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

Lysosomal acid lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Dopamine beta hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Butyrylcholinesterase deficiency, fluoride-resistant, japanese type Gene Set

From ClinVar Gene-Phenotype Associations

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

UDPglucose-4-epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Homocystinuria due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of alpha-mannosidase Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Insulin-like growth factor I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Pyruvate carboxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Gluthathione synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Fumarase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of transaldolase Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial pyruvate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pyruvate dehydrogenase E1-beta deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

MASP2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Argininosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Prekallikrein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Chitotriosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Anti-plasmin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Prothrombin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial trifunctional protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

GTP cyclohydrolase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of malonyl-CoA decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

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

3 beta-Hydroxysteroid dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Succinate-semialdehyde dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

X-linked agammaglobulinemia with growth hormone deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked agammaglobulinemia with growth hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Okt4 epitope deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Okt4 epitope deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of acetyl-CoA acetyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Mineralocorticoid deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement 1s deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Dihydropteridine reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Mannose-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Myd88 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myd88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cd8 deficiency, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cd8 deficiency, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Acid-labile subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fructose-biphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement factor B deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Obesity, severe, due to leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Beta-hydroxyisobutyryl-CoA deacylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Beta-hydroxyisobutyryl-CoA deacylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor VIII deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

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

Proline dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Factor H deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Glutamine deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of aromatic-L-amino-acid decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of aromatic-L-amino-acid decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycine N-methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Ornithine carbamoyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Sucrase-isomaltase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Cholesterol monooxygenase (side-chain cleaving) deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cholesterol monooxygenase (side-chain cleaving) deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fucosyltransferase 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Asparagine synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Adenylate kinase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of butyrylcholine esterase Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of glycerol kinase Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of xanthine oxidase Gene Set

From ClinVar Gene-Phenotype Associations

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

Urocanate hydratase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

4-Hydroxyphenylpyruvate dioxygenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor xiii, b subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

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

Growth deficiency and mental retardation with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Combined deficiency of sialidase AND beta galactosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of (R)-20-hydroxysteroid dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of (R)-20-hydroxysteroid dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prolidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of beta-ureidopropionase Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of guanidinoacetate methyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

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

MYD88 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYD88 Deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal from the curated CTD Gene-Disease Associations dataset.

Anemia, Iron-Deficiency Gene Set

From CTD Gene-Disease Associations

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

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

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

Platelet Glycoprotein IV Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Platelet Glycoprotein IV Deficiency from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Phosphate Carrier Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Phosphate Carrier Deficiency from the curated CTD Gene-Disease Associations dataset.

Leukocyte Adhesion Deficiency, Type III Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte Adhesion Deficiency, Type III from the curated CTD Gene-Disease Associations dataset.

Prekallikrein Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylenetetrahydrofolate reductase deficiency Gene Set

From CTD Gene-Disease Associations

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

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 6-pyruvoyl-tetrahydropterin synthase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor XI Deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine palmitoyl transferase 1A deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine palmitoyl transferase 1A deficiency from the curated CTD Gene-Disease Associations dataset.

Preaxial deficiency, postaxial polydactyly and hypospadias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset.

THYROTROPIN-RELEASING HORMONE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THYROTROPIN-RELEASING HORMONE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Carbamoyl-Phosphate Synthase I Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Tyrosine Kinase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tyrosine Kinase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Properdin deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Properdin deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

COENZYME Q10 DEFICIENCY, PRIMARY, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COENZYME Q10 DEFICIENCY, PRIMARY, 1 from the curated CTD Gene-Disease Associations dataset.

Glutathione synthetase deficiency Gene Set

From CTD Gene-Disease Associations

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

Glucocorticoid Deficiency 2 Gene Set

From CTD Gene-Disease Associations

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

Aniridia cerebellar ataxia mental deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aniridia cerebellar ataxia mental deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Proopiomelanocortin Deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Glucocorticoid Deficiency 3 Gene Set

From CTD Gene-Disease Associations

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

Intrinsic Factor Deficiency Gene Set

From CTD Gene-Disease Associations

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

Adenosine monophosphate deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenosine monophosphate deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

alpha 1-Antitrypsin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease alpha 1-Antitrypsin Deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Plasminogen Deficiency, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Deficiency, Type I from the curated CTD Gene-Disease Associations dataset.

