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trichorhinophalangeal syndrome type ii Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease trichorhinophalangeal syndrome type ii from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
trichorhinophalangeal syndrome type ii Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease trichorhinophalangeal syndrome type ii in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
Trichorhinophalangeal syndrome type II Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Trichorhinophalangeal syndrome type II from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Trichorhinophalangeal syndrome type II Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Trichorhinophalangeal syndrome type II in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Trichorhinophalangeal syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trichorhinophalangeal syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Trichorhinophalangeal Syndrome, Type III Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trichorhinophalangeal Syndrome, Type III from the curated CTD Gene-Disease Associations dataset. |
TRICHORHINOPHALANGEAL SYNDROME, TYPE I Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease TRICHORHINOPHALANGEAL SYNDROME, TYPE I from the curated CTD Gene-Disease Associations dataset. |
trichorhinophalangeal syndrome type i Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease trichorhinophalangeal syndrome type i in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
trichorhinophalangeal syndrome, type iii Gene SetFrom OMIM Gene-Disease Associations genes associated with the trichorhinophalangeal syndrome, type iii phenotype from the curated OMIM Gene-Disease Associations dataset. |
trichorhinophalangeal syndrome, type i Gene SetFrom OMIM Gene-Disease Associations genes associated with the trichorhinophalangeal syndrome, type i phenotype from the curated OMIM Gene-Disease Associations dataset. |
Trichorhinophalangeal syndrome type I Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Trichorhinophalangeal syndrome type I from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Trichorhinophalangeal syndrome type I Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Trichorhinophalangeal syndrome type I in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Trichorhinophalangeal syndrome type III Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Trichorhinophalangeal syndrome type III in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Trichorhinophalangeal dysplasia type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trichorhinophalangeal dysplasia type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Trichorhinophalangeal Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Trichorhinophalangeal Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Trichorhinophalangeal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Trichorhinophalangeal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
trichorhinophalangeal Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term trichorhinophalangeal in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Trichorhinophalangeal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Trichorhinophalangeal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Trichorhinophalangeal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Trichorhinophalangeal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene SetFrom 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. |
albuminuria; chronic renal failure; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; glycosuria; kidney failure, chronic; proteinuria Gene SetFrom GAD Gene-Disease Associations genes associated with the disease albuminuria; chronic renal failure; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; glycosuria; kidney failure, chronic; proteinuria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 1; diabetes mellitus, type 2; hypoglycemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 1; diabetes mellitus, type 2; hypoglycemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atherosclerosis; coronary artery disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; fam hyperbetalipoproteinaemia; hyperlipoproteinemia type ii; hypertriglyceridemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atherosclerosis; coronary artery disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; fam hyperbetalipoproteinaemia; hyperlipoproteinemia type ii; hypertriglyceridemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; disease susceptibility; polyendocrinopathies, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; disease susceptibility; polyendocrinopathies, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy; genetic predisposition to disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy; genetic predisposition to disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension; rheumatoid arthritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic angiopathies; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic angiopathies; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; wolfram syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; wolfram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; metabolic syndrome x; obesity; overweight Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; metabolic syndrome x; obesity; overweight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; metabolic syndrome x Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; metabolic syndrome x in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; hypertension; insulin resistance; metabolic syndrome x; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hypertension; insulin resistance; metabolic syndrome x; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; metabolic syndrome x; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; metabolic syndrome x; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; metabolic syndrome x Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; metabolic syndrome x in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; metabolic syndrome x; myocardial ischemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; metabolic syndrome x; myocardial ischemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, type 2; metabolic syndrome x Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, type 2; metabolic syndrome x in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; metabolic syndrome x Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; metabolic syndrome x in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome Gene SetFrom 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. |
Lynch syndrome:Lynch syndrome:Lynch syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene SetFrom 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. |
diabetes mellitus type ii; diabetes mellitus, type 2; hyperinsulinism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hyperinsulinism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; hypertriglyceridemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hypertriglyceridemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance 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 SetFrom 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. |
diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; hypertension; kidney failure, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; hypertension; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; hypertrophy, left ventricular; left ventricular hypertrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hypertrophy, left ventricular; left ventricular hypertrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; glucose metabolism disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; glucose metabolism disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; hyperinsulinism; insulin resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hyperinsulinism; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; familial type 3 hyperlipoproteinaemia; hyperinsulinism; hyperlipoproteinemia type iii; peripheral vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; familial type 3 hyperlipoproteinaemia; hyperinsulinism; hyperlipoproteinemia type iii; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; hypertrophy; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hypertrophy; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; edema Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; edema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; hyperlipoproteinemia type i; hypertriglyceridemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; hyperlipoproteinemia type i; hypertriglyceridemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; kidney failure, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; kidney failure, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; hyperhomocysteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diabetic retinopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic retinopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; diabetes mellitus type ii; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; hemochromatosis; insulin resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hemochromatosis; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2; diabetes, type 1 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2; diabetes, type 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; body weight; diabetes mellitus type ii; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; body weight; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diabetic neuropathies; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic neuropathies; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
albuminuria; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease albuminuria; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic neuropathies; kidney failure, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic neuropathies; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial type 3 hyperlipoproteinaemia; hyperlipoproteinemia type iii Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial type 3 hyperlipoproteinaemia; hyperlipoproteinemia type iii in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus; diabetes mellitus type ii; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; hyperlipidemias; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hyperlipidemias; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; weight gain Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; weight gain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; hypertension; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hypertension; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
deafness; diabetes mellitus, type 1; diabetes mellitus, type 2; mitochondrial diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease deafness; diabetes mellitus, type 1; diabetes mellitus, type 2; mitochondrial diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; diabetic neuropathies; disease susceptibility Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; diabetic neuropathies; disease susceptibility in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; hearing disorders; hearing problem Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hearing disorders; hearing problem in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; chronic renal failure; diabetes complications; diabetes mellitus type ii; diabetes mellitus, type 2; kidney failure, chronic; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; chronic renal failure; diabetes complications; diabetes mellitus type ii; diabetes mellitus, type 2; kidney failure, chronic; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2 ; diabetes, type 1 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2 ; diabetes, type 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary artery disease; diabetes mellitus type ii; diabetes mellitus, type 2; dyslipidemias Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary artery disease; diabetes mellitus type ii; diabetes mellitus, type 2; dyslipidemias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
calcinosis; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease calcinosis; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; hypertension Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
colorectal neoplasms; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; iron overload Gene SetFrom GAD Gene-Disease Associations genes associated with the disease colorectal neoplasms; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; endometrial neoplasms; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; endometrial neoplasms; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acute-phase reaction; diabetes mellitus type ii; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acute-phase reaction; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atherosclerosis; diabetes complications; diabetes mellitus type ii; diabetes mellitus, type 2; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atherosclerosis; diabetes complications; diabetes mellitus type ii; diabetes mellitus, type 2; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; diabetes mellitus type ii; diabetes mellitus, type 2; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; diabetes mellitus type ii; diabetes mellitus, type 2; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diabetes, gestational; gestational diabetes mellitus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetes, gestational; gestational diabetes mellitus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
albuminuria; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease albuminuria; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; atrial fibrillation; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, type 2; multiple sclerosis; rheumatoid arthritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; atrial fibrillation; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, type 2; multiple sclerosis; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenoma; adrenal gland neoplasms; adrenal neoplasm; diabetes mellitus type ii; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenoma; adrenal gland neoplasms; adrenal neoplasm; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; glomerulonephritis; kidney failure, chronic; polycystic kidney, autosomal dominant Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; glomerulonephritis; kidney failure, chronic; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; memory disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; memory disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arteriosclerosis; diabetes mellitus type ii; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arteriosclerosis; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; diabetes mellitus type ii; diabetes mellitus, type 2; thinness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; diabetes mellitus type ii; diabetes mellitus, type 2; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 1; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 1; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcoholism; diabetes mellitus type ii; diabetes mellitus, type 2; pancreatic neoplasm; pancreatic neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcoholism; diabetes mellitus type ii; diabetes mellitus, type 2; pancreatic neoplasm; pancreatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; obesity; weight loss Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; obesity; weight loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; hypertension; insulin resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; hypertension; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; peripheral vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; overweight Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; glucose intolerance; overweight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; body weight; diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; pancreatic neoplasm; pancreatic neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; pancreatic neoplasm; pancreatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 1; diabetes mellitus, type 2; insulin resistance; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 1; diabetes mellitus, type 2; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; kidney failure; kidney; failure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; kidney failure; kidney; failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2; hypertension; diabetes, type 1 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2; hypertension; diabetes, type 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary stenosis; diabetes mellitus type ii; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary stenosis; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; hypercholesterolemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hypercholesterolemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
