| Name |
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gm2-gangliosidosis, ab variant Gene SetFrom OMIM Gene-Disease Associations genes associated with the gm2-gangliosidosis, ab variant phenotype from the curated OMIM Gene-Disease Associations dataset. |
gm2 Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term gm2 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Ganglioside GM2 (d18:1/24:1(15Z)) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:1/24:1(15Z)) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:0/16:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:0/16:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:1/26:1(17Z)) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:1/26:1(17Z)) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:0/25:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:0/25:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:1/23:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:1/23:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:1/22:1(13Z)) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:1/22:1(13Z)) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:1/26:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:1/26:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:1/24:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:1/24:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:1/14:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:1/14:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:1/12:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:1/12:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:0/24:1(15Z)) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:0/24:1(15Z)) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:0/22:1(13Z)) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:0/22:1(13Z)) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:0/20:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:0/20:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:0/26:1(17Z)) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:0/26:1(17Z)) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:1/16:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:1/16:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:0/23:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:0/23:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:1/18:1(11Z)) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:1/18:1(11Z)) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:0/18:1(11Z)) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:0/18:1(11Z)) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:1/18:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:1/18:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:0/26:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:0/26:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:1/25:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:1/25:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:0/18:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:0/18:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:1/9Z-18:1) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:1/9Z-18:1) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
N-Glycoloylganglioside GM2 Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the N-Glycoloylganglioside GM2 metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:0/22:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:0/22:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:0/24:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:0/24:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:0/12:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:0/12:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:0/18:1(9Z)) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:0/18:1(9Z)) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:1/20:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:1/20:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:0/14:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:0/14:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Ganglioside GM2 (d18:1/22:0) Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Ganglioside GM2 (d18:1/22:0) metabolite from the curated HMDB Metabolites of Enzymes dataset. |
gm2-ganglioside accumulation Gene SetFrom HPO Gene-Disease Associations genes associated with the gm2-ganglioside accumulation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Ganglioside GM2 synthase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ganglioside GM2 synthase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ganglioside GM2 activator Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ganglioside GM2 activator protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Gangliosidoses, Gm2 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gangliosidoses, Gm2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gm2-Ganglioside Accumulation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Gm2-Ganglioside Accumulation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
ganglioside GM2 binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ganglioside GM2 binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ganglioside GM2 binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ganglioside GM2 binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
gm2 cell Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue gm2 cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Immunodeficiency 18, severe combined immunodeficiency variant Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methylmalonic aciduria, cblD type, variant 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methylmalonic aciduria, cblD type, variant 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Porphyria, acute intermittent, nonerythroid variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Porphyria, acute intermittent, nonerythroid variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocystinuria, cblD type, variant 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria, cblD type, variant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysis bullosa, junctional, localisata variant Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Xeroderma pigmentosum, variant type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Xeroderma pigmentosum, variant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia-telangiectasia variant Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 Setproteins in the Oligosaccharyltransferase complex (Stt3A variant) protein complex from the CORUM Protein Complexes dataset. |
Oligosaccharyltransferase complex (Stt3B variant) Gene Setproteins 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 Setproteins 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 Setproteins in the Gamma-secretase complex (APH1A, PSEN1, PSENEN, NCSTN variant) protein complex from the CORUM Protein Complexes dataset. |
