Name

Methylmalonic aciduria, cblD type, variant 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

methylmalonic aciduria, cbld type, variant 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria, cbld type, variant 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

Methylmalonic Aciduria and Homocystinuria, CblD Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblD Type from the curated CTD Gene-Disease Associations dataset.

methylmalonic aciduria and homocystinuria, cbld type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria and homocystinuria, cbld type phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Gene Set

From Reactome Pathways

proteins participating in the Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway from the Reactome Pathways dataset.

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.

homocystinuria, cbld type, variant 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the homocystinuria, cbld type, variant 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

Methylmalonic acidemia with homocystinuria cblD Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methylmalonic acidemia with homocystinuria cblD phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

METHYLMALONIC 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.

Methylmalonic aciduria cblA type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methylmalonic aciduria cblA type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE Gene Set

From ClinVar Gene-Phenotype Associations

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

METHYLMALONIC ACIDURIA, 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.

Methylmalonic aciduria cblB type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methylmalonic aciduria cblB type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methylmalonic aciduria cblA type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic aciduria cblA type from the curated CTD Gene-Disease Associations dataset.

Methylmalonic Aciduria and Homocystinuria, CblF Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblF Type from the curated CTD Gene-Disease Associations dataset.

Methylmalonic aciduria cblB type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic aciduria cblB type from the curated CTD Gene-Disease Associations dataset.

MITOCHONDRIAL DNA DEPLETION SYNDROME 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.

methylmalonic aciduria and homocystinuria type cblc Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease methylmalonic aciduria and homocystinuria type cblc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Methylmalonic aciduria and homocystinuria type D protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Methylmalonic aciduria and homocystinuria type D protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) Gene Set

From OMIM Gene-Disease Associations

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

methylmalonic aciduria, mut(0) type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria, mut(0) type phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria and homocystinuria, cblf type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria and homocystinuria, cblf type phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria and homocystinuria, cblc type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria and homocystinuria, cblc type phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria and homocystinuria, cblj type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria and homocystinuria, cblj type phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Gene Set

From Reactome Pathways

proteins participating in the Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway from the Reactome Pathways dataset.

Defective MMAB causes methylmalonic aciduria type cblB Gene Set

From Reactome Pathways

proteins participating in the Defective MMAB causes methylmalonic aciduria type cblB pathway from the Reactome Pathways dataset.

Defective MMAA causes methylmalonic aciduria type cblA Gene Set

From Reactome Pathways

proteins participating in the Defective MMAA causes methylmalonic aciduria type cblA pathway from the Reactome Pathways dataset.

Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Gene Set

From Reactome Pathways

proteins participating in the Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway from the Reactome Pathways dataset.

Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Gene Set

From Reactome Pathways

proteins participating in the Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway from the Reactome Pathways dataset.

Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Gene Set

From Reactome Pathways

proteins participating in the Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway from the Reactome Pathways dataset.

Defective MUT causes methylmalonic aciduria mut type Gene Set

From Reactome Pathways

proteins participating in the Defective MUT causes methylmalonic aciduria mut type pathway from the Reactome Pathways dataset.

Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined malonic and methylmalonic aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined malonic and methylmalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set

From CTD Gene-Disease Associations

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

METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT from the curated CTD Gene-Disease Associations dataset.

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) from the curated CTD Gene-Disease Associations dataset.

methylmalonic aciduria Gene Set

From HPO Gene-Disease Associations

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

methylmalonic aciduria, vitamin b12-responsive Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria, vitamin b12-responsive phenotype from the curated OMIM Gene-Disease Associations dataset.

combined malonic and methylmalonic aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined malonic and methylmalonic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria due to transcobalamin receptor defect Gene Set

From OMIM Gene-Disease Associations

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

mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective CD320 causes methylmalonic aciduria Gene Set

From Reactome Pathways

proteins participating in the Defective CD320 causes methylmalonic aciduria pathway from the Reactome Pathways dataset.

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

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 3 (methylmalonic acidemia and homocysteinemia, cblx type ) phenotype from the curated OMIM Gene-Disease Associations dataset.

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.

