Name

USHER SYNDROME, TYPE IIIA Gene Set

From 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 1C Gene Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 2C Gene Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 2A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 1B Gene Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

USHER SYNDROME, TYPE IJ Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease USHER SYNDROME, TYPE IJ from the curated CTD Gene-Disease Associations dataset.

Usher syndrome, type 1C Gene Set

From 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 Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Usher syndrome, type 1F from the curated CTD Gene-Disease Associations dataset.

Usher Syndrome, Type IG Gene Set

From 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 2A Gene Set

From 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 Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease USHER SYNDROME, TYPE IID from the curated CTD Gene-Disease Associations dataset.

Usher Syndrome, Type IH Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Usher Syndrome, Type IH from the curated CTD Gene-Disease Associations dataset.

Usher syndrome, type 1B Gene Set

From 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 Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Usher syndrome, type 1D from the curated CTD Gene-Disease Associations dataset.

Usher syndrome, type 1E Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Usher syndrome, type 1E from the curated CTD Gene-Disease Associations dataset.

retinitis pigmentosa; leber congenital amaurosis; usher syndrome type i Gene Set

From 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.

Usher syndrome type-1C protein-binding protein 1, PDZ domain Gene Set

From 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 Set

From 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.

usher syndrome, type 1f Gene Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type 1d phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type ij Gene Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type ik phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type 1d/f digenic Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type 1d/f digenic phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type 3a Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type 1h phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type 2c, gpr98/pdzd7 digenic Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type 2c, gpr98/pdzd7 digenic phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome type 3b Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome type 3b phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type 2a Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type 2a phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type iic, gpr98/pdzd7 digenic Gene Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type iic, gpr98/pdzd7 digenic phenotype from the curated OMIM Gene-Disease Associations dataset.

usher syndrome, type 2c Gene Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the usher syndrome, type 2d phenotype from the curated OMIM Gene-Disease Associations dataset.

Corneal Dystrophy, Lattice Type IIIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal Dystrophy, Lattice Type IIIA from the curated CTD Gene-Disease Associations dataset.

glycogen storage disease type iiia Gene Set

From GAD Gene-Disease Associations

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

corneal dystrophy, lattice type iiia Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal dystrophy, lattice type iiia phenotype from the curated OMIM Gene-Disease Associations dataset.

mucopolysaccharidisis type iiia (sanfilippo a) Gene Set

From OMIM Gene-Disease Associations

genes associated with the mucopolysaccharidisis type iiia (sanfilippo a) phenotype from the curated OMIM Gene-Disease Associations dataset.

cutis laxa, autosomal recessive, type iiia Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutis laxa, autosomal recessive, type iiia phenotype from the curated OMIM Gene-Disease Associations dataset.

MPS IIIA - Sanfilippo syndrome A Gene Set

From Reactome Pathways

proteins participating in the MPS IIIA - Sanfilippo syndrome A pathway from the Reactome Pathways dataset.

usher syndrome Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

usher syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

retinitis pigmentosa; usher syndrome Gene Set

From GAD Gene-Disease Associations

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

usher syndrome Gene Set

From GAD Gene-Disease Associations

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

layer IIIa of caudal entorhinal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in layer IIIa of caudal entorhinal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

Glycogen storage disease IIIa Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycogen storage disease IIIa phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SKG-IIIA Gene Set

From COSMIC Cell Line Gene CNV Profiles

genes with high or low copy number in SKG-IIIA relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.

SKG-IIIA Gene Set

From COSMIC Cell Line Gene Mutation Profiles

genes mutated in the SKG-IIIA cell line from the COSMIC Cell Line Gene Mutation Profiles dataset.