angina pectoris; coronary artery disease; coronary restenosis; diabetes mellitus type ii; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease angina pectoris; coronary artery disease; coronary restenosis; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, type 2; inflammation; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, type 2; inflammation; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; kidney failure, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; pancreatitis, alcoholic; pancreatitis, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; pancreatitis, alcoholic; pancreatitis, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carotid artery diseases; diabetes mellitus type ii; diabetes mellitus, type 2; disease models, animal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carotid artery diseases; diabetes mellitus type ii; diabetes mellitus, type 2; disease models, animal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, type 2; psoriasis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, type 2; psoriasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; dementia; diabetes mellitus type ii; diabetes mellitus, type 2; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; dementia; diabetes mellitus type ii; diabetes mellitus, type 2; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; vitamin d deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; vitamin d deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; obesity; overweight Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; obesity; overweight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diabetic retinopathy; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic retinopathy; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, type 2; inflammation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, type 2; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; lipid metabolism, inborn errors Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; lipid metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cataract; diabetes mellitus type ii; diabetes mellitus, type 2; myopia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cataract; diabetes mellitus type ii; diabetes mellitus, type 2; myopia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; hyperlipidemias Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hyperlipidemias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes complications; diabetes mellitus type ii; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes complications; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; dyslipidemias Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; dyslipidemias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; hyperglycemia; insulin resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; hyperglycemia; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diabetes, gestational; gestational diabetes mellitus (disorder) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetes, gestational; gestational diabetes mellitus (disorder) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; inflammation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2; hypertension; diabetes, type 1; albuminuria Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2; hypertension; diabetes, type 1; albuminuria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; hypercholesterolemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; hypercholesterolemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diabetes, gestational; gestational diabetes mellitus ; iron overload Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetes, gestational; gestational diabetes mellitus ; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
albuminuria; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease albuminuria; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blindness; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blindness; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; intermittent claudication Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; intermittent claudication in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diabetic neuropathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic neuropathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary artery disease; diabetes mellitus type ii; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary artery disease; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diseases in twins Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diseases in twins in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; death, sudden; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; death, sudden; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic kidney insufficiency; diabetes mellitus type ii; diabetes mellitus, type 2; renal insufficiency, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic kidney insufficiency; diabetes mellitus type ii; diabetes mellitus, type 2; renal insufficiency, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; diabetic retinopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; diabetic retinopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; diabetic nephropathies; diabetic nephropathy; diabetic neuropathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; diabetic nephropathies; diabetic nephropathy; diabetic neuropathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic angiopathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic angiopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
type 1 and type 2 muscle fiber minicore regions Gene SetFrom HPO Gene-Disease Associations genes associated with the type 1 and type 2 muscle fiber minicore regions phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
type 1 fibers relatively smaller than type 2 fibers Gene SetFrom HPO Gene-Disease Associations genes associated with the type 1 fibers relatively smaller than type 2 fibers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
P-type ATPase, subfamily IIA, PMR1-type Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the P-type ATPase, subfamily IIA, PMR1-type protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
P-type ATPase, subfamily IIA, SERCA-type Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the P-type ATPase, subfamily IIA, SERCA-type protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Protein-tyrosine phosphatase, receptor type R/non-receptor type 5 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein-tyrosine phosphatase, receptor type R/non-receptor type 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ephrin receptor type-A /type-B Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ephrin receptor type-A /type-B protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
K/Cl co-transporter, type 1/type 3 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the K/Cl co-transporter, type 1/type 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
ocular albinism, type i, nettleship-falls type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ocular albinism, type i, nettleship-falls type phenotype from the curated OMIM Gene-Disease Associations dataset. |
Lymphomatoid Papulosis Type A (Cd-30 Positive Type) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lymphomatoid Papulosis Type A (Cd-30 Positive Type) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adult Type Polycystic Kidney Disease Type 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adult Type Polycystic Kidney Disease Type 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Peroneal Muscular Atrophy (Axonal Type) (Hypertrophic Type) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Peroneal Muscular Atrophy (Axonal Type) (Hypertrophic Type) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Type 1 Fibers Relatively Smaller Than Type 2 Fibers Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Type 1 Fibers Relatively Smaller Than Type 2 Fibers in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Type B intercalated cell (Type B IC)_Epithelium_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Type B intercalated cell (Type B IC)_Epithelium_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Descending thin limb type 1 cell (DTL type 1 cell)_Epithelium_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Descending thin limb type 1 cell (DTL type 1 cell)_Epithelium_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Type A intercalated cell (Type A IC)_Epithelium_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Type A intercalated cell (Type A IC)_Epithelium_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Autosomal recessive cutis laxa type II classic type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive cutis laxa type II classic type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Yu-Zhi constitution type in type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Yu-Zhi constitution type in type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Bartter syndrome, type 3, with hypocalciuria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 3, with hypocalciuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short rib-polydactyly syndrome, Majewski type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short rib-polydactyly syndrome, Majewski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bare Lymphocyte Syndrome, Type II, Complementation Group D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bare Lymphocyte Syndrome, Type II, Complementation Group D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 4B, MNGIE type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 4B, MNGIE type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Duane syndrome type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Duane syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bernard-Soulier syndrome, type A2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bernard-Soulier syndrome, type A2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Waardenburg syndrome type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome antenatal type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome antenatal type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome antenatal type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome antenatal type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome, type 4b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 4b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Waardenburg syndrome type 4B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune lymphoproliferative syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune lymphoproliferative syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1G Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome progeroid type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome progeroid type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Larsen syndrome, dominant type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Larsen syndrome, dominant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, musculocontractural type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, musculocontractural type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Popliteal pterygium syndrome lethal type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Popliteal pterygium syndrome lethal type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple pterygium syndrome Escobar type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple pterygium syndrome Escobar type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Schwartz Jampel syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Schwartz Jampel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acrocallosal syndrome, Schinzel type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acrocallosal syndrome, Schinzel type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome, type 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome, type 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, type 7B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 7B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, musculocontractural type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, musculocontractural type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carbohydrate-deficient glycoprotein syndrome type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carbohydrate-deficient glycoprotein syndrome type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune polyglandular syndrome type 1, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune polyglandular syndrome type 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 5, with or without ocular abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polyglandular autoimmune syndrome, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polyglandular autoimmune syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bernard-Soulier syndrome, type A1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bernard-Soulier syndrome, type A1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Griscelli syndrome type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Griscelli syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Griscelli syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Griscelli syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cockayne syndrome type A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cockayne syndrome type A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome, French Canadian type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome, French Canadian type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oto-palato-digital syndrome, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oto-palato-digital syndrome, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cockayne syndrome, type B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cockayne syndrome, type B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Axenfeld-Rieger syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Axenfeld-Rieger syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Axenfeld-Rieger syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Axenfeld-Rieger syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucose transporter type 1 deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bare lymphocyte syndrome type 2, complementation group E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bare lymphocyte syndrome type 2, complementation group E phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bare lymphocyte syndrome type 2, complementation group A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bare lymphocyte syndrome type 2, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome, type 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome, type 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oto-palato-digital syndrome, type II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oto-palato-digital syndrome, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome, type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune lymphoproliferative syndrome, type 1a Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune lymphoproliferative syndrome, type 1a phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bernard-Soulier syndrome type C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bernard-Soulier syndrome type C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peeling skin syndrome, acral type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peeling skin syndrome, acral type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pena-Shokeir syndrome type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pena-Shokeir syndrome type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