Tay-Sachs Disease, AB Variant Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carney Complex Variant from the curated CTD Gene-Disease Associations dataset. |
Xeroderma pigmentosum, variant type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Xeroderma pigmentosum, variant type from the curated CTD Gene-Disease Associations dataset. |
RETT SYNDROME, CONGENITAL VARIANT Gene SetFrom 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 SetFrom DISEASES Text-mining Gene-Disease Association 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 SetFrom DISEASES Text-mining Gene-Disease Association 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 SetFrom DISEASES Text-mining Gene-Disease Association 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 SetFrom DISEASES Text-mining Gene-Disease Association 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the lymphoma/leukemia, b-cell, variant phenotype from the curated OMIM Gene-Disease Associations dataset. |
homocystinuria, cbld type, variant 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the homocystinuria, cbld type, variant 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
rett syndrome, congenital variant Gene SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the diastrophic dysplasia, broad bone-platyspondylic variant phenotype from the curated OMIM Gene-Disease Associations dataset. |
{creutzfeldt-jakob disease, variant, resistance to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {creutzfeldt-jakob disease, variant, resistance to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
xeroderma pigmentosum, variant type Gene SetFrom OMIM Gene-Disease Associations genes associated with the xeroderma pigmentosum, variant type phenotype from the curated OMIM Gene-Disease Associations dataset. |
rett syndrome, preserved speech variant Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the porphyria, acute intermittent, nonerythroid variant phenotype from the curated OMIM Gene-Disease Associations dataset. |
methylmalonic aciduria, cbld type, variant 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria, cbld type, variant 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency 18, scid variant Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the carney complex variant phenotype from the curated OMIM Gene-Disease Associations dataset. |
New Variant Creutzfeldt-Jakob Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease New Variant Creutzfeldt-Jakob Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Prinzmetal'S Variant Angina Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Prinzmetal'S Variant Angina in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Akinetic-Rigid Variant Of Huntington Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Akinetic-Rigid Variant Of Huntington Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Behavioral Variant Of Frontotemporal Dementia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Behavioral Variant Of Frontotemporal Dementia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cutaneous Fibrous Histiocytoma, Epithelioid Variant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cutaneous Fibrous Histiocytoma, Epithelioid Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Follicular Variant Thyroid Gland Papillary Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Follicular Variant Thyroid Gland Papillary Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lewy Body Variant Of Alzheimer Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lewy Body Variant Of Alzheimer Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metachromatic Leukodystrophy Variant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metachromatic Leukodystrophy Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hairy Cell Leukemia Variant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hairy Cell Leukemia Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fast Acetylator Due To N-Acetyltransferase Enzyme Variant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fast Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multiple System Atrophy, Cerebellar Variant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multiple System Atrophy, Cerebellar Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Blastoid Variant Mantle Cell Lymphoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Blastoid Variant Mantle Cell Lymphoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pleomorphic Variant Mantle Cell Lymphoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pleomorphic Variant Mantle Cell Lymphoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dandy Walker Variant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dandy Walker Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Slow Acetylator Due To N-Acetyltransferase Enzyme Variant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Slow Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Estren-Dameshek Variant Of Fanconi Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Estren-Dameshek Variant Of Fanconi Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Estren-Dameshek Variant Of Fanconi Pancytopenia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Estren-Dameshek Variant Of Fanconi Pancytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Heterotopia, Periventricular, Ehlers-Danlos Variant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Heterotopia, Periventricular, Ehlers-Danlos Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hexosaminidase Alpha-Subunit Deficiency (Variant B) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hexosaminidase Alpha-Subunit Deficiency (Variant B) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cough Variant Asthma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cough Variant Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vohwinkel Syndrome, Variant Form Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vohwinkel Syndrome, Variant Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Rett Syndrome, Zappella Variant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rett Syndrome, Zappella Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Tangier Disease, Variant Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Tangier Disease, Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Apoe2 Variant Phenotype Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Apoe2 Variant Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Apoe4 Variant Phenotype Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Apoe4 Variant Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Apoe5 Variant Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Apoe5 Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Bche, H Variant Phenotype Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Bche, H Variant Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Bche, J Variant Phenotype Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Bche, J Variant Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Cpt1A Arctic Variant Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cpt1A Arctic Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Creutzfeldt-Jakob Disease, Heidenhain Variant Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Creutzfeldt-Jakob Disease, Heidenhain Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Jk-Null Variant, Finnish Type Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Jk-Null Variant, Finnish Type in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Transferrin Variant Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Transferrin Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