SKG-IIIa Gene Set

From GDSC Cell Line Gene Expression Profiles

genes with high or low expression in SKG-IIIa relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.

iiialpharmi1rmi2 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term iiialpharmi1rmi2 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

iiia Gene Set

From GeneRIF Biological Term Annotations

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

iiialpha Gene Set

From GeneRIF Biological Term Annotations

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

iiialphaxrcc1 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term iiialphaxrcc1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ω-agatoxin IIIA Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the ω-agatoxin IIIA ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

decreased platelet glycoprotein iib-iiia Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased platelet glycoprotein iib-iiia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

HAD-superfamily hydrolase,subfamily IIIA Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the HAD-superfamily hydrolase,subfamily IIIA protein domain from the InterPro Predicted Protein Domain Annotations dataset.

glycogen storage disease iiia Gene Set

From OMIM Gene-Disease Associations

genes associated with the glycogen storage disease iiia phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

Usher Syndromes Gene Set

From CTD Gene-Disease Associations

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

usher syndromes Gene Set

From GAD Gene-Disease Associations

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

usher Gene Set

From GeneRIF Biological Term Annotations

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

Usher Syndromes Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Usher Syndromes phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

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

Lynch syndrome:Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

diabetes mellitus type ii; diabetes mellitus, type 2; hyperinsulinism Gene Set

From 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 Set

From 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 Set

From 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 Set

From GAD Gene-Disease Associations

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

diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; hypertension; kidney failure, chronic Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the ocular albinism, type i, nettleship-falls type phenotype from the curated OMIM Gene-Disease Associations dataset.

Bartter syndrome, type 3, with hypocalciuria Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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.

Mitochondrial DNA depletion syndrome 4B, MNGIE type Gene Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Duane syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bernard-Soulier syndrome, type A2, autosomal dominant Gene Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Waardenburg syndrome type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome antenatal type 2 Gene Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Waardenburg syndrome type 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoimmune lymphoproliferative syndrome, type 2 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stickler syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome progeroid type Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Axenfeld-Rieger syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Trichorhinophalangeal syndrome type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trichorhinophalangeal syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucose transporter type 1 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Ehlers-Danlos syndrome, type 1 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Loeys-Dietz syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pena-Shokeir syndrome type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome, antenatal type 1 Gene Set

From 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 Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Waardenburg syndrome, type 4 from the curated CTD Gene-Disease Associations dataset.

Griscelli syndrome type 2 Gene Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Griscelli syndrome type 1 from the curated CTD Gene-Disease Associations dataset.

Waardenburg Syndrome, Type 2C Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease AXENFELD-RIEGER SYNDROME, TYPE 2 from the curated CTD Gene-Disease Associations dataset.

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ehlers-Danlos syndrome type 6 from the curated CTD Gene-Disease Associations dataset.

Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Meckel Syndrome, Type 4 from the curated CTD Gene-Disease Associations dataset.

WAARDENBURG SYNDROME, TYPE 4A Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) from the curated CTD Gene-Disease Associations dataset.

Bartter syndrome, antenatal , type 2 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Autoimmune polyendocrinopathy syndrome, type 1 from the curated CTD Gene-Disease Associations dataset.

Trichorhinophalangeal Syndrome, Type III Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Trichorhinophalangeal Syndrome, Type III from the curated CTD Gene-Disease Associations dataset.

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease TRICHORHINOPHALANGEAL SYNDROME, TYPE I from the curated CTD Gene-Disease Associations dataset.

Orofaciodigital syndrome, Shashi type Gene Set

From 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 Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Peeling skin syndrome, acral type from the curated CTD Gene-Disease Associations dataset.

trichorhinophalangeal syndrome type ii Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease trichorhinophalangeal syndrome type ii from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

autoimmune polyendocrine syndrome type 2 Gene Set

From DISEASES Text-mining Gene-Disease Assocation 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 Set

From DISEASES Text-mining Gene-Disease Assocation 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.

trichorhinophalangeal syndrome type ii Gene Set

From DISEASES Text-mining Gene-Disease Assocation 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.

type i ehlers-danlos syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation 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 Set

From DISEASES Text-mining Gene-Disease Assocation 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.

trichorhinophalangeal syndrome type i Gene Set

From DISEASES Text-mining Gene-Disease Assocation 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.

diabetes mellitus, type 2; long qt syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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.

scapuloperoneal syndrome, neurogenic, kaeser type Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial dna depletion syndrome 6 (hepatocerebral type) Gene Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the multiple pterygium syndrome, lethal type phenotype from the curated OMIM Gene-Disease Associations dataset.