USHER SYNDROME, TYPE IJ Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease USHER SYNDROME, TYPE IJ from the curated CTD Gene-Disease Associations dataset. |
Bartter syndrome, antenatal type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bartter syndrome, antenatal type 1 from the curated CTD Gene-Disease Associations dataset. |
Waardenburg syndrome, type 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Waardenburg syndrome, type 4 from the curated CTD Gene-Disease Associations dataset. |
Usher syndrome, type 1C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Usher syndrome, type 1C from the curated CTD Gene-Disease Associations dataset. |
Usher syndrome, type 1F Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Usher syndrome, type 1F from the curated CTD Gene-Disease Associations dataset. |
Griscelli syndrome type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Griscelli syndrome type 2 from the curated CTD Gene-Disease Associations dataset. |
Griscelli syndrome type 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Griscelli syndrome type 3 from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) from the curated CTD Gene-Disease Associations dataset. |
Griscelli syndrome type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Griscelli syndrome type 1 from the curated CTD Gene-Disease Associations dataset. |
Usher Syndrome, Type IG Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Usher Syndrome, Type IG from the curated CTD Gene-Disease Associations dataset. |
USHER SYNDROME, TYPE IIIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease USHER SYNDROME, TYPE IIIA from the curated CTD Gene-Disease Associations dataset. |
Usher syndrome, type 2A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Usher syndrome, type 2A from the curated CTD Gene-Disease Associations dataset. |
USHER SYNDROME, TYPE IID Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease USHER SYNDROME, TYPE IID from the curated CTD Gene-Disease Associations dataset. |
Waardenburg Syndrome, Type 2C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Waardenburg Syndrome, Type 2C from the curated CTD Gene-Disease Associations dataset. |
Heart-hand syndrome, Slovenian type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Heart-hand syndrome, Slovenian type from the curated CTD Gene-Disease Associations dataset. |
Blepharophimosis syndrome type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Blepharophimosis syndrome type 1 from the curated CTD Gene-Disease Associations dataset. |
AXENFELD-RIEGER SYNDROME, TYPE 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease AXENFELD-RIEGER SYNDROME, TYPE 1 from the curated CTD Gene-Disease Associations dataset. |
AXENFELD-RIEGER SYNDROME, TYPE 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease AXENFELD-RIEGER SYNDROME, TYPE 3 from the curated CTD Gene-Disease Associations dataset. |
AXENFELD-RIEGER SYNDROME, TYPE 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease AXENFELD-RIEGER SYNDROME, TYPE 2 from the curated CTD Gene-Disease Associations dataset. |
Usher Syndrome, Type IH Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Usher Syndrome, Type IH from the curated CTD Gene-Disease Associations dataset. |
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE from the curated CTD Gene-Disease Associations dataset. |
Waardenburg Syndrome, Type 4b Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Waardenburg Syndrome, Type 4b from the curated CTD Gene-Disease Associations dataset. |
Waardenburg Syndrome, Type 4c Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Waardenburg Syndrome, Type 4c from the curated CTD Gene-Disease Associations dataset. |
Bartter syndrome, type 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bartter syndrome, type 3 from the curated CTD Gene-Disease Associations dataset. |
Bare Lymphocyte Syndrome, Type I Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bare Lymphocyte Syndrome, Type I from the curated CTD Gene-Disease Associations dataset. |
Meckel syndrome type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Meckel syndrome type 2 from the curated CTD Gene-Disease Associations dataset. |
Ehlers-Danlos Syndrome, Type VIII Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ehlers-Danlos Syndrome, Type VIII from the curated CTD Gene-Disease Associations dataset. |
Simpson-Golabi-Behmel Syndrome, Type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Simpson-Golabi-Behmel Syndrome, Type 2 from the curated CTD Gene-Disease Associations dataset. |
Ehlers-Danlos syndrome type 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ehlers-Danlos syndrome type 3 from the curated CTD Gene-Disease Associations dataset. |
Ehlers-Danlos syndrome type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ehlers-Danlos syndrome type 2 from the curated CTD Gene-Disease Associations dataset. |
Ehlers-Danlos syndrome type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ehlers-Danlos syndrome type 1 from the curated CTD Gene-Disease Associations dataset. |
Ehlers-Danlos syndrome type 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ehlers-Danlos syndrome type 6 from the curated CTD Gene-Disease Associations dataset. |
Usher syndrome, type 1B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Usher syndrome, type 1B from the curated CTD Gene-Disease Associations dataset. |
Usher syndrome, type 1D Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Usher syndrome, type 1D from the curated CTD Gene-Disease Associations dataset. |
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset. |
Kenny-Caffey syndrome, Type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Kenny-Caffey syndrome, Type 1 from the curated CTD Gene-Disease Associations dataset. |
Meckel syndrome type 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Meckel syndrome type 3 from the curated CTD Gene-Disease Associations dataset. |
Meckel syndrome type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Meckel syndrome type 1 from the curated CTD Gene-Disease Associations dataset. |
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type from the curated CTD Gene-Disease Associations dataset. |
Laron syndrome type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Laron syndrome type 2 from the curated CTD Gene-Disease Associations dataset. |
Pena Shokeir syndrome, type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pena Shokeir syndrome, type 1 from the curated CTD Gene-Disease Associations dataset. |
Crigler Najjar syndrome, type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Crigler Najjar syndrome, type 2 from the curated CTD Gene-Disease Associations dataset. |
Long QT syndrome type 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Long QT syndrome type 3 from the curated CTD Gene-Disease Associations dataset. |
Alport syndrome, recessive type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alport syndrome, recessive type from the curated CTD Gene-Disease Associations dataset. |
Meckel Syndrome, Type 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Meckel Syndrome, Type 4 from the curated CTD Gene-Disease Associations dataset. |
Usher syndrome, type 1E Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Usher syndrome, type 1E from the curated CTD Gene-Disease Associations dataset. |
WAARDENBURG SYNDROME, TYPE 4A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease WAARDENBURG SYNDROME, TYPE 4A from the curated CTD Gene-Disease Associations dataset. |
Bartter Syndrome, Type 4A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bartter Syndrome, Type 4A from the curated CTD Gene-Disease Associations dataset. |
Bartter Syndrome, Type 4b Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bartter Syndrome, Type 4b from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) from the curated CTD Gene-Disease Associations dataset. |
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset. |
Hyper-IgM Immunodeficiency Syndrome, Type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyper-IgM Immunodeficiency Syndrome, Type 1 from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) from the curated CTD Gene-Disease Associations dataset. |
Bartter syndrome, antenatal , type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bartter syndrome, antenatal , type 2 from the curated CTD Gene-Disease Associations dataset. |
Meckel Syndrome, Type 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Meckel Syndrome, Type 6 from the curated CTD Gene-Disease Associations dataset. |
Meckel Syndrome, Type 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Meckel Syndrome, Type 5 from the curated CTD Gene-Disease Associations dataset. |
Waardenburg Syndrome, Type 2D Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Waardenburg Syndrome, Type 2D from the curated CTD Gene-Disease Associations dataset. |
Autoimmune polyendocrinopathy syndrome, type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Autoimmune polyendocrinopathy syndrome, type 1 from the curated CTD Gene-Disease Associations dataset. |
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) from the curated CTD Gene-Disease Associations dataset. |
Oto-palato-digital syndrome, type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Oto-palato-digital syndrome, type 2 from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) from the curated CTD Gene-Disease Associations dataset. |
Leigh syndrome , French Canadian type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leigh syndrome , French Canadian type from the curated CTD Gene-Disease Associations dataset. |
Stickler syndrome, type 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Stickler syndrome, type 3 from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) from the curated CTD Gene-Disease Associations dataset. |
Stickler syndrome, type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Stickler syndrome, type 2 from the curated CTD Gene-Disease Associations dataset. |
Klippel Feil syndrome dominant type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Klippel Feil syndrome dominant type from the curated CTD Gene-Disease Associations dataset. |
Waardenburg syndrome type 2B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Waardenburg syndrome type 2B from the curated CTD Gene-Disease Associations dataset. |
Waardenburg syndrome type 2A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Waardenburg syndrome type 2A from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) from the curated CTD Gene-Disease Associations dataset. |
Waardenburg syndrome type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Waardenburg syndrome type 2 from the curated CTD Gene-Disease Associations dataset. |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Scapuloperoneal Syndrome, Neurogenic, Kaeser Type from the curated CTD Gene-Disease Associations dataset. |
NEPHROTIC SYNDROME, TYPE 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NEPHROTIC SYNDROME, TYPE 3 from the curated CTD Gene-Disease Associations dataset. |
NEPHROTIC SYNDROME, TYPE 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NEPHROTIC SYNDROME, TYPE 4 from the curated CTD Gene-Disease Associations dataset. |
Autoimmune Lymphoproliferative Syndrome, Type IIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Autoimmune Lymphoproliferative Syndrome, Type IIA from the curated CTD Gene-Disease Associations dataset. |
Larsen syndrome, dominant type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Larsen syndrome, dominant type from the curated CTD Gene-Disease Associations dataset. |
Stickler Syndrome, Type I, Nonsyndromic Ocular Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Stickler Syndrome, Type I, Nonsyndromic Ocular from the curated CTD Gene-Disease Associations dataset. |
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) from the curated CTD Gene-Disease Associations dataset. |
Stickler syndrome, type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Stickler syndrome, type 1 from the curated CTD Gene-Disease Associations dataset. |
Oto-Palato-digital syndrome type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Oto-Palato-digital syndrome type 1 from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) from the curated CTD Gene-Disease Associations dataset. |
Orofaciodigital syndrome, Shashi type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Orofaciodigital syndrome, Shashi type from the curated CTD Gene-Disease Associations dataset. |
Peeling skin syndrome, acral type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Peeling skin syndrome, acral type from the curated CTD Gene-Disease Associations dataset. |
autoimmune polyendocrine syndrome type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease autoimmune polyendocrine syndrome type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
autoimmune polyendocrine syndrome type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease autoimmune polyendocrine syndrome type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
type i ehlers-danlos syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease type i ehlers-danlos syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
type vi ehlers-danlos syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease type vi ehlers-danlos syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
retinitis pigmentosa; leber congenital amaurosis; usher syndrome type i Gene SetFrom GAD Gene-Disease Associations genes associated with the disease retinitis pigmentosa; leber congenital amaurosis; usher syndrome type i in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; long qt syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; long qt syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; inflammation; insulin resistance; metabolic syndrome x; myocardial infarction; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; inflammation; insulin resistance; metabolic syndrome x; myocardial infarction; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; diabetic angiopathies; long qt syndrome; myocardial infarction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; diabetic angiopathies; long qt syndrome; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lupus erythematosus; rheumatoid arthritis; sjogren's syndrome; diabetes, type 1 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lupus erythematosus; rheumatoid arthritis; sjogren's syndrome; diabetes, type 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2; metabolic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2; metabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ehlers-danlos syndrome type iv Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ehlers-danlos syndrome type iv in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; fatty liver; metabolic syndrome x Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; fatty liver; metabolic syndrome x in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2; polycystic ovarian syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2; polycystic ovarian syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; obesity; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; obesity; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; metabolic syndrome x; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; metabolic syndrome x; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetic ketoacidosis; disease susceptibility; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetic ketoacidosis; disease susceptibility; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2 ; metabolic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2 ; metabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; autoimmune diseases; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; lupus erythematosus, systemic; rheumatoid arthritis; sjogren's syndrome; systemic lupus erythematosus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; autoimmune diseases; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; lupus erythematosus, systemic; rheumatoid arthritis; sjogren's syndrome; systemic lupus erythematosus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; metabolic syndrome x Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; metabolic syndrome x in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mild ehlers-danlos syndrome type iv Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mild ehlers-danlos syndrome type iv in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2; hypertension; metabolic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2; hypertension; metabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2; glucose tolerance; metabolic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2; glucose tolerance; metabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus; diabetes mellitus, type 2; insulin resistance; metabolic syndrome x Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; diabetes mellitus, type 2; insulin resistance; metabolic syndrome x in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2; polymetabolic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2; polymetabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, type 2; insulin resistance; metabolic syndrome x Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, type 2; insulin resistance; metabolic syndrome x in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Usher syndrome type-1C protein-binding protein 1, PDZ domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Usher syndrome type-1C protein-binding protein 1, PDZ domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