IgA Deficiency Gene Set

From CTD Gene-Disease Associations

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

Lipase deficiency combined Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

DNA Repair-Deficiency Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DNA Repair-Deficiency Disorders from the curated CTD Gene-Disease Associations dataset.

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

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

Enterokinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine Palmitoyltransferase II Deficiency, Late-Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Late-Onset from the curated CTD Gene-Disease Associations dataset.

Lactase Deficiency, Congenital Gene Set

From CTD Gene-Disease Associations

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

Lecithin Acyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Interleukin 2 Receptor, Alpha, Deficiency of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Interleukin 2 Receptor, Alpha, Deficiency of from the curated CTD Gene-Disease Associations dataset.

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From CTD Gene-Disease Associations

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

Beta ketothiolase deficiency Gene Set

From CTD Gene-Disease Associations

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

Transaldolase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Anti-plasmin deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

Succinyl-CoA:3-oxoacid CoA transferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Succinyl-CoA:3-oxoacid CoA transferase deficiency from the curated CTD Gene-Disease Associations dataset.

CD8 Deficiency, Familial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CD8 Deficiency, Familial from the curated CTD Gene-Disease Associations dataset.

Neuraminidase 1 deficiency Gene Set

From CTD Gene-Disease Associations

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

Folic Acid Deficiency Gene Set

From CTD Gene-Disease Associations

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

Lysosomal acid lipase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lysosomal acid lipase deficiency from the curated CTD Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From CTD Gene-Disease Associations

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

Vitamin B 12 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin B 12 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type II from the curated CTD Gene-Disease Associations dataset.

Familial HDL deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine-Acylcarnitine Translocase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine-Acylcarnitine Translocase Deficiency from the curated CTD Gene-Disease Associations dataset.

Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset.

Methylcobalamin Deficiency, CblG Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylcobalamin Deficiency, CblG Type from the curated CTD Gene-Disease Associations dataset.

Flaujeac factor deficiency Gene Set

From CTD Gene-Disease Associations

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

Ribose 5-Phosphate Isomerase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ribose 5-Phosphate Isomerase Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate dehydrogenase phosphatase deficiency from the curated CTD Gene-Disease Associations dataset.

VLCAD deficiency Gene Set

From CTD Gene-Disease Associations

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

18-Hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 18-Hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Complex III Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Complex III Deficiency from the curated CTD Gene-Disease Associations dataset.

PROPROTEIN CONVERTASE 1/3 DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PROPROTEIN CONVERTASE 1/3 DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

dopamine beta hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

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

Split-Hand/Foot Malformation With Long Bone Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Ornithine Carbamoyltransferase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

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

Protein Deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor 8 deficiency, acquired Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor 8 deficiency, acquired from the curated CTD Gene-Disease Associations dataset.

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 2 deficiency from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I from the curated CTD Gene-Disease Associations dataset.

Adenylosuccinate lyase deficiency Gene Set

From CTD Gene-Disease Associations

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

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

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

Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of from the curated CTD Gene-Disease Associations dataset.

Thiopurine S methyltranferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thiopurine S methyltranferase deficiency from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

3-Hydroxyacyl-CoA Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type IB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type IB from the curated CTD Gene-Disease Associations dataset.

Vitamin A Deficiency Gene Set

From CTD Gene-Disease Associations

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

Molybdenum cofactor deficiency Gene Set

From CTD Gene-Disease Associations

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

Split-Hand/Foot Malformation With Long Bone Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Kinase 1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoglycerate Kinase 1 Deficiency from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

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

Multiple Acyl Coenzyme A Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 from the curated CTD Gene-Disease Associations dataset.

Plasminogen Activator Inhibitor-1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Activator Inhibitor-1 Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase E2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase E2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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