Xeroderma pigmentosum, variant type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Xeroderma pigmentosum, variant type from the curated CTD Gene-Disease Associations dataset.

xeroderma pigmentosum, variant type Gene Set

From OMIM Gene-Disease Associations

genes associated with the xeroderma pigmentosum, variant type phenotype from the curated OMIM Gene-Disease 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.

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.

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.

Glutaric aciduria, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

3-Methylglutaconic Aciduria, Type V Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Methylglutaconic Aciduria, Type V from the curated CTD Gene-Disease Associations dataset.

3-Methylglutaconic Aciduria, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Methylglutaconic Aciduria, Type I from the curated CTD Gene-Disease Associations dataset.

3-methylglutaconic aciduria, type i Gene Set

From OMIM Gene-Disease Associations

genes associated with the 3-methylglutaconic aciduria, type i phenotype from the curated OMIM Gene-Disease Associations dataset.

3-methylglutaconic aciduria, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the 3-methylglutaconic aciduria, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

3-methylglutaconic aciduria, type v Gene Set

From OMIM Gene-Disease Associations

genes associated with the 3-methylglutaconic aciduria, type v phenotype from the curated OMIM Gene-Disease Associations dataset.

Methylmalonic acidemia with homocystinuria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methylmalonic acidemia with homocystinuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methylmalonic acidemia with homocystinuria Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic acidemia with homocystinuria from the curated CTD Gene-Disease Associations dataset.

Methylmalonic acidemia Gene Set

From CTD Gene-Disease Associations

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

methylmalonic acidemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

methylmalonic acidemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

homocysteine; vitamin b12; holotranscobalamin; methylmalonic acid Gene Set

From GAD Gene-Disease Associations

genes associated with the disease homocysteine; vitamin b12; holotranscobalamin; methylmalonic acid in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

methylmalonic Gene Set

From GeneRIF Biological Term Annotations

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

(S)-Methylmalonic acid semialdehyde Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the (S)-Methylmalonic acid semialdehyde metabolite from the curated HMDB Metabolites of Enzymes dataset.

Methylmalonic acid Gene Set

From HMDB Metabolites of Enzymes

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

methylmalonic acidemia Gene Set

From HPO Gene-Disease Associations

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

Immunodeficiency 18, severe combined immunodeficiency variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency 18, severe combined immunodeficiency variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Porphyria, acute intermittent, nonerythroid variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Porphyria, acute intermittent, nonerythroid variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gm2-gangliosidosis, variant b1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gm2-gangliosidosis, variant b1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epidermolysis bullosa, junctional, localisata variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysis bullosa, junctional, localisata variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rett syndrome, congenital variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rett syndrome, congenital variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tay-Sachs disease, B1 variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tay-Sachs disease, B1 variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia-telangiectasia variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia-telangiectasia variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Heterotopia, periventricular, Ehlers-Danlos variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Heterotopia, periventricular, Ehlers-Danlos variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tay-Sachs disease, variant AB Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tay-Sachs disease, variant AB phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oligosaccharyltransferase complex (Stt3A variant) Gene Set

From CORUM Protein Complexes

proteins in the Oligosaccharyltransferase complex (Stt3A variant) protein complex from the CORUM Protein Complexes dataset.

Oligosaccharyltransferase complex (Stt3B variant) Gene Set

From CORUM Protein Complexes

proteins in the Oligosaccharyltransferase complex (Stt3B variant) protein complex from the CORUM Protein Complexes dataset.

CD147-gamma-secretase complex (APH-1a, PS-1, PEN-2, NCT variant) Gene Set

From CORUM Protein Complexes

proteins in the CD147-gamma-secretase complex (APH-1a, PS-1, PEN-2, NCT variant) protein complex from the CORUM Protein Complexes dataset.

Gamma-secretase complex (APH1A, PSEN1, PSENEN, NCSTN variant) Gene Set

From CORUM Protein Complexes

proteins in the Gamma-secretase complex (APH1A, PSEN1, PSENEN, NCSTN variant) protein complex from the CORUM Protein Complexes dataset.

Tay-Sachs Disease, AB Variant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tay-Sachs Disease, AB Variant from the curated CTD Gene-Disease Associations dataset.