{retinal disease in usher syndrome type iia, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {retinal disease in usher syndrome type iia, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
scapuloperoneal syndrome, neurogenic, kaeser type Gene SetFrom OMIM Gene-Disease Associations genes associated with the scapuloperoneal syndrome, neurogenic, kaeser type phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome, progeroid type, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, progeroid type, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome, progeroid type, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, progeroid type, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoimmune lymphoproliferative syndrome, type ib Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoimmune lymphoproliferative syndrome, type ib phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoimmune lymphoproliferative syndrome, type ia Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoimmune lymphoproliferative syndrome, type ia phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoimmune lymphoproliferative syndrome, type ii Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoimmune lymphoproliferative syndrome, type ii phenotype from the curated OMIM Gene-Disease Associations dataset. |
opitz gbbb syndrome, type i Gene SetFrom OMIM Gene-Disease Associations genes associated with the opitz gbbb syndrome, type i phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome, musculocontractural type 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, musculocontractural type 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation syndrome, x-linked, siderius type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation syndrome, x-linked, siderius type phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial dna depletion syndrome 4a (alpers type) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 4a (alpers type) phenotype from the curated OMIM Gene-Disease Associations dataset. |
waardenburg syndrome, type 2e, with or without neurologic involvement Gene SetFrom OMIM Gene-Disease Associations genes associated with the waardenburg syndrome, type 2e, with or without neurologic involvement phenotype from the curated OMIM Gene-Disease Associations dataset. |
popliteal pterygium syndrome 2, lethal type Gene SetFrom OMIM Gene-Disease Associations genes associated with the popliteal pterygium syndrome 2, lethal type phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome, type i Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, type i phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial dna depletion syndrome 6 (hepatocerebral type) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 6 (hepatocerebral type) phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation syndrome, x-linked, armfield type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation syndrome, x-linked, armfield type phenotype from the curated OMIM Gene-Disease Associations dataset. |
multiple pterygium syndrome, lethal type Gene SetFrom OMIM Gene-Disease Associations genes associated with the multiple pterygium syndrome, lethal type phenotype from the curated OMIM Gene-Disease Associations dataset. |
usher syndrome, type 1f Gene SetFrom OMIM Gene-Disease Associations genes associated with the usher syndrome, type 1f phenotype from the curated OMIM Gene-Disease Associations dataset. |
usher syndrome, type 1g Gene SetFrom OMIM Gene-Disease Associations genes associated with the usher syndrome, type 1g phenotype from the curated OMIM Gene-Disease Associations dataset. |
usher syndrome, type 1d Gene SetFrom OMIM Gene-Disease Associations genes associated with the usher syndrome, type 1d phenotype from the curated OMIM Gene-Disease Associations dataset. |
crigler-najjar syndrome, type i Gene SetFrom OMIM Gene-Disease Associations genes associated with the crigler-najjar syndrome, type i phenotype from the curated OMIM Gene-Disease Associations dataset. |
stickler syndrome, type iii Gene SetFrom OMIM Gene-Disease Associations genes associated with the stickler syndrome, type iii phenotype from the curated OMIM Gene-Disease Associations dataset. |
usher syndrome, type ij Gene SetFrom OMIM Gene-Disease Associations genes associated with the usher syndrome, type ij phenotype from the curated OMIM Gene-Disease Associations dataset. |
usher syndrome, type ik Gene SetFrom OMIM Gene-Disease Associations genes associated with the usher syndrome, type ik phenotype from the curated OMIM Gene-Disease Associations dataset. |
leigh syndrome, french-canadian type Gene SetFrom OMIM Gene-Disease Associations genes associated with the leigh syndrome, french-canadian type phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome, type vi Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, type vi phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome, type viii Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, type viii phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome, type viic Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, type viic phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome, type viib Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, type viib phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome, type viia Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, type viia phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoimmune lymphoproliferative syndrome, type iii Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoimmune lymphoproliferative syndrome, type iii phenotype from the curated OMIM Gene-Disease Associations dataset. |
stickler syndrome, type i Gene SetFrom OMIM Gene-Disease Associations genes associated with the stickler syndrome, type i phenotype from the curated OMIM Gene-Disease Associations dataset. |
?ehlers-danlos syndrome, musculocontractural type 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?ehlers-danlos syndrome, musculocontractural type 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
waardenburg syndrome, type 4b Gene SetFrom OMIM Gene-Disease Associations genes associated with the waardenburg syndrome, type 4b phenotype from the curated OMIM Gene-Disease Associations dataset. |
waardenburg syndrome, type 4c Gene SetFrom OMIM Gene-Disease Associations genes associated with the waardenburg syndrome, type 4c phenotype from the curated OMIM Gene-Disease Associations dataset. |
waardenburg syndrome, type 4a Gene SetFrom OMIM Gene-Disease Associations genes associated with the waardenburg syndrome, type 4a phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome, autosomal dominant, hypermobility type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, autosomal dominant, hypermobility type phenotype from the curated OMIM Gene-Disease Associations dataset. |
thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) Gene SetFrom OMIM Gene-Disease Associations genes associated with the thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial dna depletion syndrome 12 (cardiomyopathic type) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 12 (cardiomyopathic type) phenotype from the curated OMIM Gene-Disease Associations dataset. |
usher syndrome, type 1d/f digenic Gene SetFrom OMIM Gene-Disease Associations genes associated with the usher syndrome, type 1d/f digenic phenotype from the curated OMIM Gene-Disease Associations dataset. |
griscelli syndrome, type 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the griscelli syndrome, type 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
griscelli syndrome, type 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the griscelli syndrome, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
griscelli syndrome, type 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the griscelli syndrome, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
bare lymphocyte syndrome, type i Gene SetFrom OMIM Gene-Disease Associations genes associated with the bare lymphocyte syndrome, type i phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
knobloch syndrome, type 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the knobloch syndrome, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
heart-hand syndrome, slovenian type Gene SetFrom OMIM Gene-Disease Associations genes associated with the heart-hand syndrome, slovenian type phenotype from the curated OMIM Gene-Disease Associations dataset. |
xeroderma pigmentosum, type f/cockayne syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the xeroderma pigmentosum, type f/cockayne syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephrotic syndrome, type 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephrotic syndrome, type 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
waardenburg syndrome, type 2a Gene SetFrom OMIM Gene-Disease Associations genes associated with the waardenburg syndrome, type 2a phenotype from the curated OMIM Gene-Disease Associations dataset. |
waardenburg syndrome, type 2b Gene SetFrom OMIM Gene-Disease Associations genes associated with the waardenburg syndrome, type 2b phenotype from the curated OMIM Gene-Disease Associations dataset. |
waardenburg syndrome, type 2c Gene SetFrom OMIM Gene-Disease Associations genes associated with the waardenburg syndrome, type 2c phenotype from the curated OMIM Gene-Disease Associations dataset. |
waardenburg syndrome, type 2d Gene SetFrom OMIM Gene-Disease Associations genes associated with the waardenburg syndrome, type 2d phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome, type iii Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, type iii phenotype from the curated OMIM Gene-Disease Associations dataset. |
bartter syndrome, type 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bartter syndrome, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
amelogenesis imperfecta, type ig (enamel-renal syndrome) Gene SetFrom OMIM Gene-Disease Associations genes associated with the amelogenesis imperfecta, type ig (enamel-renal syndrome) phenotype from the curated OMIM Gene-Disease Associations dataset. |
axenfeld-rieger syndrome, type 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the axenfeld-rieger syndrome, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
axenfeld-rieger syndrome, type 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the axenfeld-rieger syndrome, type 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
bernard-soulier syndrome, type a2 (dominant) Gene SetFrom OMIM Gene-Disease Associations genes associated with the bernard-soulier syndrome, type a2 (dominant) phenotype from the curated OMIM Gene-Disease Associations dataset. |
bare lymphocyte syndrome, type ii, complementation group c Gene SetFrom OMIM Gene-Disease Associations genes associated with the bare lymphocyte syndrome, type ii, complementation group c phenotype from the curated OMIM Gene-Disease Associations dataset. |
bare lymphocyte syndrome, type ii, complementation group a Gene SetFrom OMIM Gene-Disease Associations genes associated with the bare lymphocyte syndrome, type ii, complementation group a phenotype from the curated OMIM Gene-Disease Associations dataset. |
bare lymphocyte syndrome, type ii, complementation group d Gene SetFrom OMIM Gene-Disease Associations genes associated with the bare lymphocyte syndrome, type ii, complementation group d phenotype from the curated OMIM Gene-Disease Associations dataset. |
simpson-golabi-behmel syndrome, type 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the simpson-golabi-behmel syndrome, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
simpson-golabi-behmel syndrome, type 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the simpson-golabi-behmel syndrome, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome, type ii Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, type ii phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome, type iv Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, type iv phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial dna depletion syndrome 2 (myopathic type) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 2 (myopathic type) phenotype from the curated OMIM Gene-Disease Associations dataset. |
usher syndrome, type 3a Gene SetFrom OMIM Gene-Disease Associations genes associated with the usher syndrome, type 3a phenotype from the curated OMIM Gene-Disease Associations dataset. |
usher syndrome, type 1b Gene SetFrom OMIM Gene-Disease Associations genes associated with the usher syndrome, type 1b phenotype from the curated OMIM Gene-Disease Associations dataset. |
usher syndrome, type 1c Gene SetFrom OMIM Gene-Disease Associations genes associated with the usher syndrome, type 1c phenotype from the curated OMIM Gene-Disease Associations dataset. |
usher syndrome, type 1e Gene SetFrom OMIM Gene-Disease Associations genes associated with the usher syndrome, type 1e phenotype from the curated OMIM Gene-Disease Associations dataset. |
usher syndrome, type 1h Gene SetFrom OMIM Gene-Disease Associations genes associated with the usher syndrome, type 1h phenotype from the curated OMIM Gene-Disease Associations dataset. |
meckel syndrome, type 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the meckel syndrome, type 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
stickler syndrome, type iv Gene SetFrom OMIM Gene-Disease Associations genes associated with the stickler syndrome, type iv phenotype from the curated OMIM Gene-Disease Associations dataset. |
bare lymphocyte syndrome, type i, due to tap2 deficiency Gene SetFrom 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. |
?stickler syndrome, type v Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?stickler syndrome, type v phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial dna depletion syndrome 4b (mngie type) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 4b (mngie type) phenotype from the curated OMIM Gene-Disease Associations dataset. |
bernard-soulier syndrome, type a1 (recessive) Gene SetFrom OMIM Gene-Disease Associations genes associated with the bernard-soulier syndrome, type a1 (recessive) phenotype from the curated OMIM Gene-Disease Associations dataset. |
?autoimmune lymphoproliferative syndrome, type iib Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?autoimmune lymphoproliferative syndrome, type iib phenotype from the curated OMIM Gene-Disease Associations dataset. |
bernard-soulier syndrome, type c Gene SetFrom OMIM Gene-Disease Associations genes associated with the bernard-soulier syndrome, type c phenotype from the curated OMIM Gene-Disease Associations dataset. |
bernard-soulier syndrome, type b Gene SetFrom OMIM Gene-Disease Associations genes associated with the bernard-soulier syndrome, type b phenotype from the curated OMIM Gene-Disease Associations dataset. |
loeys-dietz syndrome, type 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the loeys-dietz syndrome, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