FTO obesity variant mechanism Gene SetFrom WikiPathways Pathways 2024 proteins participating in the FTO obesity variant mechanism pathway from the WikiPathways Pathways 2024 dataset. |
SARS CoV 2 B 1 1 7 variant antagonises innate immune activation Gene SetFrom WikiPathways Pathways 2024 proteins participating in the SARS CoV 2 B 1 1 7 variant antagonises innate immune activation pathway from the WikiPathways Pathways 2024 dataset. |
Defective F9 variant does not activate FX Gene Setproteins participating in the Defective F9 variant does not activate FX pathway from the Reactome Pathways 2024 dataset. |
Defective VWF cleavage by ADAMTS13 variant Gene Setproteins participating in the Defective VWF cleavage by ADAMTS13 variant pathway from the Reactome Pathways 2024 dataset. |
Defective binding of VWF variant to GPIb:IX:V Gene Setproteins participating in the Defective binding of VWF variant to GPIb:IX:V pathway from the Reactome Pathways 2024 dataset. |
Defective cofactor function of FVIIIa variant Gene Setproteins participating in the Defective cofactor function of FVIIIa variant pathway from the Reactome Pathways 2024 dataset. |
Enhanced binding of GP1BA variant to VWF multimer:collagen Gene Setproteins participating in the Enhanced binding of GP1BA variant to VWF multimer:collagen pathway from the Reactome Pathways 2024 dataset. |
Enhanced cleavage of VWF variant by ADAMTS13 Gene Setproteins participating in the Enhanced cleavage of VWF variant by ADAMTS13 pathway from the Reactome Pathways 2024 dataset. |
H139Hfs13* PPM1K causes a mild variant of MSUD Gene Setproteins participating in the H139Hfs13* PPM1K causes a mild variant of MSUD pathway from the Reactome Pathways 2024 dataset. |
IkBA variant leads to EDA-ID Gene Setproteins participating in the IkBA variant leads to EDA-ID pathway from the Reactome Pathways 2024 dataset. |
Variant SLC6A14 may confer susceptibility towards obesity Gene Setproteins participating in the Variant SLC6A14 may confer susceptibility towards obesity pathway from the Reactome Pathways 2024 dataset. |
Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)_5619101 Gene Setproteins participating in the Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)_5619101 pathway from the Reactome Pathways 2024 dataset. |
Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)_5660686 Gene Setproteins participating in the Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)_5660686 pathway from the Reactome Pathways 2024 dataset. |
Ohdo syndrome, SBBYS variant Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Ohdo syndrome, SBBYS variant from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Variant Creutzfeldt-Jakob disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 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 2025 dataset. |
Cough variant asthma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cough variant asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Xeroderma pigmentosum variant type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Xeroderma pigmentosum variant type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neuronal ceroid lipofuscinosis 8 northern epilepsy variant in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Eosinophilic variant of chromophobe renal cell carcinoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 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 2025 dataset. |
Ohdo syndrome, SBBYS variant Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ohdo syndrome, SBBYS variant in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Tall cell variant papillary carcinoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 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 2025 dataset. |
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neuronal ceroid lipofuscinosis 8 northern epilepsy variant phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ataxia - telangiectasia variant Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ataxia - telangiectasia variant phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Xeroderma pigmentosum variant Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Xeroderma pigmentosum variant phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Transferrin variant Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Transferrin variant phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Reclassified - variant of unknown significance Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Reclassified - variant of unknown significance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Variant of unknown significance Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Variant of unknown significance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Factor VII Marburg I Variant Thrombophilia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Factor VII Marburg I Variant Thrombophilia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Behavioral variant of frontotemporal dementia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Behavioral variant of frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Venous thromboembolism adjusted for sickle cell variant rs77121243-T Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Venous thromboembolism adjusted for sickle cell variant rs77121243-T phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe malaria (adjusted for sickle cell variant rs334) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe malaria (adjusted for sickle cell variant rs334) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Creutzfeldt-Jakob disease (variant) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Creutzfeldt-Jakob disease (variant) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
VARIANT MCH Gene Setinteracting proteins for the VARIANT MCH drug from theDGIdb Drug Targets 2026 dataset. |