Prinzmetal's variant angina Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Prinzmetal's variant angina from the curated CTD Gene-Disease Associations dataset.

Vohwinkel Syndrome, Variant Form Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vohwinkel Syndrome, Variant Form from the curated CTD Gene-Disease Associations dataset.

Heterotopia, Periventricular, Ehlers-Danlos Variant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heterotopia, Periventricular, Ehlers-Danlos Variant from the curated CTD Gene-Disease Associations dataset.

Carney Complex Variant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carney Complex Variant from the curated CTD Gene-Disease Associations dataset.

RETT SYNDROME, CONGENITAL VARIANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease RETT SYNDROME, CONGENITAL VARIANT from the curated CTD Gene-Disease Associations dataset.

eosinophilic variant of chromophobe renal cell carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease eosinophilic variant of chromophobe renal cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cough variant asthma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

variant creutzfeldt-jakob disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

tall cell variant papillary carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease tall cell variant papillary carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

angina pectoris, variant Gene Set

From GAD Gene-Disease Associations

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

angina pectoris, variant; chest pain; coronary disease; coronary heart disease; myocardial infarction; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease angina pectoris, variant; chest pain; coronary disease; coronary heart disease; myocardial infarction; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cockayne syndrome or the desanctis-cacchione variant of xeroderma pigmentosum Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cockayne syndrome or the desanctis-cacchione variant of xeroderma pigmentosum in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

variant late infantile neuronal ceroid lipofuscinosis. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease variant late infantile neuronal ceroid lipofuscinosis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

strudwick variant of spondyloepimetaphyseal dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease strudwick variant of spondyloepimetaphyseal dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

variant Gene Set

From GeneRIF Biological Term Annotations

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

variant MCH Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the variant MCH ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

Creutzfeldt-Jakob disease (variant) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Creutzfeldt-Jakob disease (variant) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Angina Pectoris, Variant Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Variant SH3 domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Variant SH3 domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin E2 variant, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin E2 variant, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

lymphoma/leukemia, b-cell, variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the lymphoma/leukemia, b-cell, variant phenotype from the curated OMIM Gene-Disease Associations dataset.

rett syndrome, congenital variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the rett syndrome, congenital variant phenotype from the curated OMIM Gene-Disease Associations dataset.

maple syrup urine disease, mild variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the maple syrup urine disease, mild variant phenotype from the curated OMIM Gene-Disease Associations dataset.

diastrophic dysplasia, broad bone-platyspondylic variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the diastrophic dysplasia, broad bone-platyspondylic variant phenotype from the curated OMIM Gene-Disease Associations dataset.

gm2-gangliosidosis, ab variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the gm2-gangliosidosis, ab variant phenotype from the curated OMIM Gene-Disease Associations dataset.

{creutzfeldt-jakob disease, variant, resistance to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {creutzfeldt-jakob disease, variant, resistance to} phenotype from the curated OMIM Gene-Disease Associations dataset.

rett syndrome, preserved speech variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the rett syndrome, preserved speech variant phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant phenotype from the curated OMIM Gene-Disease Associations dataset.

porphyria, acute intermittent, nonerythroid variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the porphyria, acute intermittent, nonerythroid variant phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency 18, scid variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency 18, scid variant phenotype from the curated OMIM Gene-Disease Associations dataset.

heterotopia, periventricular, ed variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the heterotopia, periventricular, ed variant phenotype from the curated OMIM Gene-Disease Associations dataset.

ebd, localisata variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ebd, localisata variant phenotype from the curated OMIM Gene-Disease Associations dataset.

fabry disease, cardiac variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the fabry disease, cardiac variant phenotype from the curated OMIM Gene-Disease Associations dataset.

carney complex variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the carney complex variant phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From ClinVar Gene-Phenotype Associations

genes associated with the Combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Orotic aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Orotic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

L-2-hydroxyglutaric aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the L-2-hydroxyglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

D-2-hydroxyglutaric aciduria 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the D-2-hydroxyglutaric aciduria 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-Methylglutaconic aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-Methylglutaconic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

2-methyl-3-hydroxybutyric aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 2-methyl-3-hydroxybutyric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