crigler-najjar syndrome, type i Gene Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the stickler syndrome, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome, french-canadian type Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial dna depletion syndrome 12 (cardiomyopathic type) phenotype from the curated OMIM Gene-Disease Associations dataset.

griscelli syndrome, type 3 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the nephrotic syndrome, type 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

trichorhinophalangeal syndrome, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the trichorhinophalangeal syndrome, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

waardenburg syndrome, type 2a Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial dna depletion syndrome 2 (myopathic type) phenotype from the curated OMIM Gene-Disease Associations dataset.

meckel syndrome, type 11 Gene Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

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

?stickler syndrome, type v Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the nephrotic syndrome, type 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

scapuloperoneal syndrome, myopathic type Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the stickler syndrome, type ii phenotype from the curated OMIM Gene-Disease Associations dataset.

otopalatodigital syndrome, type ii Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the rieger syndrome, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) Gene Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial dna depletion syndrome 8b (mngie type) phenotype from the curated OMIM Gene-Disease Associations dataset.

trichorhinophalangeal syndrome, type i Gene Set

From OMIM Gene-Disease Associations

genes associated with the trichorhinophalangeal syndrome, type i phenotype from the curated OMIM Gene-Disease Associations dataset.

nephrotic syndrome, type 5, with or without ocular abnormalities Gene Set

From 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 Set

From 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.

crigler-najjar syndrome, type ii Gene Set

From 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 Set

From PhosphoSitePlus Phosphosite-Disease Associations

proteins associated with the disease Waardenburg syndrome type 2 from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset.

Lynch syndrome:Turcot syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary cancer-predisposing syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lynch syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Marfan's syndrome:Marfan's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

IFAP syndrome with or without BRESHECK syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Lynch syndrome I:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From CTD Gene-Disease Associations

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

Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene Set

From CTD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

cornelia de lange syndrome; de lange syndrome Gene Set

From GAD Gene-Disease Associations

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

fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

restless legs syndrome; tourette syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

behcet syndrome; uveomeningoencephalitic syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

melas syndrome; merrf syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

angelman syndrome; rett syndrome; seizures Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

metabolic syndrome ; metabolic syndrome Gene Set

From GAD Gene-Disease Associations

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

obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

digeorge syndrome; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

down syndrome; ehlers-danlos syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

heart-hand syndrome, holt-oram syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

digeorge syndrome/velocardiofacial syndrome complex-2 Gene Set

From OMIM Gene-Disease Associations

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

ifap syndrome with or without bresheck syndrome Gene Set

From OMIM Gene-Disease Associations

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

regulation of ck1/cdk5 by type 1 glutamate receptors Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudohypoparathyroidism type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Achondrogenesis type 2 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

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

Limb-girdle muscular dystrophy-dystroglycanopathy, type C14 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy hereditary sensory and autonomic type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary hemorrhagic telangiectasia type 2 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atelosteogenesis type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atelosteogenesis type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Atelosteogenesis type 1 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brachydactyly type A1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Citrullinemia type I Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

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

Amyotrophic lateral sclerosis type 11 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sandhoff disease, juvenile type Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

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

Pseudohypoaldosteronism type 2B Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemochromatosis type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemochromatosis type 3 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

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

Tyrosinemia type I Gene Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy, hereditary motor and sensory, Okinawa type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-Methylglutaconic aciduria type 2 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial complex III deficiency, nuclear type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Laron-type isolated somatotropin defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Laron-type isolated somatotropin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital secretory diarrhea, chloride type Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinal muscular atrophy, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Trichorhinophalangeal dysplasia type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trichorhinophalangeal dysplasia type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosterone methyloxidase type 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Osteogenesis imperfecta type 5 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methylmalonic aciduria, cblD type, variant 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Progressive familial heart block type 1A Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brachydactyly type B1 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

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

Spherocytosis type 5 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 2k Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypokalemic periodic paralysis, type 2 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple exostoses type 2 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephalic osteodysplastic primordial dwarfism type 2 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Generalized epilepsy with febrile seizures plus, type 9 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemochromatosis type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemochromatosis type 2A Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Butyrylcholinesterase deficiency, fluoride-resistant, japanese type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

46,XY sex reversal, type 1 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lipodystrophy, familial partial, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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