loeys-dietz syndrome, type 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the loeys-dietz syndrome, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
loeys-dietz syndrome, type 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the loeys-dietz syndrome, type 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
bartter syndrome, type 4a Gene SetFrom OMIM Gene-Disease Associations genes associated with the bartter syndrome, type 4a phenotype from the curated OMIM Gene-Disease Associations dataset. |
persistent mullerian duct syndrome, type i Gene SetFrom OMIM Gene-Disease Associations genes associated with the persistent mullerian duct syndrome, type i phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial dna depletion syndrome 13 (encephalomyopathic type) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 13 (encephalomyopathic type) phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoimmune lymphoproliferative syndrome, type v Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoimmune lymphoproliferative syndrome, type v phenotype from the curated OMIM Gene-Disease Associations dataset. |
schwartz-jampel syndrome, type 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the schwartz-jampel syndrome, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
loeys-dietz syndrome, type 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the loeys-dietz syndrome, type 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
otopalatodigital syndrome, type i Gene SetFrom OMIM Gene-Disease Associations genes associated with the otopalatodigital syndrome, type i phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephrotic syndrome, type 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephrotic syndrome, type 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
usher syndrome, type 2c, gpr98/pdzd7 digenic Gene SetFrom OMIM Gene-Disease Associations genes associated with the usher syndrome, type 2c, gpr98/pdzd7 digenic phenotype from the curated OMIM Gene-Disease Associations dataset. |
scapuloperoneal syndrome, myopathic type Gene SetFrom OMIM Gene-Disease Associations genes associated with the scapuloperoneal syndrome, myopathic type phenotype from the curated OMIM Gene-Disease Associations dataset. |
opitz gbbb syndrome, type ii Gene SetFrom OMIM Gene-Disease Associations genes associated with the opitz gbbb syndrome, type ii phenotype from the curated OMIM Gene-Disease Associations dataset. |
waardenburg syndrome, type 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the waardenburg syndrome, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
waardenburg syndrome, type 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the waardenburg syndrome, type 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
persistent mullerian duct syndrome, type ii Gene SetFrom OMIM Gene-Disease Associations genes associated with the persistent mullerian duct syndrome, type ii phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoimmune lymphoproliferative syndrome type iv Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoimmune lymphoproliferative syndrome type iv phenotype from the curated OMIM Gene-Disease Associations dataset. |
stickler syndrome, type ii Gene SetFrom OMIM Gene-Disease Associations genes associated with the stickler syndrome, type ii phenotype from the curated OMIM Gene-Disease Associations dataset. |
usher syndrome type 3b Gene SetFrom OMIM Gene-Disease Associations genes associated with the usher syndrome type 3b phenotype from the curated OMIM Gene-Disease Associations dataset. |
otopalatodigital syndrome, type ii Gene SetFrom OMIM Gene-Disease Associations genes associated with the otopalatodigital syndrome, type ii phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial dna depletion syndrome 1 (mngie type) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 1 (mngie type) phenotype from the curated OMIM Gene-Disease Associations dataset. |
alpha-thalassemia/mental retardation syndrome, type 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the alpha-thalassemia/mental retardation syndrome, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) Gene SetFrom OMIM Gene-Disease Associations genes associated with the thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephrotic syndrome, type 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephrotic syndrome, type 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephrotic syndrome, type 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephrotic syndrome, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephrotic syndrome, type 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephrotic syndrome, type 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephrotic syndrome, type 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephrotic syndrome, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephrotic syndrome, type 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephrotic syndrome, type 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephrotic syndrome, type 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephrotic syndrome, type 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephrotic syndrome, type 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephrotic syndrome, type 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
bartter syndrome, type 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bartter syndrome, type 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
bartter syndrome, type 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bartter syndrome, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
bartter syndrome, type 4b, digenic Gene SetFrom OMIM Gene-Disease Associations genes associated with the bartter syndrome, type 4b, digenic phenotype from the curated OMIM Gene-Disease Associations dataset. |
kenny-caffey syndrome, type 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the kenny-caffey syndrome, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial dna depletion syndrome 3 (hepatocerebral type) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 3 (hepatocerebral type) phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial dna depletion syndrome 7 (hepatocerebral type) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 7 (hepatocerebral type) phenotype from the curated OMIM Gene-Disease Associations dataset. |
cockayne syndrome, type b Gene SetFrom OMIM Gene-Disease Associations genes associated with the cockayne syndrome, type b phenotype from the curated OMIM Gene-Disease Associations dataset. |
cockayne syndrome, type a Gene SetFrom OMIM Gene-Disease Associations genes associated with the cockayne syndrome, type a phenotype from the curated OMIM Gene-Disease Associations dataset. |
rieger syndrome, type 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the rieger syndrome, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
usher syndrome, type 2a Gene SetFrom OMIM Gene-Disease Associations genes associated with the usher syndrome, type 2a phenotype from the curated OMIM Gene-Disease Associations dataset. |
thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) Gene SetFrom OMIM Gene-Disease Associations genes associated with the thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) phenotype from the curated OMIM Gene-Disease Associations dataset. |
bare lymphocyte syndrome, type ii, complementation group e Gene SetFrom OMIM Gene-Disease Associations genes associated with the bare lymphocyte syndrome, type ii, complementation group e phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial dna depletion syndrome 8b (mngie type) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 8b (mngie type) phenotype from the curated OMIM Gene-Disease Associations dataset. |
usher syndrome, type iic, gpr98/pdzd7 digenic Gene SetFrom OMIM Gene-Disease Associations genes associated with the usher syndrome, type iic, gpr98/pdzd7 digenic phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephrotic syndrome, type 5, with or without ocular abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy) phenotype from the curated OMIM Gene-Disease Associations dataset. |
usher syndrome, type 2c Gene SetFrom OMIM Gene-Disease Associations genes associated with the usher syndrome, type 2c phenotype from the curated OMIM Gene-Disease Associations dataset. |
usher syndrome, type 2d Gene SetFrom OMIM Gene-Disease Associations genes associated with the usher syndrome, type 2d phenotype from the curated OMIM Gene-Disease Associations dataset. |
crigler-najjar syndrome, type ii Gene SetFrom OMIM Gene-Disease Associations genes associated with the crigler-najjar syndrome, type ii phenotype from the curated OMIM Gene-Disease Associations dataset. |
Waardenburg syndrome type 2 Gene SetFrom PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease Waardenburg syndrome type 2 from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset. |
Polyglandular Type I Autoimmune Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyglandular Type I Autoimmune Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyglandular Deficiency Syndrome, Persian-Jewish Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyglandular Deficiency Syndrome, Persian-Jewish Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyglandular Type Iii Autoimmune Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyglandular Type Iii Autoimmune Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Persistent Mullerian Duct Syndrome, Type Ii Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Persistent Mullerian Duct Syndrome, Type Ii in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Axenfeld-Rieger Syndrome, Type 3 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Axenfeld-Rieger Syndrome, Type 3 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Stickler Syndrome, Type 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Stickler Syndrome, Type 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Peeling Skin Syndrome, Acral Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Peeling Skin Syndrome, Acral Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multiple Pterygium Syndrome, Lethal Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multiple Pterygium Syndrome, Lethal Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Stickler Syndrome, Type 3 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Stickler Syndrome, Type 3 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Stickler Syndrome, Type I, Nonsyndromic Ocular Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Stickler Syndrome, Type I, Nonsyndromic Ocular in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Axenfeld-Rieger Syndrome, Type 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Axenfeld-Rieger Syndrome, Type 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alport Syndrome, Dominant Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alport Syndrome, Dominant Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alport Syndrome, Recessive Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alport Syndrome, Recessive Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sertoli Cell-Only Syndrome, Type 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sertoli Cell-Only Syndrome, Type 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Scapuloperoneal Syndrome, Neurogenic, Kaeser Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Carbohydrate Deficient Glycoprotein Syndrome Type 1O Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Carbohydrate Deficient Glycoprotein Syndrome Type 1O in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Oto-Palato-Digital Syndrome Type 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Oto-Palato-Digital Syndrome Type 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acrocallosal Syndrome, Schinzel Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acrocallosal Syndrome, Schinzel Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Heart-Hand Syndrome, Slovenian Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Heart-Hand Syndrome, Slovenian Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Klippel Feil Syndrome Recessive Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Klippel Feil Syndrome Recessive Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autoimmune Lymphoproliferative Syndrome, Type Iii Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Lymphoproliferative Syndrome, Type Iii in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Carbohydrate Deficient Glycoprotein Syndrome Type 2K Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Carbohydrate Deficient Glycoprotein Syndrome Type 2K in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progeroid Syndrome, Congenital, Petty Type Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progeroid Syndrome, Congenital, Petty Type in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Simpson-Golabi-Behmel syndrome type 1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Simpson-Golabi-Behmel syndrome type 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Autoimmune polyendocrine syndrome type 1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autoimmune polyendocrine syndrome type 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Otopalatodigital syndrome type 2 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Otopalatodigital syndrome type 2 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Otopalatodigital syndrome type 1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Otopalatodigital syndrome type 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Griscelli syndrome type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Griscelli syndrome type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mayer-Rokitansky-Kuster-Hauser syndrome type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mayer-Rokitansky-Kuster-Hauser syndrome type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Usher syndrome type 2A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Usher syndrome type 2A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Usher syndrome type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Usher syndrome type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ehlers-Danlos syndrome musculocontractural type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ehlers-Danlos syndrome musculocontractural type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ehlers-Danlos syndrome musculocontractural type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ehlers-Danlos syndrome musculocontractural type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ehlers-Danlos syndrome spondylodysplastic type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ehlers-Danlos syndrome spondylodysplastic type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mayer-Rokitansky-Kuster-Hauser syndrome type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mayer-Rokitansky-Kuster-Hauser syndrome type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Simpson-Golabi-Behmel syndrome type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Simpson-Golabi-Behmel syndrome type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Usher syndrome type 3B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Usher syndrome type 3B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Usher syndrome type 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Usher syndrome type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Usher syndrome type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Usher syndrome type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Usher syndrome type 1C Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Usher syndrome type 1C in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Usher syndrome type 1G Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Usher syndrome type 1G in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Usher syndrome type 1D Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Usher syndrome type 1D in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Usher syndrome type 2D Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Usher syndrome type 2D in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Usher syndrome type 1E Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Usher syndrome type 1E in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Usher