D-2-hydroxyglutaric aciduria 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the D-2-hydroxyglutaric aciduria 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aminoadipic aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aminoadipic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mevalonic aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mevalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutaric aciduria 1 Gene Set

From CTD Gene-Disease Associations

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

Malonic aciduria Gene Set

From CTD Gene-Disease Associations

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

Fumaric aciduria Gene Set

From CTD Gene-Disease Associations

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

Argininosuccinic Aciduria Gene Set

From CTD Gene-Disease Associations

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

mevalonic aciduria Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

2-hydroxyglutaric aciduria Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease 2-hydroxyglutaric aciduria from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

argininosuccinic aciduria Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

mevalonic aciduria Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

l-2-hydroxyglutaric aciduria Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease l-2-hydroxyglutaric aciduria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

argininosuccinic aciduria Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

2-hydroxyglutaric aciduria Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease 2-hydroxyglutaric aciduria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

d-2-hydroxyglutaric aciduria Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease d-2-hydroxyglutaric aciduria in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

aciduria Gene Set

From GeneRIF Biological Term Annotations

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

organic aciduria Gene Set

From HPO Gene-Disease Associations

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

4-hydroxyphenylacetic aciduria Gene Set

From HPO Gene-Disease Associations

genes associated with the 4-hydroxyphenylacetic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

dicarboxylic aciduria Gene Set

From HPO Gene-Disease Associations

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

d-2-hydroxyglutaric aciduria Gene Set

From HPO Gene-Disease Associations

genes associated with the d-2-hydroxyglutaric aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

medium chain dicarboxylic aciduria Gene Set

From HPO Gene-Disease Associations

genes associated with the medium chain dicarboxylic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

4-hydroxyphenylpyruvic aciduria Gene Set

From HPO Gene-Disease Associations

genes associated with the 4-hydroxyphenylpyruvic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

urocanic aciduria Gene Set

From HPO Gene-Disease Associations

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

ethylmalonic aciduria Gene Set

From HPO Gene-Disease Associations

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

3-methylglutaconic aciduria Gene Set

From HPO Gene-Disease Associations

genes associated with the 3-methylglutaconic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

3-methylglutaric aciduria Gene Set

From HPO Gene-Disease Associations

genes associated with the 3-methylglutaric aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

long-chain dicarboxylic aciduria Gene Set

From HPO Gene-Disease Associations

genes associated with the long-chain dicarboxylic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aciduria Gene Set

From HPO Gene-Disease Associations

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

glutaric aciduria Gene Set

From HPO Gene-Disease Associations

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

aciduria Gene Set

From MPO Gene-Phenotype Associations

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

l-2-hydroxyglutaric aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the l-2-hydroxyglutaric aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

[glutaric aciduria iii] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [glutaric aciduria iii] phenotype from the curated OMIM Gene-Disease Associations dataset.

2-aminoadipic 2-oxoadipic aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the 2-aminoadipic 2-oxoadipic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

argininosuccinic aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the argininosuccinic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

genes associated with the combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

mevalonic aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the mevalonic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

d-2-hydroxyglutaric aciduria 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the d-2-hydroxyglutaric aciduria 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

d-glyceric aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the d-glyceric aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

alpha-methylacetoacetic aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the alpha-methylacetoacetic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

orotic aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the orotic aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

d-2-hydroxyglutaric aciduria Gene Set

From OMIM Gene-Disease Associations

genes associated with the d-2-hydroxyglutaric aciduria phenotype from the curated OMIM Gene-Disease Associations dataset.

albuminuria; chronic renal failure; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; glycosuria; kidney failure, chronic; proteinuria Gene 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.

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; 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; 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 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 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; 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; 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

TG(20:2n6/20:2n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:2n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes 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.

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, Axonal, Type 2a1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Charcot-Marie-Tooth Disease, Axonal, Type 2a1 from the curated CTD Gene-Disease Associations dataset.

Charcot-Marie-Tooth Disease, Axonal, Type 2A2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Charcot-Marie-Tooth Disease, Axonal, Type 2A2 from the curated CTD Gene-Disease Associations dataset.

Charcot-Marie-Tooth disease, Type 2B1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Charcot-Marie-Tooth disease, Type 2B1 from the curated CTD Gene-Disease Associations dataset.

Charcot-Marie-Tooth disease, Type 2B2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Charcot-Marie-Tooth disease, Type 2B2 from the curated CTD Gene-Disease Associations dataset.

2Fe-2S ferredoxin-type domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 2Fe-2S ferredoxin-type domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

2OGFeDO domain, nucleic acid-modifying type Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 2OGFeDO domain, nucleic acid-modifying type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

charcot-marie-tooth disease, type 2a1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the charcot-marie-tooth disease, type 2a1 phenotype from the curated OMIM Gene-Disease Associations dataset.

charcot-marie-tooth disease, type 2a2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the charcot-marie-tooth disease, type 2a2 phenotype from the curated OMIM Gene-Disease Associations dataset.

gaucher disease, type i, 23080 Gene Set

From OMIM Gene-Disease Associations

genes associated with the gaucher disease, type i, 23080 phenotype from the curated OMIM Gene-Disease Associations dataset.

charcot-marie-tooth disease, type 2b1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the charcot-marie-tooth disease, type 2b1 phenotype from the curated OMIM Gene-Disease Associations dataset.

charcot-marie-tooth disease, type 2b2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the charcot-marie-tooth disease, type 2b2 phenotype from the curated OMIM Gene-Disease Associations dataset.

TG(20:2n6/o-18:0/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/o-18:0/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/20:3n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:3n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/24:1(15Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/24:1(15Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:1(11Z)/20:2n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:1(11Z)/20:2n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/20:2n6/18:4(6Z,9Z,12Z,15Z)) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:2n6/18:4(6Z,9Z,12Z,15Z)) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:0/20:2n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:0/20:2n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

DG(18:2n6/0:0/22:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the DG(18:2n6/0:0/22:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(18:1(11Z)/20:2n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(18:1(11Z)/20:2n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/20:2n6/20:5(5Z,8Z,11Z,14Z,17Z)) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:2n6/20:5(5Z,8Z,11Z,14Z,17Z)) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/20:4(8Z,11Z,14Z,17Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:4(8Z,11Z,14Z,17Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(18:1(9Z)/20:2n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(18:1(9Z)/20:2n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/18:3(9Z,12Z,15Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/18:3(9Z,12Z,15Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(16:1(9Z)/20:2n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(16:1(9Z)/20:2n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/14:0/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/14:0/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(18:0/20:2n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(18:0/20:2n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/20:2n6/20:4(5Z,8Z,11Z,14Z)) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:2n6/20:4(5Z,8Z,11Z,14Z)) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/14:1(9Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/14:1(9Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/20:2n6/20:3n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:2n6/20:3n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/18:4(6Z,9Z,12Z,15Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/18:4(6Z,9Z,12Z,15Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/22:4(7Z,10Z,13Z,16Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/22:4(7Z,10Z,13Z,16Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/22:0/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/22:0/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/22:5(7Z,10Z,13Z,16Z,19Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/22:5(7Z,10Z,13Z,16Z,19Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/18:3(6Z,9Z,12Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/18:3(6Z,9Z,12Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(24:1(15Z)/20:2n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(24:1(15Z)/20:2n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/20:2n6/22:5(4Z,7Z,10Z,13Z,16Z)) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:2n6/22:5(4Z,7Z,10Z,13Z,16Z)) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(22:1(13Z)/20:2n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(22:1(13Z)/20:2n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/20:2n6/22:4(7Z,10Z,13Z,16Z)) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:2n6/22:4(7Z,10Z,13Z,16Z)) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(22:0/20:2n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(22:0/20:2n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/22:2(13Z,16Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/22:2(13Z,16Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/24:0/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/24:0/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/20:5(5Z,8Z,11Z,14Z,17Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:5(5Z,8Z,11Z,14Z,17Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/20:3(5Z,8Z,11Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:3(5Z,8Z,11Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(15:0/20:2n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(15:0/20:2n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(14:1(9Z)/20:2n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(14:1(9Z)/20:2n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

DG(20:2n6/0:0/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the DG(20:2n6/0:0/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/16:1(9Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/16:1(9Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(14:0/20:2n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(14:0/20:2n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

DG(18:2n6/0:0/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the DG(18:2n6/0:0/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/20:1(11Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:1(11Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/20:2n6/22:2(13Z,16Z)) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:2n6/22:2(13Z,16Z)) metabolite from the curated HMDB Metabolites of Enzymes dataset.