syndrome type 1F Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Usher syndrome type 1F in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Usher syndrome type 3A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Usher syndrome type 3A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Usher syndrome type 1J Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Usher syndrome type 1J in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Usher syndrome type 2C Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Usher syndrome type 2C in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autoimmune polyendocrine syndrome type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autoimmune polyendocrine syndrome type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Waardenburg syndrome type 2A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Waardenburg syndrome type 2A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Waardenburg syndrome type 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Waardenburg syndrome type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Waardenburg syndrome type 4C Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Waardenburg syndrome type 4C in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autoimmune lymphoproliferative syndrome type 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autoimmune lymphoproliferative syndrome type 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nephrotic syndrome type 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nephrotic syndrome type 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Alpha thalassemia-intellectual disability syndrome type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Alpha thalassemia-intellectual disability syndrome type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autoimmune lymphoproliferative syndrome type 2B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autoimmune lymphoproliferative syndrome type 2B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autoimmune polyendocrine syndrome type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autoimmune polyendocrine syndrome type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ehlers-Danlos syndrome spondylodysplastic type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ehlers-Danlos syndrome spondylodysplastic type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Larsen-like syndrome B3GAT3 type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Larsen-like syndrome B3GAT3 type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Waardenburg syndrome type 2E Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Waardenburg syndrome type 2E in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Waardenburg syndrome type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Waardenburg syndrome type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Waardenburg syndrome type 4A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Waardenburg syndrome type 4A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Waardenburg syndrome type 4B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Waardenburg syndrome type 4B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Kenny-Caffey syndrome type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Kenny-Caffey syndrome type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Axenfeld-Rieger syndrome type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Axenfeld-Rieger syndrome type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ehlers-Danlos syndrome hypermobility type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ehlers-Danlos syndrome hypermobility type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Axenfeld-Rieger syndrome type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Axenfeld-Rieger syndrome type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Axenfeld-Rieger syndrome type 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Axenfeld-Rieger syndrome type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Otopalatodigital syndrome type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Otopalatodigital syndrome type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Vascular type Ehlers-Danlos syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Vascular type Ehlers-Danlos syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
deafness-intellectual disability, Martin-Probst type syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease deafness-intellectual disability, Martin-Probst type syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nephrotic syndrome type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nephrotic syndrome type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Simpson-Golabi-Behmel syndrome type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Simpson-Golabi-Behmel syndrome type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nephrotic syndrome type 21 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nephrotic syndrome type 21 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nephrotic syndrome type 22 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nephrotic syndrome type 22 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Griscelli syndrome type 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Griscelli syndrome type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ehlers-Danlos syndrome spondylodysplastic type 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ehlers-Danlos syndrome spondylodysplastic type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nephrotic syndrome type 19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nephrotic syndrome type 19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Otopalatodigital syndrome type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Otopalatodigital syndrome type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nephrotic syndrome type 14 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nephrotic syndrome type 14 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ehlers-Danlos syndrome kyphoscoliotic type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ehlers-Danlos syndrome kyphoscoliotic type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ehlers-Danlos syndrome kyphoscoliotic type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ehlers-Danlos syndrome kyphoscoliotic type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ehlers-Danlos syndrome classic type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ehlers-Danlos syndrome classic type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nephrotic syndrome type 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nephrotic syndrome type 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nephrotic syndrome type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nephrotic syndrome type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nephrotic syndrome type 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nephrotic syndrome type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Griscelli syndrome type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Griscelli syndrome type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Kenny-Caffey syndrome type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Kenny-Caffey syndrome type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Waardenburg syndrome type 2C Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Waardenburg syndrome type 2C in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Bernard-Soulier syndrome type A2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Bernard-Soulier syndrome type A2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nephrotic syndrome type 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nephrotic syndrome type 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nephrotic syndrome type 20 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nephrotic syndrome type 20 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Waardenburg syndrome type 2B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Waardenburg syndrome type 2B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ehlers-Danlos syndrome arthrochalasia type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ehlers-Danlos syndrome arthrochalasia type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autoimmune lymphoproliferative syndrome type 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autoimmune lymphoproliferative syndrome type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nephrotic syndrome type 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nephrotic syndrome type 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ehlers-Danlos syndrome dermatosparaxis type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ehlers-Danlos syndrome dermatosparaxis type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neurogenic scapuloperoneal syndrome Kaeser type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurogenic scapuloperoneal syndrome Kaeser type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nephrotic syndrome type 10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nephrotic syndrome type 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nephrotic syndrome type 23 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nephrotic syndrome type 23 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autoimmune lymphoproliferative syndrome type 2A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autoimmune lymphoproliferative syndrome type 2A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Lynch syndrome:Turcot syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene SetFrom 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. |
acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
digeorge syndrome/velocardiofacial syndrome complex-2 Gene SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Crouzon syndrome-acanthosis nigricans syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Crouzon syndrome-acanthosis nigricans syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Crouzon syndrome-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked cerebral-cerebellar-coloboma syndrome syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked cerebral-cerebellar-coloboma syndrome syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
regulation of ck1/cdk5 by type 1 glutamate receptors Gene SetFrom Biocarta Pathways proteins participating in the regulation of ck1/cdk5 by type 1 glutamate receptors pathway from the Biocarta Pathways dataset. |
Pachyonychia congenita, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pachyonychia congenita, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pseudohypoparathyroidism type 1C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pseudohypoparathyroidism type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Achondrogenesis type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Achondrogenesis type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
METHYLMALONIC ACIDURIA, mut(-) TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHYLMALONIC ACIDURIA, mut(-) TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pseudohypoaldosteronism, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pseudohypoaldosteronism, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ISOVALERIC ACIDEMIA, TYPE I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ISOVALERIC ACIDEMIA, TYPE I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Maple syrup urine disease type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Maple syrup urine disease type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gaucher's disease, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gaucher's disease, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, type 4H Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, type 4H phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, type 4J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, type 4J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, type 4A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, type 4A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, type 4C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, type 4C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, type 4D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, type 4D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, type 4G Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, type 4G phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Czech dysplasia metatarsal type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Czech dysplasia metatarsal type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vitamin d hydroxylation-deficient rickets, type 1b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vitamin d hydroxylation-deficient rickets, type 1b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperammonemia, type III Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperammonemia, type III phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PROPERDIN DEFICIENCY, TYPE II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PROPERDIN DEFICIENCY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Telangiectasia, hereditary hemorrhagic, type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Telangiectasia, hereditary hemorrhagic, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MACULAR CORNEAL DYSTROPHY, TYPE II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MACULAR CORNEAL DYSTROPHY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive cutis laxa type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive cutis laxa type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation, syndromic, Claes-Jensen type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation, syndromic, Claes-Jensen type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sialidosis type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sialidosis type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Maple syrup urine disease, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Maple syrup urine disease, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 8 deficiency type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 8 deficiency type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy-dystroglycanopathy, type C14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
AMELOGENESIS IMPERFECTA, TYPE IH Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the AMELOGENESIS IMPERFECTA, TYPE IH phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