DG(18:2n6/0:0/18:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the DG(18:2n6/0:0/18:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/16:0/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/16:0/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(16:0/20:2n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(16:0/20:2n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

DG(20:2n6/0:0/22:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the DG(20:2n6/0:0/22:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/18:0/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/18:0/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/20:2n6/o-18:0) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:2n6/o-18:0) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/15:0/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/15:0/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(18:3(6Z,9Z,12Z)/20:2n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(18:3(6Z,9Z,12Z)/20:2n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/18:1(11Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/18:1(11Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/22:6(4Z,7Z,10Z,13Z,16Z,19Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/22:6(4Z,7Z,10Z,13Z,16Z,19Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(24:0/20:2n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(24:0/20:2n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/22:1(13Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/22:1(13Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/18:2(9Z,12Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/18:2(9Z,12Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/18:1(9Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/18:1(9Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/20:2n6/22:5(7Z,10Z,13Z,16Z,19Z)) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:2n6/22:5(7Z,10Z,13Z,16Z,19Z)) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/20:2n6/20:4(8Z,11Z,14Z,17Z)) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:2n6/20:4(8Z,11Z,14Z,17Z)) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(18:2(9Z,12Z)/20:2n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(18:2(9Z,12Z)/20:2n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

DG(22:2n6/0:0/22:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the DG(22:2n6/0:0/22:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/20:2n6/22:6(4Z,7Z,10Z,13Z,16Z,19Z)) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:2n6/22:6(4Z,7Z,10Z,13Z,16Z,19Z)) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/20:0/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:0/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:3(5Z,8Z,11Z)/20:2n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:3(5Z,8Z,11Z)/20:2n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/20:4(5Z,8Z,11Z,14Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:4(5Z,8Z,11Z,14Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/20:2n6/18:3(9Z,12Z,15Z)) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:2n6/18:3(9Z,12Z,15Z)) metabolite from the curated HMDB Metabolites of Enzymes dataset.

TG(20:2n6/22:5(4Z,7Z,10Z,13Z,16Z)/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/22:5(4Z,7Z,10Z,13Z,16Z)/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Darier disease, acral hemorrhagic type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Darier disease, acral hemorrhagic type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypocalciuric hypercalcemia, familial, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypocalciuric hypercalcemia, familial, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypocalciuric hypercalcemia, familial, type 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Distal hereditary motor neuronopathy type 7B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal hereditary motor neuronopathy type 7B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arrhythmogenic right ventricular cardiomyopathy, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arrhythmogenic right ventricular cardiomyopathy, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arrhythmogenic right ventricular cardiomyopathy, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arrhythmogenic right ventricular cardiomyopathy, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arrhythmogenic right ventricular cardiomyopathy, type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arrhythmogenic right ventricular cardiomyopathy, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital dyserythropoietic anemia, type II Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital dyserythropoietic anemia, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY, TYPE IC Gene Set

From ClinVar Gene-Phenotype Associations

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

Corneal endothelial dystrophy type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Oculocutaneous albinism type 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oculocutaneous albinism type 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 2B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 2A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Mental retardation, X-linked, syndromic, wu type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, X-linked, syndromic, wu type 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.

Glycogen storage disease, type II Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, X-linked, syndromic, Hedera type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, X-linked, syndromic, Hedera type 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.

Aspartylglucosaminuria, finnish type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aspartylglucosaminuria, finnish type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1K Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1K phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1J Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1O Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1O phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1E Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1D Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1G Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1y Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1y phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1u Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1u phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1t Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1t phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked syndromic mental retardation, Nascimento type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked syndromic mental retardation, Nascimento type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

OSTEOGENESIS IMPERFECTA, TYPE IIC Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the OSTEOGENESIS IMPERFECTA, TYPE IIC phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pontocerebellar hypoplasia, type 1b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pontocerebellar hypoplasia, type 1b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pontocerebellar hypoplasia type 2B Gene Set

From ClinVar Gene-Phenotype Associations

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

Dystonia 5, Dopa-responsive type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dystonia 5, Dopa-responsive type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epidermolysis bullosa simplex, Ogna type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysis bullosa simplex, Ogna type 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.

Achondrogenesis, type IA Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Achondrogenesis, type IA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Episodic ataxia type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Episodic ataxia type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary hemorrhagic telangiectasia type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spondyloepimetaphyseal dysplasia, Aggrecan type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia, Aggrecan type 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.

Gangliosidosis GM1 type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gangliosidosis GM1 type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pontocerebellar hypoplasia, type 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pontocerebellar hypoplasia, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pontocerebellar hypoplasia type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pontocerebellar hypoplasia type 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pontocerebellar hypoplasia type 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pontocerebellar hypoplasia type 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Intermediate maple syrup urine disease type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Intermediate maple syrup urine disease type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Metachromatic leukodystrophy, juvenile type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Metachromatic leukodystrophy, juvenile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal hereditary motor neuronopathy type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal hereditary motor neuronopathy type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bleeding disorder, platelet-type, 19 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bleeding disorder, platelet-type, 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bleeding disorder, platelet-type, 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bleeding disorder, platelet-type, 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brachydactyly type B2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brachydactyly type B2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital hyperammonemia, type I Gene Set

From ClinVar Gene-Phenotype Associations

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

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI Gene Set

From ClinVar Gene-Phenotype Associations

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

Familial type 3 hyperlipoproteinemia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Familial type 3 hyperlipoproteinemia 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.

Spondyloepimetaphyseal dysplasia Strudwick type Gene Set

From ClinVar Gene-Phenotype Associations

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

Polycystic kidney disease, infantile type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polycystic kidney disease, infantile type 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.

Hypercholesterolemia, autosomal dominant, type B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercholesterolemia, autosomal dominant, type B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudohypoparathyroidism type 1A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudohypoparathyroidism type 1A 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.

AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive cutis laxa type 2B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive cutis laxa type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteogenesis imperfecta type 2, thin-bone Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteogenesis imperfecta type 2, thin-bone phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepiphyseal dysplasia Maroteaux type Gene Set

From ClinVar Gene-Phenotype Associations

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

Pseudohypoaldosteronism type 1 autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Primary hyperoxaluria, type III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary hyperoxaluria, type III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive cutis laxa type IA Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive cutis laxa type IA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple endocrine neoplasia, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple endocrine neoplasia, type 1 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.

X-linked familial atypical mycobacteriosis, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked familial atypical mycobacteriosis, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carney complex, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Brachydactyly type C Gene Set

From ClinVar Gene-Phenotype Associations

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

MUCOPOLYSACCHARIDOSIS, TYPE VI, MILD Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MUCOPOLYSACCHARIDOSIS, TYPE VI, MILD 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.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal arthrogryposis type 2B Gene Set

From ClinVar Gene-Phenotype Associations

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

Familial type 5 hyperlipoproteinemia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Familial type 5 hyperlipoproteinemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arthrogryposis, distal, type 5d Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arthrogryposis, distal, type 5d phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acrocephalosyndactyly type I Gene Set

From ClinVar Gene-Phenotype Associations

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

Maturity-onset diabetes of the young, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Maturity-onset diabetes of the young, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Maturity-onset diabetes of the young, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Maturity-onset diabetes of the young, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Maturity-onset diabetes of the young, type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Maturity-onset diabetes of the young, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Maturity-onset diabetes of the young, type 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Maturity-onset diabetes of the young, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Maturity-onset diabetes of the young, type 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Maturity-onset diabetes of the young, type 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Maturity-onset diabetes of the young, type 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Maturity-onset diabetes of the young, type 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Maturity-onset diabetes of the young, type 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Maturity-onset diabetes of the young, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oculocutaneous albinism type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oculocutaneous albinism type 3 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.

Mucopolysaccharidosis type VII Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mucopolysaccharidosis type VII phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperlipoproteinemia, type I Gene Set

From ClinVar Gene-Phenotype Associations

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

Osteogenesis imperfecta type I Gene Set

From ClinVar Gene-Phenotype Associations

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

Osteogenesis imperfecta type 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteogenesis imperfecta type 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteogenesis imperfecta type 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteogenesis imperfecta type 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pontocerebellar hypoplasia, type 2e Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pontocerebellar hypoplasia, type 2e phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

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

Charcot-Marie-Tooth disease, type 2N Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease, type 2N phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Charcot-Marie-Tooth disease, type 2M Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease, type 2M 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.