BLOOD GROUP--WALDNER TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the BLOOD GROUP--WALDNER TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hemiplegic migraine type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hemiplegic migraine type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hemiplegic migraine type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hemiplegic migraine type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hemiplegic migraine type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hemiplegic migraine type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, type IVF Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, type IVF phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amelogenesis imperfecta, hypocalcification type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amelogenesis imperfecta, hypocalcification type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital generalized lipodystrophy type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital generalized lipodystrophy type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycogen storage disease type IXa1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycogen storage disease type IXa1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteogenesis imperfecta type 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteogenesis imperfecta type 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteogenesis imperfecta type 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteogenesis imperfecta type 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteogenesis imperfecta type 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteogenesis imperfecta type 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteogenesis imperfecta type 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteogenesis imperfecta type 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked, syndromic, turner type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked, syndromic, turner type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pontocerebellar hypoplasia type 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pontocerebellar hypoplasia type 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, type 4B3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, type 4B3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, type 4B1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, type 4B1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epiphyseal chondrodysplasia, miura type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epiphyseal chondrodysplasia, miura type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Metaphyseal chondrodysplasia, Jansen type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Metaphyseal chondrodysplasia, Jansen type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lipodystrophy, congenital generalized, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lipodystrophy, congenital generalized, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Beta-thalassemia, dominant inclusion body type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Beta-thalassemia, dominant inclusion body type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondylometaphyseal dysplasia, Kozlowski type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondylometaphyseal dysplasia, Kozlowski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy hereditary sensory and autonomic type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy hereditary sensory and autonomic type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary hemorrhagic telangiectasia type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary hemorrhagic telangiectasia type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Metachromatic leukodystrophy, adult type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Metachromatic leukodystrophy, adult type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Porokeratosis 8, disseminated superficial actinic type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Porokeratosis 8, disseminated superficial actinic type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chondrodysplasia with joint dislocations, GPAPP type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chondrodysplasia with joint dislocations, GPAPP type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, type 2A2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, type 2A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corticosterone methyloxidase type 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corticosterone methyloxidase type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atelosteogenesis type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atelosteogenesis type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atelosteogenesis type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atelosteogenesis type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atelosteogenesis type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atelosteogenesis type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHYLCOBALAMIN DEFICIENCY, cblG TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysis bullosa simplex, Koebner type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa simplex, Koebner type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methylmalonic aciduria cblA type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methylmalonic aciduria cblA type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Xeroderma pigmentosum, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Xeroderma pigmentosum, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brachydactyly type A1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brachydactyly type A1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Citrullinemia type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Citrullinemia type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primary hyperoxaluria, type II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primary hyperoxaluria, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vitamin D-dependent rickets, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vitamin D-dependent rickets, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Plasminogen deficiency, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Plasminogen deficiency, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepimetaphyseal dysplasia, Missouri type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepimetaphyseal dysplasia, Missouri type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Isolated growth hormone deficiency type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isolated growth hormone deficiency type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis type 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis type 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis type 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis type 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis type 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis type 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycogen storage disease type II, infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycogen storage disease type II, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, type 2A1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, type 2A1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, type IF Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, type IF phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, type IE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, type IE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, type ID Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, type ID phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, type IC Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, type IC phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, type IB Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, type IB phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, type IA Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, type IA phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2S Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2S phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2L Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2L phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2E phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Schindler disease, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Schindler disease, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Schindler disease, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Schindler disease, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple endocrine neoplasia, type 2b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple endocrine neoplasia, type 2b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sandhoff disease, juvenile type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sandhoff disease, juvenile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis type 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis type 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial visceral amyloidosis, Ostertag type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial visceral amyloidosis, Ostertag type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
METHYLMALONIC ACIDURIA, mut(0) TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHYLMALONIC ACIDURIA, mut(0) TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe autosomal recessive muscular dystrophy of childhood - North African type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe autosomal recessive muscular dystrophy of childhood - North African type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macular corneal dystrophy Type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macular corneal dystrophy Type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepiphyseal dysplasia, kimberley type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepiphyseal dysplasia, kimberley type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Plasminogen activator inhibitor type 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Plasminogen activator inhibitor type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pseudohypoaldosteronism type 2B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pseudohypoaldosteronism type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vitamin D-dependent rickets, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vitamin D-dependent rickets, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked, syndromic, raymond type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked, syndromic, raymond type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
46,XY sex reversal, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 46,XY sex reversal, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, axonal, type 2s Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, axonal, type 2s phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, axonal, type 2r Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, axonal, type 2r phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, axonal, type 2q Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, axonal, type 2q phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypocalciuric hypercalcemia, familial, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypocalciuric hypercalcemia, familial, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LEUKOCYTE ADHESION DEFICIENCY, TYPE III Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LEUKOCYTE ADHESION DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neurofibromatosis, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neurofibromatosis, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lattice corneal dystrophy Type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lattice corneal dystrophy Type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neurofibromatosis, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neurofibromatosis, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular cardiomyopathy, type 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular cardiomyopathy, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular cardiomyopathy, type 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular cardiomyopathy, type 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Episodic ataxia, type 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Episodic ataxia, type 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemochromatosis type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemochromatosis type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemochromatosis type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemochromatosis type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency with hyper IgM type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency with hyper IgM type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency with hyper IgM type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency with hyper IgM type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency with hyper IgM type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency with hyper IgM type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency with hyper IgM type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency with hyper IgM type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular cardiomyopathy, type 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular cardiomyopathy, type 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular cardiomyopathy, type 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular cardiomyopathy, type 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular cardiomyopathy, type 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular cardiomyopathy, type 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital dyserythropoietic anemia, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital dyserythropoietic anemia, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tyrosinemia type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tyrosinemia type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tyrosinemia type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tyrosinemia type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy, hereditary motor and sensory, Okinawa type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy, hereditary motor and sensory, Okinawa type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-Methylglutaconic aciduria type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-Methylglutaconic aciduria type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Platelet-type bleeding disorder 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet-type bleeding disorder 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Platelet-type bleeding disorder 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet-type bleeding disorder 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Platelet-type bleeding disorder 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet-type bleeding disorder 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Platelet-type bleeding disorder 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet-type bleeding disorder 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex III deficiency, nuclear type 5 Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex III deficiency, nuclear type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Laron-type isolated somatotropin defect Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Laron-type isolated somatotropin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital secretory diarrhea, chloride type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital secretory diarrhea, chloride type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brachydactyly type A2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brachydactyly type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinal muscular atrophy, type II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinal muscular atrophy, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corticosterone methyloxidase type 2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corticosterone methyloxidase type 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteogenesis imperfecta type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteogenesis imperfecta type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, X-linked recessive, type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, X-linked recessive, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Charcot-Marie-Tooth disease, X-linked recessive, type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, X-linked recessive, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY, TYPE IE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY, TYPE IE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY, TYPE ID Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY, TYPE ID phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY, TYPE IF Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY, TYPE IF phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Niemann-Pick disease, type B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Niemann-Pick disease, type B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Niemann-Pick disease, type A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Niemann-Pick disease, type A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycogen storage disease type X Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycogen storage disease type X phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Citrullinemia type II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Citrullinemia type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thanatophoric dysplasia type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thanatophoric dysplasia