Chondrodysplasia Blomstrand type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chondrodysplasia Blomstrand type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lissencephaly 2 (Norman-Roberts type) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lissencephaly 2 (Norman-Roberts type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 1C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 1A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 1F Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 1E Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sialic acid storage disease, severe infantile type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sialic acid storage disease, severe infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Charcot-Marie-Tooth disease type 2K Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease type 2K phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lattice corneal dystrophy Type III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lattice corneal dystrophy Type III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive cutis laxa type 3B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive cutis laxa type 3B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary sensory and autonomic neuropathy type IIA Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary sensory and autonomic neuropathy type IIA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia, pakistani type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia, pakistani type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cerebral amyloid angiopathy, Icelandic type Gene Set

From ClinVar Gene-Phenotype Associations

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

Glycogen storage disease type III Gene Set

From ClinVar Gene-Phenotype Associations

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

Spondylometaepiphyseal dysplasia short limb-hand type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylometaepiphyseal dysplasia short limb-hand type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary nonpolyposis colorectal cancer type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary nonpolyposis colorectal cancer type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary nonpolyposis colorectal cancer type 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary nonpolyposis colorectal cancer type 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary nonpolyposis colorectal cancer type 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary nonpolyposis colorectal cancer type 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Iridogoniodysgenesis, dominant type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Iridogoniodysgenesis, dominant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Groenouw corneal dystrophy type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Groenouw corneal dystrophy type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib 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.

Epilepsy, nocturnal frontal lobe, type 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epilepsy, nocturnal frontal lobe, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epilepsy, nocturnal frontal lobe, type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epilepsy, nocturnal frontal lobe, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epilepsy, nocturnal frontal lobe, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epilepsy, nocturnal frontal lobe, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteogenesis imperfecta type III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteogenesis imperfecta type III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spherocytosis type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spherocytosis type 2 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.

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.

HYPERALDOSTERONISM, FAMILIAL, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the HYPERALDOSTERONISM, FAMILIAL, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sialidosis, type II Gene Set

From ClinVar Gene-Phenotype Associations

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

Glycogen storage disease, type V Gene Set

From ClinVar Gene-Phenotype Associations

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

Oculocutaneous albinism type 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oculocutaneous albinism type 4 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.

Charcot-Marie-Tooth disease type 2I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease type 2I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Charcot-Marie-Tooth disease type 2J Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease type 2J phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Charcot-Marie-Tooth disease type 2C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Charcot-Marie-Tooth disease type 2D Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Charcot-Marie-Tooth disease type 2F Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease type 2F phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Charcot-Marie-Tooth disease type 2P Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease type 2P phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rhizomelic chondrodysplasia punctata type 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Rhizomelic chondrodysplasia punctata type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rhizomelic chondrodysplasia punctata type 3 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.

Congenital myopathy with fiber type disproportion Gene Set

From ClinVar Gene-Phenotype Associations

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

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.

collagen type iv trimer Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the collagen type iv trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

u2-type prespliceosome Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the u2-type prespliceosome cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

collagen type xvi trimer Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the collagen type xvi trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

collagen type viii trimer Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the collagen type viii trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

vacuolar proton-transporting v-type atpase, v1 domain Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the vacuolar proton-transporting v-type atpase, v1 domain cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

saga-type complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the saga-type complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

ino80-type complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the ino80-type complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

proton-transporting v-type atpase, v1 domain Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the proton-transporting v-type atpase, v1 domain cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

collagen type xiii trimer Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the collagen type xiii trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

swi/snf superfamily-type complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the swi/snf superfamily-type complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

ap-type membrane coat adaptor complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the ap-type membrane coat adaptor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

collagen type xi trimer Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the collagen type xi trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

u12-type spliceosomal complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the u12-type spliceosomal complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

sin3-type complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the sin3-type complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

collagen type v trimer Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the collagen type v trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

collagen type iii trimer Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the collagen type iii trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

collagen type ii trimer Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the collagen type ii trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

iswi-type complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the iswi-type complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.