type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methylmalonic aciduria, cblD type, variant 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methylmalonic aciduria, cblD type, variant 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive familial heart block type 1A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive familial heart block type 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive familial heart block type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive familial heart block type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brachydactyly type B1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brachydactyly type B1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PROPERDIN DEFICIENCY, TYPE III Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PROPERDIN DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary lymphedema type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary lymphedema type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteopetrosis autosomal dominant type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis autosomal dominant type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocystinuria, cblD type, variant 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria, cblD type, variant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spherocytosis type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spherocytosis type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spherocytosis type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spherocytosis type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pontocerebellar hypoplasia, type 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pontocerebellar hypoplasia, type 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-Methylglutaconic aciduria type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-Methylglutaconic aciduria type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal degeneration, autosomal recessive, clumped pigment type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal degeneration, autosomal recessive, clumped pigment type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Syndactyly type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Syndactyly type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MEN2 phenotype: Unknown:Multiple endocrine neoplasia, type 2a Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MEN2 phenotype: Unknown:Multiple endocrine neoplasia, type 2a phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primary hyperoxaluria, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primary hyperoxaluria, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1s Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1s phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1L Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1L phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 1E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spastic ataxia Charlevoix-Saguenay type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spastic ataxia Charlevoix-Saguenay type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Niemann-Pick disease type C2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Niemann-Pick disease type C2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Niemann-Pick disease type C1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Niemann-Pick disease type C1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rhizomelic chondrodysplasia punctata type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rhizomelic chondrodysplasia punctata type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acromesomelic dysplasia Maroteaux type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acromesomelic dysplasia Maroteaux type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brachydactyly type E2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brachydactyly type E2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Eichsfeld type congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Eichsfeld type congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Syndactyly type 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Syndactyly type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distal hereditary motor neuronopathy type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distal hereditary motor neuronopathy type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distal hereditary motor neuronopathy type 2C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distal hereditary motor neuronopathy type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distal hereditary motor neuronopathy type 2B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distal hereditary motor neuronopathy type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2L Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2L phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distal myopathy Markesbery-Griggs type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distal myopathy Markesbery-Griggs type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2k Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2k phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ocular albinism, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ocular albinism, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukocyte adhesion deficiency type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukocyte adhesion deficiency type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylglutaconic aciduria type V Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria type V phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1Q Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1Q phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1P Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1P phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypokalemic periodic paralysis, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypokalemic periodic paralysis, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sandhoff disease, adult type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sandhoff disease, adult type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1H Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1H phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycogen storage disease type 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycogen storage disease type 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1N Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1N phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Optic Atrophy Type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Optic Atrophy Type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mucopolysaccharidosis type VI Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mucopolysaccharidosis type VI phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dentinogenesis imperfecta - Shield's type II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dentinogenesis imperfecta - Shield's type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Syndactyly type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Syndactyly type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MUCOPOLYSACCHARIDOSIS, TYPE VI, INTERMEDIATE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MUCOPOLYSACCHARIDOSIS, TYPE VI, INTERMEDIATE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple exostoses type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple exostoses type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycogen storage disease type 1A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycogen storage disease type 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Postaxial polydactyly type A6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Postaxial polydactyly type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1v Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1v phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distal hereditary motor neuronopathy type 5B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distal hereditary motor neuronopathy type 5B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Posterior polar cataract type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Posterior polar cataract type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
METHEMOGLOBINEMIA, TYPE I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHEMOGLOBINEMIA, TYPE I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polycystic kidney disease, adult type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polycystic kidney disease, adult type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diabetes mellitus type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diabetes mellitus type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spherocytosis type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spherocytosis type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephalic osteodysplastic primordial dwarfism type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephalic osteodysplastic primordial dwarfism type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pontocerebellar hypoplasia type 2D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pontocerebellar hypoplasia type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diabetes mellitus type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diabetes mellitus type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Xeroderma pigmentosum, variant type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Xeroderma pigmentosum, variant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methemoglobinemia type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methemoglobinemia type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Maple syrup urine disease type 1A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Maple syrup urine disease type 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycogen storage disease, type VII Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycogen storage disease, type VII phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 Gene SetFrom 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. |
Generalized epilepsy with febrile seizures plus, type 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Generalized epilepsy with febrile seizures plus, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Generalized epilepsy with febrile seizures plus, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Generalized epilepsy with febrile seizures plus, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Generalized epilepsy with febrile seizures plus, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Generalized epilepsy with febrile seizures plus, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple endocrine neoplasia, type 2a Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple endocrine neoplasia, type 2a phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteogenesis imperfecta type 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteogenesis imperfecta type 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pachyonychia congenita type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pachyonychia congenita type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Syndactyly Cenani Lenz type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Syndactyly Cenani Lenz type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amelogenesis imperfecta pigmented hypomaturation type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amelogenesis imperfecta pigmented hypomaturation type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycogen storage disease, type VI Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycogen storage disease, type VI phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemochromatosis type 2B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemochromatosis type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemochromatosis type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemochromatosis type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary angioedema type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary angioedema type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distal arthrogryposis type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distal arthrogryposis type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pseudohypoaldosteronism type 1 autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pseudohypoaldosteronism type 1 autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
HYPERLIPOPROTEINEMIA, TYPE ID Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the HYPERLIPOPROTEINEMIA, TYPE ID phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
46,XY sex reversal, type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 46,XY sex reversal, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Butyrylcholinesterase deficiency, fluoride-resistant, japanese type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Butyrylcholinesterase deficiency, fluoride-resistant, japanese type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
46,XY sex reversal, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 46,XY sex reversal, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial amyloid polyneuropathy, Iowa type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial amyloid polyneuropathy, Iowa type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Palmoplantar keratoderma, nagashima type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Palmoplantar keratoderma, nagashima type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperkalemic Periodic Paralysis Type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperkalemic Periodic Paralysis Type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteogenesis imperfecta Levin type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteogenesis imperfecta Levin type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type Ix Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type Ix phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital order of glycosylation type 1r Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital order of glycosylation type 1r phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lattice corneal dystrophy type 3A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lattice corneal dystrophy type 3A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
BRACHYDACTYLY, TYPE A1, C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the BRACHYDACTYLY, TYPE A1, C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pseudohypoaldosteronism type 2D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pseudohypoaldosteronism type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lipodystrophy, familial partial, type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lipodystrophy, familial partial, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lipodystrophy, familial partial, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lipodystrophy, familial partial, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Darier disease, acral hemorrhagic type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Darier disease, acral hemorrhagic type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypocalciuric hypercalcemia, familial, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypocalciuric hypercalcemia, familial, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypocalciuric hypercalcemia, familial, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypocalciuric hypercalcemia, familial, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distal hereditary motor neuronopathy type 7B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distal hereditary motor neuronopathy type 7B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular cardiomyopathy, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular cardiomyopathy, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular cardiomyopathy, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular cardiomyopathy, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular cardiomyopathy, type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular cardiomyopathy, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |