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Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy from the curated CTD Gene-Disease Associations dataset. |
polyhydramnios, megalencephaly, and symptomatic epilepsy Gene SetFrom OMIM Gene-Disease Associations genes associated with the polyhydramnios, megalencephaly, and symptomatic epilepsy phenotype from the curated OMIM Gene-Disease Associations dataset. |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
polyhydramnios, megalencephaly, and symptomatic epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease polyhydramnios, megalencephaly, and symptomatic epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
epilepsy, absence; epilepsy, generalized; epilepsy, reflex; myoclonic epilepsy, juvenile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, absence; epilepsy, generalized; epilepsy, reflex; myoclonic epilepsy, juvenile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Symptomatic Generalized Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Symptomatic Generalized Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Symptomatic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Symptomatic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Symptomatic Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Symptomatic Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cerebellar Granule Cell Hypertrophy And Megalencephaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cerebellar Granule Cell Hypertrophy And Megalencephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
MTOR-related megalencephaly and pigmentary mosaicism in skin Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MTOR-related megalencephaly and pigmentary mosaicism in skin phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Polyhydramnios Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polyhydramnios from the curated CTD Gene-Disease Associations dataset. |
polyhydramnios Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease polyhydramnios in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
polyhydramnios Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term polyhydramnios in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
polyhydramnios Gene SetFrom HPO Gene-Disease Associations genes associated with the polyhydramnios phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
polyhydramnios Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the polyhydramnios phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
Polyhydramnios Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Polyhydramnios in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
polyhydramnios Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the polyhydramnios phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Polyhydramnios Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Polyhydramnios in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Polyhydramnios Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Polyhydramnios phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
symptomatic Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term symptomatic in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
symptomatic seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the symptomatic seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Symptomatic Carotid Artery Stenosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Symptomatic Carotid Artery Stenosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Symptomatic Torsion Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Symptomatic Torsion Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Aortic Stenosis Symptomatic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Aortic Stenosis Symptomatic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Symptomatic Infantile Spasms Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Symptomatic Infantile Spasms in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Symptomatic Irreversible Pulpitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Symptomatic Irreversible Pulpitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Symptomatic Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Symptomatic Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) Gene Setproteins participating in the Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) pathway from the Reactome Pathways 2024 dataset. |
epilepsy; myoclonic epilepsy, juvenile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; myoclonic epilepsy, juvenile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, absence; epilepsy, generalized Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, absence; epilepsy, generalized in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, generalized; epilepsy, reflex Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, generalized; epilepsy, reflex in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, generalized; epilepsy, tonic-clonic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, generalized; epilepsy, tonic-clonic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukoencephalopathy, cystic, without megalencephaly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukoencephalopathy, cystic, without megalencephaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukoencephalopathy, Cystic, Without Megalencephaly Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukoencephalopathy, Cystic, Without Megalencephaly from the curated CTD Gene-Disease Associations dataset. |
Megalencephaly Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Megalencephaly from the curated CTD Gene-Disease Associations dataset. |
megalencephaly Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term megalencephaly in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
megalencephaly Gene SetFrom HPO Gene-Disease Associations genes associated with the megalencephaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukoencephalopathy, cystic, without megalencephaly Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukoencephalopathy, cystic, without megalencephaly phenotype from the curated OMIM Gene-Disease Associations dataset. |
macrocephaly/megalencephaly syndrome, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the macrocephaly/megalencephaly syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
megalencephaly-capillary malformation-polymicrogyria syndrome, somatic Gene SetFrom OMIM Gene-Disease Associations genes associated with the megalencephaly-capillary malformation-polymicrogyria syndrome, somatic phenotype from the curated OMIM Gene-Disease Associations dataset. |
Megalencephaly Cutis Marmorata Telangiectatica Congenita Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Megalencephaly Cutis Marmorata Telangiectatica Congenita in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Megalencephaly, Autosomal Dominant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Megalencephaly, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Megalencephaly, Polymicrogyria, Postaxial Polydactyly, Hydrocephalus Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Megalencephaly, Polymicrogyria, Postaxial Polydactyly, Hydrocephalus Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Megalencephaly-capillary malformation-polymicrogyria syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Megalencephaly-capillary malformation-polymicrogyria syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Megalencephaly Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Megalencephaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Megalencephaly-polydactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Megalencephaly-polydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Macrocephaly/megalencephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Macrocephaly/megalencephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked rolandic epilepsy with mental retardation and speech dyspraxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked rolandic epilepsy with mental retardation and speech dyspraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, epilepsy, and diabetes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, epilepsy, and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, X-linked, with variable learning disabilities and behavior disorders Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, X-linked, with variable learning disabilities and behavior disorders phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Generalized epilepsy and paroxysmal dyskinesia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Generalized epilepsy and paroxysmal dyskinesia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Psychomotor retardation, epilepsy, and craniofacial dysmorphism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Psychomotor retardation, epilepsy, and craniofacial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp from the curated CTD Gene-Disease Associations dataset. |
Generalized Epilepsy and Paroxysmal Dyskinesia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Generalized Epilepsy and Paroxysmal Dyskinesia from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders from the curated CTD Gene-Disease Associations dataset. |
Hyperekplexia and Epilepsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperekplexia and Epilepsy from the curated CTD Gene-Disease Associations dataset. |
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked from the curated CTD Gene-Disease Associations dataset. |
epilepsy and mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy and mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
?rolandic epilepsy, mental retardation, and speech dyspraxia Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?rolandic epilepsy, mental retardation, and speech dyspraxia phenotype from the curated OMIM Gene-Disease Associations dataset. |
generalized epilepsy and paroxysmal dyskinesia Gene SetFrom OMIM Gene-Disease Associations genes associated with the generalized epilepsy and paroxysmal dyskinesia phenotype from the curated OMIM Gene-Disease Associations dataset. |
psychomotor retardation, epilepsy, and craniofacial dysmorphism Gene SetFrom OMIM Gene-Disease Associations genes associated with the psychomotor retardation, epilepsy, and craniofacial dysmorphism phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, x-linked, with variable learning disabilities and behavior disorders Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, x-linked, with variable learning disabilities and behavior disorders phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, epilepsy, and diabetes syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, epilepsy, and diabetes syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, focal, with speech disorder and with or without mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, focal, with speech disorder and with or without mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, progressive myoclonic 1a (unverricht and lundborg) Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 1a (unverricht and lundborg) phenotype from the curated OMIM Gene-Disease Associations dataset. |
Developmental Delay, Epilepsy, And Neonatal Diabetes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Developmental Delay, Epilepsy, And Neonatal Diabetes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hyperekplexia And Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hyperekplexia And Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Epilepsy And Migraine Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Epilepsy And Migraine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Generalized Epilepsy And Paroxysmal Dyskinesia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Generalized Epilepsy And Paroxysmal Dyskinesia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked epilepsy with variable learning disabilities and behavior disorders Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked epilepsy with variable learning disabilities and behavior disorders in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Epilepsy and lamotrigine-induced maculopapular eruptions Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Epilepsy and lamotrigine-induced maculopapular eruptions phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to lamotrigine and valproic acid in genetic generalized epilepsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to lamotrigine and valproic acid in genetic generalized epilepsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds Gene Setproteins participating in the Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways dataset. |
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Epilepsy, progressive myoclonic 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, progressive myoclonic 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, progressive myoclonic 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, progressive myoclonic 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, progressive myoclonic 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, progressive myoclonic 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, partial, with variable foci Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, partial, with variable foci phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant nocturnal frontal lobe epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant nocturnal frontal lobe epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, progressive myoclonic 4, with or without renal failure Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, progressive myoclonic 4, with or without renal failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, nocturnal frontal lobe, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, nocturnal frontal lobe, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Generalized epilepsy with febrile seizures plus 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Generalized epilepsy with febrile seizures plus 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyridoxal 5'-phosphate-dependent epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyridoxal 5'-phosphate-dependent epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amish infantile epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amish infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, progressive myoclonic 2b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, progressive myoclonic 2b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive myoclonus epilepsy with ataxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive myoclonus epilepsy with ataxia 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. |
Generalized epilepsy with febrile seizures plus, type 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Generalized epilepsy with febrile seizures plus, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Generalized epilepsy with febrile seizures plus, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Generalized epilepsy with febrile seizures plus, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Generalized epilepsy with febrile seizures plus, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Generalized epilepsy with febrile seizures plus, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Focal epilepsy with speech disorder with or without mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Focal epilepsy with speech disorder with or without mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, lateral temporal lobe, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, lateral temporal lobe, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, familial adult myoclonic, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, familial adult myoclonic, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe myoclonic epilepsy in infancy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia-focal epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia-focal epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyridoxine-dependent epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyridoxine-dependent epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, nocturnal frontal lobe, type 4 Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, nocturnal frontal lobe, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myoclonic epilepsy, familial infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myoclonic epilepsy, familial infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, Generalized Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Generalized from the curated CTD Gene-Disease Associations dataset. |
Generalized Epilepsy With Febrile Seizures Plus, Type 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Generalized Epilepsy With Febrile Seizures Plus, Type 6 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Frontal Lobe Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Frontal Lobe from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS from the curated CTD Gene-Disease Associations dataset. |
Epilepsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Idiopathic Generalized Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Idiopathic Generalized from the curated CTD Gene-Disease Associations dataset. |
Amish Infantile Epilepsy Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amish Infantile Epilepsy Syndrome from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Female-Restricted, with Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Female-Restricted, with Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Cortical Dysplasia-Focal Epilepsy Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cortical Dysplasia-Focal Epilepsy Syndrome from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Progressive Myoclonic, 1b Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Progressive Myoclonic, 1b from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Rolandic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Rolandic from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, with Epilepsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, with Epilepsy from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Tonic-Clonic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Tonic-Clonic from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, FAMILIAL TEMPORAL LOBE, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, FAMILIAL TEMPORAL LOBE, 3 from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, FAMILIAL TEMPORAL LOBE, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, FAMILIAL TEMPORAL LOBE, 2 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Familial Adult Myoclonic, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Familial Adult Myoclonic, 3 from the curated CTD Gene-Disease Associations dataset. |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Generalized Epilepsy With Febrile Seizures Plus, Type 1 from the curated CTD Gene-Disease Associations dataset. |
Generalized Epilepsy With Febrile Seizures Plus, Type 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Generalized Epilepsy With Febrile Seizures Plus, Type 3 from the curated CTD Gene-Disease Associations dataset. |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Generalized Epilepsy With Febrile Seizures Plus, Type 4 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Temporal Lobe Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Temporal Lobe from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Partial, with Variable Foci Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Partial, with Variable Foci from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, HOT WATER, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, HOT WATER, 1 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Benign Neonatal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Benign Neonatal from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Benign Neonatal, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Benign Neonatal, 3 from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, HOT WATER, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, HOT WATER, 2 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Complex Partial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Complex Partial from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Myoclonic, Benign Adult Familial, Type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Myoclonic, Benign Adult Familial, Type 1 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Absence Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Absence from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Nocturnal Frontal Lobe, Type 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Nocturnal Frontal Lobe, Type 4 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Nocturnal Frontal Lobe, Type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Nocturnal Frontal Lobe, Type 2 from the curated CTD Gene-Disease Associations dataset. |
Pyridoxine-dependent epilepsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyridoxine-dependent epilepsy from the curated CTD Gene-Disease Associations dataset. |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Generalized Epilepsy With Febrile Seizures Plus, Type 2 from the curated CTD Gene-Disease Associations dataset. |
Myoclonic Epilepsy, Juvenile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myoclonic Epilepsy, Juvenile from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Familial Temporal Lobe, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Familial Temporal Lobe, 4 from the curated CTD Gene-Disease Associations dataset. |
MYOCLONIC EPILEPSY, FAMILIAL INFANTILE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOCLONIC EPILEPSY, FAMILIAL INFANTILE from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Nocturnal Frontal Lobe, Type 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Nocturnal Frontal Lobe, Type 3 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Nocturnal Frontal Lobe, Type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Nocturnal Frontal Lobe, Type 1 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Partial, with Pericentral Spikes Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Partial, with Pericentral Spikes from the curated CTD Gene-Disease Associations dataset. |
Epilepsy Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Epilepsy in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
progressive myoclonus epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease progressive myoclonus epilepsy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
juvenile myoclonic epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease juvenile myoclonic epilepsy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
epilepsy syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease epilepsy syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
epilepsy syndrome Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease epilepsy syndrome in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
juvenile absence epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease juvenile absence epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
benign familial infantile epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease benign familial infantile epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
complex partial epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease complex partial epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
visual epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease visual epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
epilepsy syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease epilepsy syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
extratemporal epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease extratemporal epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
epilepsy with generalized tonic-clonic seizures Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease epilepsy with generalized tonic-clonic seizures in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
idiopathic generalized epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease idiopathic generalized epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
generalized epilepsy with febrile seizures plus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease generalized epilepsy with febrile seizures plus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
temporal lobe epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease temporal lobe epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
benign epilepsy with centrotemporal spikes Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease benign epilepsy with centrotemporal spikes in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
benign familial neonatal epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease benign familial neonatal epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
partial motor epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease partial motor epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
progressive myoclonus epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease progressive myoclonus epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
childhood absence epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease childhood absence epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
focal epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease focal epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
early onset absence epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease early onset absence epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
epilepsy; fragile x syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; fragile x syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; anticoagulant complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; anticoagulant complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
drug toxicity; epilepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease drug toxicity; epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; migraine disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; migraine disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myoclonic epilepsy, juvenile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myoclonic epilepsy, juvenile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; malnutrition Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; malnutrition in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, temporal lobe; seizures, febrile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, temporal lobe; seizures, febrile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
drug eruptions; drug hypersensitivity; epilepsy; stevens-johnson syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease drug eruptions; drug hypersensitivity; epilepsy; stevens-johnson syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; stevens-johnson syndrome; urticaria pigmentosa Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; stevens-johnson syndrome; urticaria pigmentosa in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; rett syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; rett syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, tonic-clonic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, tonic-clonic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, generalized Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, generalized in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, temporal lobe Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, temporal lobe in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsies, partial; epilepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsies, partial; epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, post-traumatic; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, post-traumatic; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, temporal lobe; sclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, temporal lobe; sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
childhood absence epilepsy. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease childhood absence epilepsy. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, temporal lobe; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, temporal lobe; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome deletion; epilepsy, generalized; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome deletion; epilepsy, generalized; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, temporal lobe; sclerosis; seizures, febrile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, temporal lobe; sclerosis; seizures, febrile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
drug toxicity; epidermal necrolysis, toxic; epilepsy; stevens-johnson syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease drug toxicity; epidermal necrolysis, toxic; epilepsy; stevens-johnson syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, drug-induced; epilepsy; prenatal exposure delayed effects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, drug-induced; epilepsy; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
idiopathic epilepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease idiopathic epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, temporal lobe; memory disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, temporal lobe; memory disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
temporal lobe epilepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease temporal lobe epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, complex partial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, complex partial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
juvenile myoclonic epilepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease juvenile myoclonic epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brain injuries; epilepsy, post-traumatic; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain injuries; epilepsy, post-traumatic; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cysts; epilepsy; tuberous sclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cysts; epilepsy; tuberous sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; hyperhomocysteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; hyperhomocysteinemia; recurrence; substance withdrawal syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; hyperhomocysteinemia; recurrence; substance withdrawal syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
confusion; epilepsy, temporal lobe; sclerosis; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease confusion; epilepsy, temporal lobe; sclerosis; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, generalized; seizures, febrile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, generalized; seizures, febrile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; hyperammonemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; hyperammonemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, juvenile myoclonic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, juvenile myoclonic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
drug-induced liver injury; epilepsy; hepatitis, toxic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease drug-induced liver injury; epilepsy; hepatitis, toxic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nocturnal frontal lobe epilepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nocturnal frontal lobe epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
confusion; epilepsy, temporal lobe Gene SetFrom GAD Gene-Disease Associations genes associated with the disease confusion; epilepsy, temporal lobe in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; neurotoxicity syndromes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; neurotoxicity syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
generalized epilepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease generalized epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; neurocysticercosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; neurocysticercosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, idiopathic generalized Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, idiopathic generalized in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; seizures, febrile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; seizures, febrile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrophy; epilepsy; hyperhomocysteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrophy; epilepsy; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, frontal lobe Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, frontal lobe in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsies, partial; epilepsy, generalized; seizures, febrile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsies, partial; epilepsy, generalized; seizures, febrile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; seizures; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; seizures; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, frontal lobe; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, frontal lobe; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
schizophrenia; epilepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease schizophrenia; epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term epilepsy in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Epilepsy (generalized) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Epilepsy (generalized) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Epilepsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Epilepsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Epilepsy (remission after treatment) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Epilepsy (remission after treatment) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
focal epilepsy Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease focal epilepsy in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
temporal lobe epilepsy Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease temporal lobe epilepsy in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
epilepsy syndrome Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease epilepsy syndrome in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
Epilepsy, Generalized Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Generalized phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy, Frontal Lobe Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Frontal Lobe phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy, Reflex Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Reflex phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy, Rolandic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Rolandic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy, Tonic-Clonic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Tonic-Clonic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy, Post-Traumatic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Post-Traumatic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy, Temporal Lobe Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Temporal Lobe phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy, Benign Neonatal Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Benign Neonatal phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy, Complex Partial Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Complex Partial phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Myoclonic Epilepsy, Juvenile Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Myoclonic Epilepsy, Juvenile phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy, Absence Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Absence phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
epilepsy, familial focal, with variable foci Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, familial focal, with variable foci phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, progressive myoclonic 3, with or without intracellular inclusions Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 3, with or without intracellular inclusions phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, idiopathic generalized, susceptibility to, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, idiopathic generalized, susceptibility to, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, progressive myoclonic 2b (lafora) Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 2b (lafora) phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, idiopathic generalized, 10} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, idiopathic generalized, 10} phenotype from the curated OMIM Gene-Disease Associations dataset. |
centrotemporal epilepsy Gene SetFrom OMIM Gene-Disease Associations genes associated with the centrotemporal epilepsy phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, juvenile myoclonic, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, juvenile myoclonic, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, partial, with pericentral spikes Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, partial, with pericentral spikes phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, familial temporal lobe, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, familial temporal lobe, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, familial temporal lobe, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, familial temporal lobe, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, familial temporal lobe, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, familial temporal lobe, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, familial temporal lobe, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, familial temporal lobe, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, familial temporal lobe, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, familial temporal lobe, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinal muscular atrophy with progressive myoclonic epilepsy Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinal muscular atrophy with progressive myoclonic epilepsy phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, nocturnal frontal lobe, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, nocturnal frontal lobe, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, childhood absence, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, childhood absence, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, idiopathic generalized, susceptibility to, 9} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, idiopathic generalized, susceptibility to, 9} phenotype from the curated OMIM Gene-Disease Associations dataset. |
amish infantile epilepsy syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the amish infantile epilepsy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
{myoclonic epilepsy, juvenile, susceptibility to, 1} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {myoclonic epilepsy, juvenile, susceptibility to, 1} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, idiopathic generalized, suscpetibility to, 12} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, idiopathic generalized, suscpetibility to, 12} phenotype from the curated OMIM Gene-Disease Associations dataset. |
generalized epilepsy with febrile seizures plus, type 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the generalized epilepsy with febrile seizures plus, type 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?epilepsy, familial adult myoclonic, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?epilepsy, familial adult myoclonic, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, juvenile myoclonic, susceptibility to, 5} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, juvenile myoclonic, susceptibility to, 5} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, childhood absence, susceptibility to, 2} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, childhood absence, susceptibility to, 2} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, idiopathic generalized, susceptibility to, 3} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, idiopathic generalized, susceptibility to, 3} phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, nocturnal frontal lobe, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, nocturnal frontal lobe, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, nocturnal frontal lobe, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, nocturnal frontal lobe, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myoclonic epilepsy, juvenile, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myoclonic epilepsy, juvenile, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, idiopathic generalized, susceptibility to 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, idiopathic generalized, susceptibility to 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, childhood absence, susceptibility to, 6} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, childhood absence, susceptibility to, 6} phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, generalized, with febrile seizures plus, type 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, generalized, with febrile seizures plus, type 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, generalized, with febrile seizures plus, type 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, generalized, with febrile seizures plus, type 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, generalized, with febrile seizures plus, type 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, generalized, with febrile seizures plus, type 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, generalized, with febrile seizures plus, type 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, generalized, with febrile seizures plus, type 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, generalized, with febrile seizures plus, type 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, generalized, with febrile seizures plus, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, generalized, with febrile seizures plus, type 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, generalized, with febrile seizures plus, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia-focal epilepsy syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia-focal epilepsy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, juvenile myoclonic, susceptiblity to, 9} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, juvenile myoclonic, susceptiblity to, 9} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, childhood absence, susceptibility to, 4} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, childhood absence, susceptibility to, 4} 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. |
{epilepsy, juvenile absence, susceptibility to, 2} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, juvenile absence, susceptibility to, 2} phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, hot water, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, hot water, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, hot water, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, hot water, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, progressive myoclonic 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, progressive myoclonic 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, idiopathic generalized, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, idiopathic generalized, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, familial adult myoclonic, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, familial adult myoclonic, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, pyridoxine-dependent Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, pyridoxine-dependent phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, juvenile myoclonic, susceptibility to, 8} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, juvenile myoclonic, susceptibility to, 8} phenotype from the curated OMIM Gene-Disease Associations dataset. |
myoclonic epilepsy, infantile, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the myoclonic epilepsy, infantile, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, progressive myoclonic 4, with or without renal failure Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 4, with or without renal failure phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, nocturnal frontal lobe, type 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, nocturnal frontal lobe, type 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, nocturnal frontal lobe, type 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, nocturnal frontal lobe, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, juvenile myoclonic, susceptibility to, 6} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, juvenile myoclonic, susceptibility to, 6} phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, juvenile myoclonic 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, juvenile myoclonic 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, idiopathic generalized, susceptibility to, 2} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, idiopathic generalized, susceptibility to, 2} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy idiopathic generalized, susceptibility to, 8} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy idiopathic generalized, susceptibility to, 8} phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, myoclonic, familial adult, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, myoclonic, familial adult, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, idiopathic generalized, susceptibility to, 6} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, idiopathic generalized, susceptibility to, 6} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, childhood absence, susceptibility to, 5} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, childhood absence, susceptibility to, 5} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, idiopathic generalized, susceptibility to, 11} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, idiopathic generalized, susceptibility to, 11} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, juvenile absence, susceptibility to, 1} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, juvenile absence, susceptibility to, 1} phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, progressive myoclonic 1b Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 1b phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, progressive myoclonic 2a (lafora) Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 2a (lafora) phenotype from the curated OMIM Gene-Disease Associations dataset. |
Myoclonic epilepsy of Lafora Gene Setproteins participating in the Myoclonic epilepsy of Lafora pathway from the Reactome Pathways dataset. |
Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Absence Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Absence Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Awakening Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Awakening Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Childhood Absence Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Childhood Absence Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Drug Resistant Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Drug Resistant Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Juvenile Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Juvenile Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mesial Temporal Lobe Epilepsy With Hippocampal Sclerosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mesial Temporal Lobe Epilepsy With Hippocampal Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sudden Unexplained Death In Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sudden Unexplained Death In Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Severe Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Severe Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Idiopathic Generalized Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Generalized Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Juvenile Absence Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Juvenile Absence Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Dominant Lateral Temporal Lobe Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Lateral Temporal Lobe Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Idiopathic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reflex Epilepsy, Audiogenic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reflex Epilepsy, Audiogenic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Generalized Epilepsy With Febrile Seizures Plus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Generalized Epilepsy With Febrile Seizures Plus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Generialized Epilepsy With Febrile Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Generialized Epilepsy With Febrile Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Progressive Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Progressive Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Post Stroke Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Post Stroke Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Late Onset Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Late Onset Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Rolandic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Rolandic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Adult Familial Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Adult Familial Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Benign Neonatal Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Benign Neonatal Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Amish Infantile Epilepsy Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Amish Infantile Epilepsy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cryptogenic Tonic-Clonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cryptogenic Tonic-Clonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Tonic-Clonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tonic-Clonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Uncinate Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Uncinate Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reflex Epilepsy, Photosensitive Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reflex Epilepsy, Photosensitive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Nocturnal Frontal Lobe Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Generalized Convulsive Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Generalized Convulsive Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Impulsive Petit Mal Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Impulsive Petit Mal Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Juvenile Myoclonic Epilepsy Of Janz Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Juvenile Myoclonic Epilepsy Of Janz in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myoclonic-Atonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myoclonic-Atonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Frontal Epilepsy, Benign, Childhood Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Frontal Epilepsy, Benign, Childhood in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Idiopathic Partial Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Partial Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nocturnal Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nocturnal Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Northern Epilepsy Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Northern Epilepsy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cortical Dysplasia With Focal Epilepsy Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cortical Dysplasia With Focal Epilepsy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Familial Mesial Temporal Lobe Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Familial Mesial Temporal Lobe Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Febrile Infection Related Epilepsy Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Febrile Infection Related Epilepsy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Temporal Epilepsy, Familial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Temporal Epilepsy, Familial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gelastic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gelastic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Atypical Benign Partial Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Atypical Benign Partial Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Secondary Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Secondary Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Secondary Generalized Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Secondary Generalized Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Startle Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Startle Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Neonatal Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Neonatal Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Neonatal Epilepsy, Nonfamilial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Neonatal Epilepsy, Nonfamilial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Amygdalo-Hippocampal Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Amygdalo-Hippocampal Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Focal Epilepsy, Childhood Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Focal Epilepsy, Childhood in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Occipital Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Occipital Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Childhood Benign Occipital Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Childhood Benign Occipital Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Digestive Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Digestive Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Occipital Lobe Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Occipital Lobe Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Rhinencephalic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rhinencephalic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Prickle1-Related Progressive Myoclonus Epilepsy With Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Prickle1-Related Progressive Myoclonus Epilepsy With Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Refractory Frontal Lobe Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Refractory Frontal Lobe Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Menstrual Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Menstrual Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Infantile Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Infantile Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Early Childhood Epilepsy, Myoclonic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Early Childhood Epilepsy, Myoclonic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Idiopathic Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Refractory Occipital Lobe Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Refractory Occipital Lobe Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Refractory Juvenile Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Refractory Juvenile Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Refractory Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Refractory Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Scn8A-Related Epilepsy With Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Scn8A-Related Epilepsy With Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cryptogenic Partial Complex Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cryptogenic Partial Complex Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Generalized Epilepsy With Febrile Seizures Plus, 7 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Generalized Epilepsy With Febrile Seizures Plus, 7 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Immersion Related Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Immersion Related Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Eating Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Eating Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Myoclonic Epilepsy With Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Myoclonic Epilepsy With Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Epilepsy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
sudden unexpected death in epilepsy Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the sudden unexpected death in epilepsy phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Myoclonic epilepsy of Lafora Gene Setproteins participating in the Myoclonic epilepsy of Lafora pathway from the Reactome Pathways 2024 dataset. |
Epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Epilepsy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Childhood absence epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Childhood absence epilepsy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Absence epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Absence epilepsy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Focal epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Focal epilepsy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Familial temporal lobe epilepsy 1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Familial temporal lobe epilepsy 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Juvenile myoclonic epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Juvenile myoclonic epilepsy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Temporal lobe epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Temporal lobe epilepsy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Idiopathic generalized epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Idiopathic generalized epilepsy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Generalized epilepsy with febrile seizures plus Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Generalized epilepsy with febrile seizures plus from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Frontal lobe epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Frontal lobe epilepsy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Autosomal dominant nocturnal frontal lobe epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal dominant nocturnal frontal lobe epilepsy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
pyridoxine-dependent epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease pyridoxine-dependent epilepsy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Familial focal epilepsy with variable foci Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Familial focal epilepsy with variable foci from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Progressive myoclonus epilepsy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 1B Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Progressive myoclonus epilepsy 1B from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 1A Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Progressive myoclonus epilepsy 1A from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Spinal muscular atrophy with progressive myoclonic epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Spinal muscular atrophy with progressive myoclonic epilepsy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 4 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Progressive myoclonus epilepsy 4 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Epilepsy Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Epilepsy in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Idiopathic generalized epilepsy Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Idiopathic generalized epilepsy in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Focal epilepsy Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Focal epilepsy in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive myoclonus epilepsy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive myoclonus epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive myoclonus epilepsy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Temporal lobe epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Temporal lobe epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Focal epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Focal epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Extratemporal epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Extratemporal epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Absence epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Absence epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Idiopathic generalized epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Idiopathic generalized epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Idiopathic generalized epilepsy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Idiopathic generalized epilepsy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Childhood absence epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Childhood absence epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Juvenile absence epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Juvenile absence epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Idiopathic generalized epilepsy 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Idiopathic generalized epilepsy 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant nocturnal frontal lobe epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant nocturnal frontal lobe epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Juvenile myoclonic epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Juvenile myoclonic epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Frontal lobe epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Frontal lobe epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Generalized epilepsy with febrile seizures plus 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Generalized epilepsy with febrile seizures plus 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Benign epilepsy with centrotemporal spikes Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Benign epilepsy with centrotemporal spikes in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Generalized epilepsy with febrile seizures plus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Generalized epilepsy with febrile seizures plus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Epilepsy with generalized tonic-clonic seizures Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Epilepsy with generalized tonic-clonic seizures in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Benign familial infantile epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Benign familial infantile epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial temporal lobe epilepsy 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial temporal lobe epilepsy 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Idiopathic generalized epilepsy 12 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Idiopathic generalized epilepsy 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Juvenile myoclonic epilepsy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Juvenile myoclonic epilepsy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial temporal lobe epilepsy 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial temporal lobe epilepsy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Juvenile absence epilepsy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Juvenile absence epilepsy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Visual epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Visual epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autoimmune epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autoimmune epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Partial motor epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Partial motor epilepsy 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. |
Spinal muscular atrophy with progressive myoclonic epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinal muscular atrophy with progressive myoclonic epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial adult myoclonic epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial adult myoclonic epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Complex partial epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Complex partial epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive myoclonus epilepsy 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
early-onset vitamin B6-dependent epilepsy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease early-onset vitamin B6-dependent epilepsy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
myoclonic-atonic epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myoclonic-atonic epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 1A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive myoclonus epilepsy 1A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
pyridoxine-dependent epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease pyridoxine-dependent epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial temporal lobe epilepsy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial temporal lobe epilepsy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial temporal lobe epilepsy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial temporal lobe epilepsy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Photosensitive epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Photosensitive epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial adult myoclonic epilepsy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial adult myoclonic epilepsy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Early onset absence epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Early onset absence epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Reflex epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Reflex epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial focal epilepsy with variable foci Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial focal epilepsy with variable foci in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cortical dysplasia-focal epilepsy syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cortical dysplasia-focal epilepsy syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Benign familial neonatal epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Benign familial neonatal epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive myoclonus epilepsy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial temporal lobe epilepsy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial temporal lobe epilepsy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Generalized epilepsy with febrile seizures plus 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Generalized epilepsy with febrile seizures plus 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial temporal lobe epilepsy 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial temporal lobe epilepsy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial adult myoclonic epilepsy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial adult myoclonic epilepsy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hot water epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hot water epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Generalized epilepsy with febrile seizures plus 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Generalized epilepsy with febrile seizures plus 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial adult myoclonic epilepsy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial adult myoclonic epilepsy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial adult myoclonic epilepsy 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial adult myoclonic epilepsy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive myoclonus epilepsy 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Generalized epilepsy with febrile seizures plus 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Generalized epilepsy with febrile seizures plus 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Idiopathic generalized epilepsy 13 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Idiopathic generalized epilepsy 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial adult myoclonic epilepsy 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial adult myoclonic epilepsy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial focal epilepsy with variable foci 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial focal epilepsy with variable foci 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Idiopathic generalized epilepsy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Idiopathic generalized epilepsy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial temporal lobe epilepsy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial temporal lobe epilepsy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial adult myoclonic epilepsy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial adult myoclonic epilepsy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial focal epilepsy with variable foci 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial focal epilepsy with variable foci 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Juvenile myoclonic epilepsy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Juvenile myoclonic epilepsy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
early-onset vitamin B6-dependent epilepsy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease early-onset vitamin B6-dependent epilepsy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 1B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive myoclonus epilepsy 1B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
early-onset epilepsy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease early-onset epilepsy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Generalized epilepsy with febrile seizures plus 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Generalized epilepsy with febrile seizures plus 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Simple partial epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Simple partial epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Idiopathic generalized epilepsy 11 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Idiopathic generalized epilepsy 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Idiopathic generalized epilepsy 10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Idiopathic generalized epilepsy 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant nocturnal frontal lobe epilepsy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant nocturnal frontal lobe epilepsy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Idiopathic generalized epilepsy 14 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Idiopathic generalized epilepsy 14 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial adult myoclonic epilepsy 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial adult myoclonic epilepsy 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive myoclonus epilepsy 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Idiopathic generalized epilepsy 15 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Idiopathic generalized epilepsy 15 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Idiopathic generalized epilepsy 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Idiopathic generalized epilepsy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Idiopathic generalized epilepsy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Idiopathic generalized epilepsy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonic epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive myoclonic epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myoclonic epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myoclonic epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Juvenile myoclonic epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Juvenile myoclonic epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myoclonic epilepsy of Lafora Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myoclonic epilepsy of Lafora phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Idiopathic generalized epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Idiopathic generalized epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 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. |
Autosomal dominant epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cortical dysplasia-focal epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cortical dysplasia-focal epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Generalized epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Generalized epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal/infantile epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal/infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Self-limited epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Self-limited epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Benign familial infantile epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Benign familial infantile epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Benign sporadic infantile epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Benign sporadic infantile epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe myoclonic epilepsy in infancy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant nocturnal frontal lobe epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant nocturnal frontal lobe epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pyridoxine-dependent epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyridoxine-dependent epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Benign Neonatal Epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Benign Neonatal Epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spinal muscular atrophy-progressive myoclonic epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial focal epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial focal epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
KCNQ1-related epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the KCNQ1-related epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Self-limited familial infantile epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Self-limited familial infantile epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Focal epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Focal epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autism spectrum disorder - epilepsy - arthrogryposis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autism spectrum disorder - epilepsy - arthrogryposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial temporal lobe epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial temporal lobe epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Generalized epilepsy-paroxysmal dyskinesia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Generalized epilepsy-paroxysmal dyskinesia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rolandic epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rolandic epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial infantile myoclonic epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial infantile myoclonic epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-epilepsy-extrapyramidal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-epilepsy-extrapyramidal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Epilepsy of infancy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Epilepsy of infancy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SCN2A-related generalized epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SCN2A-related generalized epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial sleep-related hypermotor epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial sleep-related hypermotor epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PCDH19-related epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PCDH19-related epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Benign Rolandic epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Benign Rolandic epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spastic paraplegia-severe developmental delay-epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spastic paraplegia-severe developmental delay-epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Childhood absence epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Childhood absence epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pharmacoresistant multifocal epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pharmacoresistant multifocal epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Non-lesional focal epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Non-lesional focal epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ACTL6B-related recessive epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the ACTL6B-related recessive epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
KCNAB2-related epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the KCNAB2-related epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PCDH19-related epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PCDH19-related epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TNK2-associated Epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TNK2-associated Epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
NUS1-related epilepsy-myoclonus-ataxia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the NUS1-related epilepsy-myoclonus-ataxia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
MICAL1-related Lateral temporal epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MICAL1-related Lateral temporal epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
BSN related epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the BSN related epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rare epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rare epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Benign childhood epilepsy with centro-temporal spikes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Benign childhood epilepsy with centro-temporal spikes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to antiepileptic drugs in genetic generalized epilepsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to antiepileptic drugs in genetic generalized epilepsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to valproic acid in genetic generalized epilepsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to valproic acid in genetic generalized epilepsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to lamotrigine in genetic generalized epilepsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to lamotrigine in genetic generalized epilepsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to levetiracetam in genetic generalized epilepsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to levetiracetam in genetic generalized epilepsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to ketogenic dietary therapies in epilepsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to ketogenic dietary therapies in epilepsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Generalized epilepsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Generalized epilepsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Mesial temporal lobe epilepsy with hippocampal sclerosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Mesial temporal lobe epilepsy with hippocampal sclerosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Epilepsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Epilepsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Epilepsy (remission after treatment) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Epilepsy (remission after treatment) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Childhood absence epilepsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Childhood absence epilepsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Juvenile myoclonic epilepsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Juvenile myoclonic epilepsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Focal epilepsy (with hippocampal sclerosis) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Focal epilepsy (with hippocampal sclerosis) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Focal epilepsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Focal epilepsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression Gene SetFrom Biocarta Pathways proteins participating in the basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression pathway from the Biocarta Pathways dataset. |
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coloboma, uveal, with cleft lip and palate and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diabetes mellitus AND insipidus with optic atrophy AND deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diabetes mellitus AND insipidus with optic atrophy AND deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH from the curated CTD Gene-Disease Associations dataset. |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation from the curated CTD Gene-Disease Associations dataset. |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux from the curated CTD Gene-Disease Associations dataset. |
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations from the curated CTD Gene-Disease Associations dataset. |
postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anxiety and hostility and depression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anxiety and hostility and depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
frontotemporal dementia and pick-like 3r and 4r tauopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease frontotemporal dementia and pick-like 3r and 4r tauopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
squamous cell carcinomas of the head and neck (scchn) and breast cancer Gene SetFrom GAD Gene-Disease Associations genes associated with the disease squamous cell carcinomas of the head and neck (scchn) and breast cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
vitamins and metabolites in pregnant women and neonates Gene SetFrom GAD Gene-Disease Associations genes associated with the disease vitamins and metabolites in pregnant women and neonates in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
racemase and epimerase activity, acting on amino acids and derivatives Gene SetFrom GO Molecular Function Annotations 2015 genes performing the racemase and epimerase activity, acting on amino acids and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
racemase and epimerase activity, acting on carbohydrates and derivatives Gene SetFrom GO Molecular Function Annotations 2015 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation phenotype from the curated OMIM Gene-Disease Associations dataset. |
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Gene SetFrom OMIM Gene-Disease Associations genes associated with the microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, progressive, seizures, and cerebral and cerebellar atrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Setproteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways dataset. |
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Setproteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways dataset. |
PI and PC transport between ER and Golgi membranes Gene Setproteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways dataset. |
Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Setproteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways dataset. |
FGFR1c and Klotho ligand binding and activation Gene Setproteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways dataset. |
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Setproteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways dataset. |
Synthesis and processing of ENV and VPU Gene Setproteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways dataset. |
Synthesis and interconversion of nucleotide di- and triphosphates Gene Setproteins participating in the Synthesis and interconversion of nucleotide di- and triphosphates pathway from the Reactome Pathways dataset. |
SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset. |
SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
racemase and epimerase activity, acting on carbohydrates and derivatives Gene SetFrom GO Molecular Function Annotations 2023 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
SRF and miRs in smooth muscle differentiation and proliferation Gene SetFrom WikiPathways Pathways 2024 proteins participating in the SRF and miRs in smooth muscle differentiation and proliferation pathway from the WikiPathways Pathways 2024 dataset. |
SREBF and miR33 in cholesterol and lipid homeostasis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis pathway from the WikiPathways Pathways 2024 dataset. |
RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis pathway from the WikiPathways Pathways 2024 dataset. |
ApoE and miR 146 in inflammation and atherosclerosis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the ApoE and miR 146 in inflammation and atherosclerosis pathway from the WikiPathways Pathways 2024 dataset. |
Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine pathway from the WikiPathways Pathways 2024 dataset. |
Somatroph axis GH and its relationship to dietary restriction and aging Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Somatroph axis GH and its relationship to dietary restriction and aging pathway from the WikiPathways Pathways 2024 dataset. |
Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms pathway from the WikiPathways Pathways 2024 dataset. |
GLP 1 from intestine and pancreas and role in glucose homeostasis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the GLP 1 from intestine and pancreas and role in glucose homeostasis pathway from the WikiPathways Pathways 2024 dataset. |
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Setproteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways 2024 dataset. |
Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) Gene Setproteins participating in the Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) pathway from the Reactome Pathways 2024 dataset. |
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Setproteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways 2024 dataset. |
FGFR1c and Klotho ligand binding and activation Gene Setproteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways 2024 dataset. |
MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Gene Setproteins participating in the MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis pathway from the Reactome Pathways 2024 dataset. |
Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Setproteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways 2024 dataset. |
PI and PC transport between ER and Golgi membranes Gene Setproteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways 2024 dataset. |
PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 Gene Setproteins participating in the PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 pathway from the Reactome Pathways 2024 dataset. |
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Gene Setproteins participating in the Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks pathway from the Reactome Pathways 2024 dataset. |
Synthesis and processing of ENV and VPU Gene Setproteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways 2024 dataset. |
Transcriptional and post-translational regulation of MITF-M expression and activity Gene Setproteins participating in the Transcriptional and post-translational regulation of MITF-M expression and activity pathway from the Reactome Pathways 2024 dataset. |
Transport of bile salts and organic acids, metal ions and amine compounds Gene Setproteins participating in the Transport of bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways 2024 dataset. |
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Setproteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways 2024 dataset. |
racemase and epimerase activity, acting on carbohydrates and derivatives Gene SetFrom GO Molecular Function Annotations 2025 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Vertebral anomalies and variable endocrine and T-cell dysfunction Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Vertebral anomalies and variable endocrine and T-cell dysfunction in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Vertebral anomalies and variable endocrine and T-cell dysfunction Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Vertebral anomalies and variable endocrine and T-cell dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Regulation of gene expression and signal transduction in immune and stress responses Gene SetFrom CM4AI U2OS Cell Map Protein Localization Assemblies proteins comprising Regulation of gene expression and signal transduction in immune and stress responses assembly using integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset. |
Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Basic cell groups and regions Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Basic cell groups and regions relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
head and face region of M1 Gene SetFrom Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles genes with high or low expression in head and face region of M1 relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. |
telomeres telomerase cellular aging and immortality Gene SetFrom Biocarta Pathways proteins participating in the telomeres telomerase cellular aging and immortality pathway from the Biocarta Pathways dataset. |
mcalpain and friends in cell motility Gene SetFrom Biocarta Pathways proteins participating in the mcalpain and friends in cell motility pathway from the Biocarta Pathways dataset. |
role of ppar-gamma coactivators in obesity and thermogenesis Gene SetFrom Biocarta Pathways proteins participating in the role of ppar-gamma coactivators in obesity and thermogenesis pathway from the Biocarta Pathways dataset. |
il12 and stat4 dependent signaling pathway in th1 development Gene SetFrom Biocarta Pathways proteins participating in the il12 and stat4 dependent signaling pathway in th1 development pathway from the Biocarta Pathways dataset. |
hypoxia and p53 in the cardiovascular system Gene SetFrom Biocarta Pathways proteins participating in the hypoxia and p53 in the cardiovascular system pathway from the Biocarta Pathways dataset. |
lissencephaly gene (lis1) in neuronal migration and development Gene SetFrom Biocarta Pathways proteins participating in the lissencephaly gene (lis1) in neuronal migration and development pathway from the Biocarta Pathways dataset. |
role of erbb2 in signal transduction and oncology Gene SetFrom Biocarta Pathways proteins participating in the role of erbb2 in signal transduction and oncology pathway from the Biocarta Pathways dataset. |
corticosteroids and cardioprotection Gene SetFrom Biocarta Pathways proteins participating in the corticosteroids and cardioprotection pathway from the Biocarta Pathways dataset. |
cyclins and cell cycle regulation Gene SetFrom Biocarta Pathways proteins participating in the cyclins and cell cycle regulation pathway from the Biocarta Pathways dataset. |
mechanism of acetaminophen activity and toxicity Gene SetFrom Biocarta Pathways proteins participating in the mechanism of acetaminophen activity and toxicity pathway from the Biocarta Pathways dataset. |
nfat and hypertrophy of the heart Gene SetFrom Biocarta Pathways proteins participating in the nfat and hypertrophy of the heart pathway from the Biocarta Pathways dataset. |
acetylation and deacetylation of rela in nucleus Gene SetFrom Biocarta Pathways proteins participating in the acetylation and deacetylation of rela in nucleus pathway from the Biocarta Pathways dataset. |
thrombin signaling and protease-activated receptors Gene SetFrom Biocarta Pathways proteins participating in the thrombin signaling and protease-activated receptors pathway from the Biocarta Pathways dataset. |
antigen processing and presentation Gene SetFrom Biocarta Pathways proteins participating in the antigen processing and presentation pathway from the Biocarta Pathways dataset. |
stathmin and breast cancer resistance to antimicrotubule agents Gene SetFrom Biocarta Pathways proteins participating in the stathmin and breast cancer resistance to antimicrotubule agents pathway from the Biocarta Pathways dataset. |
role of ß-arrestins in the activation and targeting of map kinases Gene SetFrom Biocarta Pathways proteins participating in the role of ß-arrestins in the activation and targeting of map kinases pathway from the Biocarta Pathways dataset. |
cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway Gene SetFrom Biocarta Pathways proteins participating in the cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway pathway from the Biocarta Pathways dataset. |
role of pi3k subunit p85 in regulation of actin organization and cell migration Gene SetFrom Biocarta Pathways proteins participating in the role of pi3k subunit p85 in regulation of actin organization and cell migration pathway from the Biocarta Pathways dataset. |
btg family proteins and cell cycle regulation Gene SetFrom Biocarta Pathways proteins participating in the btg family proteins and cell cycle regulation pathway from the Biocarta Pathways dataset. |
control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) Gene SetFrom Biocarta Pathways proteins participating in the control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) pathway from the Biocarta Pathways dataset. |
endocytotic role of ndk phosphins and dynamin Gene SetFrom Biocarta Pathways proteins participating in the endocytotic role of ndk phosphins and dynamin pathway from the Biocarta Pathways dataset. |
regulation of eif-4e and p70s6 kinase Gene SetFrom Biocarta Pathways proteins participating in the regulation of eif-4e and p70s6 kinase pathway from the Biocarta Pathways dataset. |
estrogen responsive protein efp controls cell cycle and breast tumors growth Gene SetFrom Biocarta Pathways proteins participating in the estrogen responsive protein efp controls cell cycle and breast tumors growth pathway from the Biocarta Pathways dataset. |
vegf hypoxia and angiogenesis Gene SetFrom Biocarta Pathways proteins participating in the vegf hypoxia and angiogenesis pathway from the Biocarta Pathways dataset. |
yaci and bcma stimulation of b cell immune responses Gene SetFrom Biocarta Pathways proteins participating in the yaci and bcma stimulation of b cell immune responses pathway from the Biocarta Pathways dataset. |
lck and fyn tyrosine kinases in initiation of tcr activation Gene SetFrom Biocarta Pathways proteins participating in the lck and fyn tyrosine kinases in initiation of tcr activation pathway from the Biocarta Pathways dataset. |
hiv-1 nef: negative effector of fas and tnf Gene SetFrom Biocarta Pathways proteins participating in the hiv-1 nef: negative effector of fas and tnf pathway from the Biocarta Pathways dataset. |
nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells Gene SetFrom Biocarta Pathways proteins participating in the nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells pathway from the Biocarta Pathways dataset. |
ucalpain and friends in cell spread Gene SetFrom Biocarta Pathways proteins participating in the ucalpain and friends in cell spread pathway from the Biocarta Pathways dataset. |
ionomycin and phorbal ester signaling pathway Gene SetFrom Biocarta Pathways proteins participating in the ionomycin and phorbal ester signaling pathway pathway from the Biocarta Pathways dataset. |
carm1 and regulation of the estrogen receptor Gene SetFrom Biocarta Pathways proteins participating in the carm1 and regulation of the estrogen receptor pathway from the Biocarta Pathways dataset. |
phosphoinositides and their downstream targets Gene SetFrom Biocarta Pathways proteins participating in the phosphoinositides and their downstream targets pathway from the Biocarta Pathways dataset. |
melanocyte development and pigmentation pathway Gene SetFrom Biocarta Pathways proteins participating in the melanocyte development and pigmentation pathway pathway from the Biocarta Pathways dataset. |
akap95 role in mitosis and chromosome dynamics Gene SetFrom Biocarta Pathways proteins participating in the akap95 role in mitosis and chromosome dynamics pathway from the Biocarta Pathways dataset. |
transcription factor creb and its extracellular signals Gene SetFrom Biocarta Pathways proteins participating in the transcription factor creb and its extracellular signals pathway from the Biocarta Pathways dataset. |
visceral fat deposits and the metabolic syndrome Gene SetFrom Biocarta Pathways proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset. |
the igf-1 receptor and longevity Gene SetFrom Biocarta Pathways proteins participating in the the igf-1 receptor and longevity pathway from the Biocarta Pathways dataset. |
cdc25 and chk1 regulatory pathway in response to dna damage Gene SetFrom Biocarta Pathways proteins participating in the cdc25 and chk1 regulatory pathway in response to dna damage pathway from the Biocarta Pathways dataset. |
human cytomegalovirus and map kinase pathways Gene SetFrom Biocarta Pathways proteins participating in the human cytomegalovirus and map kinase pathways pathway from the Biocarta Pathways dataset. |
influence of ras and rho proteins on g1 to s transition Gene SetFrom Biocarta Pathways proteins participating in the influence of ras and rho proteins on g1 to s transition pathway from the Biocarta Pathways dataset. |
proteolysis and signaling pathway of notch Gene SetFrom Biocarta Pathways proteins participating in the proteolysis and signaling pathway of notch pathway from the Biocarta Pathways dataset. |
apoptotic dna-fragmentation and tissue homeostasis Gene SetFrom Biocarta Pathways proteins participating in the apoptotic dna-fragmentation and tissue homeostasis pathway from the Biocarta Pathways dataset. |
ion channels and their functional role in vascular endothelium Gene SetFrom Biocarta Pathways proteins participating in the ion channels and their functional role in vascular endothelium pathway from the Biocarta Pathways dataset. |
alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease Gene SetFrom Biocarta Pathways proteins participating in the alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease pathway from the Biocarta Pathways dataset. |
fosb gene expression and drug abuse Gene SetFrom Biocarta Pathways proteins participating in the fosb gene expression and drug abuse pathway from the Biocarta Pathways dataset. |
links between pyk2 and map kinases Gene SetFrom Biocarta Pathways proteins participating in the links between pyk2 and map kinases pathway from the Biocarta Pathways dataset. |
opposing roles of aif in apoptosis and cell survival Gene SetFrom Biocarta Pathways proteins participating in the opposing roles of aif in apoptosis and cell survival pathway from the Biocarta Pathways dataset. |
degradation of the rar and rxr by the proteasome Gene SetFrom Biocarta Pathways proteins participating in the degradation of the rar and rxr by the proteasome pathway from the Biocarta Pathways dataset. |
cadmium induces dna synthesis and proliferation in macrophages Gene SetFrom Biocarta Pathways proteins participating in the cadmium induces dna synthesis and proliferation in macrophages pathway from the Biocarta Pathways dataset. |
erk and pi-3 kinase are necessary for collagen binding in corneal epithelia Gene SetFrom Biocarta Pathways proteins participating in the erk and pi-3 kinase are necessary for collagen binding in corneal epithelia pathway from the Biocarta Pathways dataset. |
role of brca1 brca2 and atr in cancer susceptibility Gene SetFrom Biocarta Pathways proteins participating in the role of brca1 brca2 and atr in cancer susceptibility pathway from the Biocarta Pathways dataset. |
chrebp regulation by carbohydrates and camp Gene SetFrom Biocarta Pathways proteins participating in the chrebp regulation by carbohydrates and camp pathway from the Biocarta Pathways dataset. |
pten dependent cell cycle arrest and apoptosis Gene SetFrom Biocarta Pathways proteins participating in the pten dependent cell cycle arrest and apoptosis pathway from the Biocarta Pathways dataset. |
induction of apoptosis through dr3 and dr4/5 death receptors Gene SetFrom Biocarta Pathways proteins participating in the induction of apoptosis through dr3 and dr4/5 death receptors pathway from the Biocarta Pathways dataset. |
CIITA-18437201-Raji B cells and iDC-human Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the CIITA-18437201-Raji B cells and iDC-human transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
VDR-23401126-LCL-AND-THP1-HUMAN Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the VDR-23401126-LCL-AND-THP1-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
BACH1-22875853-HELA-AND-SCP4-HUMAN Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the BACH1-22875853-HELA-AND-SCP4-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
Hypothyroidism, central, and testicular enlargement Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, central, and testicular enlargement phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Trifunctional protein deficiency with myopathy and neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Foveal hypoplasia and presenile cataract syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arthrogryposis, mental retardation, and seizures Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis, mental retardation, and seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vater association with macrocephaly and ventriculomegaly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vater association with macrocephaly and ventriculomegaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal hamartomas nephroblastomatosis and fetal gigantism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal hamartomas nephroblastomatosis and fetal gigantism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microtia, hearing impairment, and cleft palate Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microtia, hearing impairment, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ichthyosis, spastic quadriplegia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypermanganesemia with dystonia, polycythemia and cirrhosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypermanganesemia with dystonia, polycythemia and cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined cellular and humoral immune defects with granulomas Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined cellular and humoral immune defects with granulomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined d-2- and l-2-hydroxyglutaric aciduria Gene SetFrom 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. |
Sinoatrial node dysfunction and deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sinoatrial node dysfunction and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation with language impairment and autistic features Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation with language impairment and autistic features phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warts, hypogammaglobulinemia, infections, and myelokathexis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warts, hypogammaglobulinemia, infections, and myelokathexis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibular hypoplasia and complex brachydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibular hypoplasia and complex brachydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, anterior maxillary protrusion, and strabismus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, anterior maxillary protrusion, and strabismus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile convulsions and paroxysmal choreoathetosis, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile convulsions and paroxysmal choreoathetosis, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short stature, optic nerve atrophy, and pelger-huet anomaly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short stature, optic nerve atrophy, and pelger-huet anomaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alzheimer disease, familial, 3, with spastic paraparesis and apraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Insulin-resistant diabetes mellitus AND acanthosis nigricans Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Insulin-resistant diabetes mellitus AND acanthosis nigricans phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial anomalies and anterior segment dysgenesis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness with labyrinthine aplasia microtia and microdontia (LAMM) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness with labyrinthine aplasia microtia and microdontia (LAMM) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple Cutaneous and Mucosal Venous Malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple Cutaneous and Mucosal Venous Malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy hereditary sensory and autonomic type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy hereditary sensory and autonomic type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly with mental retardation and digital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with mental retardation and digital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth retardation, developmental delay, coarse facies, and early death Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth retardation, developmental delay, coarse facies, and early death phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inflammatory skin and bowel disease, neonatal, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inflammatory skin and bowel disease, neonatal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom 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. |
Anemia sideroblastic and spinocerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anemia sideroblastic and spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Facial dysmorphism, immunodeficiency, livedo, and short stature Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Facial dysmorphism, immunodeficiency, livedo, and short stature phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, congenital heart defects, and posterior embryotoxon Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infertility associated with multi-tailed spermatozoa and excessive DNA Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infertility associated with multi-tailed spermatozoa and excessive DNA phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Iris coloboma with ptosis, hypertelorism, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Iris coloboma with ptosis, hypertelorism, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rigidity and multifocal seizure syndrome, lethal neonatal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alopecia, neurologic defects, and endocrinopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mullerian aplasia and hyperandrogenism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mullerian aplasia and hyperandrogenism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Knuckle pads, deafness AND leukonychia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease and frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multicentric osteolysis, nodulosis and arthropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multicentric osteolysis, nodulosis and arthropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stapes ankylosis with broad thumb and toes Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stapes ankylosis with broad thumb and toes phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corneal dystrophy and perceptive deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corneal dystrophy and perceptive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy, hereditary motor and sensory, Okinawa type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy, hereditary motor and sensory, Okinawa type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, short stature, and impaired glucose metabolism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, short stature, and impaired glucose metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemorrhagic destruction of the brain, subependymal calcification, and cataracts phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jervell and Lange-Nielsen syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly, alopecia, cutis laxa, and scoliosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly, alopecia, cutis laxa, and scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypomyelination and Congenital Cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypomyelination and Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hirschsprung disease, cardiac defects, and autonomic dysfunction Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hirschsprung disease, cardiac defects, and autonomic dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardiomyopathy dilated with woolly hair and keratoderma Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardiomyopathy dilated with woolly hair and keratoderma phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arthrogryposis, renal dysfunction, and cholestasis 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis, renal dysfunction, and cholestasis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract and cardiomyopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract and cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inflammatory skin and bowel disease, neonatal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inflammatory skin and bowel disease, neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, microphthalmia and nystagmus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, microphthalmia and nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Foveal hypoplasia and anterior segment dysgenesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and anterior segment dysgenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bone fragility with contractures, arterial rupture, and deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bone fragility with contractures, arterial rupture, and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulna and fibula absence of with severe limb deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor v and factor viii, combined deficiency of, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary Paragangliomas and Pheochromocytomas Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary Paragangliomas and Pheochromocytomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Band-like calcification with simplified gyration and polymicrogyria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Band-like calcification with simplified gyration and polymicrogyria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia and hypogonadotropic hypogonadism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia and hypogonadotropic hypogonadism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Optic atrophy and cataract, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Optic atrophy and cataract, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, juvenile, with microcornea and glucosuria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, juvenile, with microcornea and glucosuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, deafness, and narcolepsy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, deafness, and narcolepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Juvenile macular degeneration and hypotrichosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Juvenile macular degeneration and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary motor and sensory neuropathy with optic atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary motor and sensory neuropathy with optic atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary leiomyomatosis and renal cell cancer Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary leiomyomatosis and renal cell cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Monocyte and dendritic cell deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, hiatal hernia and nephrotic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, hiatal hernia and nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, congenital alopecia and nail dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pancreatic agenesis and congenital heart disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pancreatic agenesis and congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jervell and Lange-Nielsen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined malonic and methylmalonic aciduria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined malonic and methylmalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcornea, myopic chorioretinal atrophy, and telecanthus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcornea, myopic chorioretinal atrophy, and telecanthus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glomerulocystic kidney disease with hyperuricemia and isosthenuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis Gyrata syndrome of Beare and Stevenson Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis Gyrata syndrome of Beare and Stevenson phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly and chorioretinopathy, autosomal recessive, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly and chorioretinopathy, autosomal recessive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aniridia, cerebellar ataxia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aniridia, cerebellar ataxia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked hereditary motor and sensory neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked hereditary motor and sensory neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniosynostosis and dental anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniosynostosis and dental anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mycobacterial and viral infections, susceptibility to, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mycobacterial and viral infections, susceptibility to, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, hyperphagia, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, hyperphagia, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebroretinal microangiopathy with calcifications and cysts Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebroretinal microangiopathy with calcifications and cysts phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alacrima, achalasia, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, normal intelligence and immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, normal intelligence and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Calcification of joints and arteries Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Calcification of joints and arteries phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypotrichosis and recurrent skin vesicles Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis and recurrent skin vesicles phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysa bullosa simplex and limb girdle muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epiphyseal dysplasia, multiple, with myopia and conductive deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epiphyseal dysplasia, multiple, with myopia and conductive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutaneous telangiectasia and cancer syndrome, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene SetFrom 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. |
Pineal hyperplasia AND diabetes mellitus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pineal hyperplasia AND diabetes mellitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Morbid obesity and spermatogenic failure Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Morbid obesity and spermatogenic failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Skeletal defects, genital hypoplasia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Striatal necrosis, bilateral, and progressive polyneuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Striatal necrosis, bilateral, and progressive polyneuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary sensory and autonomic neuropathy type IIA Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary sensory and autonomic neuropathy type IIA phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopia, high, with cataract and vitreoretinal degeneration Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopia, high, with cataract and vitreoretinal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined deficiency of factor V and factor VIII, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Camptodactyly, tall stature, and hearing loss syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Camptodactyly, tall stature, and hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corneal fragility keratoglobus, blue sclerae AND joint hypermobility phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyogenic arthritis, pyoderma gangrenosum and acne Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyogenic arthritis, pyoderma gangrenosum and acne 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. |
Growth deficiency and mental retardation with facial dysmorphism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital Cataracts, Facial Dysmorphism, and Neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital Cataracts, Facial Dysmorphism, and Neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, cochlear, with myopia and intellectual impairment Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, cochlear, with myopia and intellectual impairment phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined deficiency of sialidase AND beta galactosidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation with short stature, hypogonadism and abnormal gait Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation with short stature, hypogonadism and abnormal gait phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, postnatal progressive, with seizures and brain atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, postnatal progressive, with seizures and brain atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
calcium- and calmodulin-dependent protein kinase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the calcium- and calmodulin-dependent protein kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
mrna cleavage and polyadenylation specificity factor complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the mrna cleavage and polyadenylation specificity factor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
mitochondrial sorting and assembly machinery complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the mitochondrial sorting and assembly machinery complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
calcium- and calmodulin-dependent protein kinase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the calcium- and calmodulin-dependent protein kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
cortical layer of collagen and cuticulin-based cuticle extracellular matrix Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the cortical layer of collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen and cuticulin-based cuticle extracellular matrix Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
mrna cleavage and polyadenylation specificity factor complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the mrna cleavage and polyadenylation specificity factor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen and cuticulin-based cuticle extracellular matrix part Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix part cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
mitochondrial sorting and assembly machinery complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the mitochondrial sorting and assembly machinery complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
TRBP containing complex (DICER, RPL7A, EIF6, MOV10 and subunits of the 60S ribosomal particle) Gene Setproteins in the TRBP containing complex (DICER, RPL7A, EIF6, MOV10 and subunits of the 60S ribosomal particle) protein complex from the CORUM Protein Complexes dataset. |
NRD complex (Nucleosome remodeling and deacetylation complex) Gene Setproteins in the NRD complex (Nucleosome remodeling and deacetylation complex) protein complex from the CORUM Protein Complexes dataset. |
6S methyltransferase and RG-containing Sm proteins complex Gene Setproteins in the 6S methyltransferase and RG-containing Sm proteins complex protein complex from the CORUM Protein Complexes dataset. |
Remodeling and spacing factor (RSF) complex Gene Setproteins in the Remodeling and spacing factor (RSF) complex protein complex from the CORUM Protein Complexes dataset. |
PBAF complex (Polybromo- and BAF containing complex) Gene Setproteins in the PBAF complex (Polybromo- and BAF containing complex) protein complex from the CORUM Protein Complexes dataset. |
Cleavage and polyadenylation factor (CPSF) Gene Setproteins in the Cleavage and polyadenylation factor (CPSF) protein complex from the CORUM Protein Complexes dataset. |
Apoptosis- and splicing-associated protein complex (ASAP-L), SAP18-RNPS1-Acinus-L Gene Setproteins in the Apoptosis- and splicing-associated protein complex (ASAP-L), SAP18-RNPS1-Acinus-L protein complex from the CORUM Protein Complexes dataset. |
Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial Gene Setproteins in the Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial protein complex from the CORUM Protein Complexes dataset. |
Nucleic and chromatin Fanconi complex Gene Setproteins in the Nucleic and chromatin Fanconi complex protein complex from the CORUM Protein Complexes dataset. |
Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial Gene Setproteins in the Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial protein complex from the CORUM Protein Complexes dataset. |
Apoptosis- and splicing-associated protein complex (ASAP-S), SAP18-RNPS1-Acinus-S Gene Setproteins in the Apoptosis- and splicing-associated protein complex (ASAP-S), SAP18-RNPS1-Acinus-S protein complex from the CORUM Protein Complexes dataset. |
ATP-utilizing chromatin assembly and remodeling factor (hACF) complex Gene Setproteins in the ATP-utilizing chromatin assembly and remodeling factor (hACF) complex protein complex from the CORUM Protein Complexes dataset. |
20S methylosome and RG-containing Sm protein complex Gene Setproteins in the 20S methylosome and RG-containing Sm protein complex protein complex from the CORUM Protein Complexes dataset. |
Amino Acids, Peptides, and Proteins Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Amino Acids, Peptides, and Proteins from the curated CTD Gene-Chemical Interactions dataset. |
Bile Acids and Salts Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Bile Acids and Salts from the curated CTD Gene-Chemical Interactions dataset. |
Prime and Bond NT Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Prime and Bond NT from the curated CTD Gene-Chemical Interactions dataset. |
drospirenone and ethinyl estradiol combination Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical drospirenone and ethinyl estradiol combination from the curated CTD Gene-Chemical Interactions dataset. |
Hypophosphatemic Rickets And Hyperparathyroidism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypophosphatemic Rickets And Hyperparathyroidism from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset. |
Fibular hypoplasia and complex brachydactyly Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibular hypoplasia and complex brachydactyly from the curated CTD Gene-Disease Associations dataset. |
Synovitis granulomatous with uveitis and cranial neuropathies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Synovitis granulomatous with uveitis and cranial neuropathies from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS from the curated CTD Gene-Disease Associations dataset. |
Hereditary Sensory and Motor Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Sensory and Motor Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Preaxial deficiency, postaxial polydactyly and hypospadias Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset. |
Combined Cellular And Humoral Immune Defects With Granulomas Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Cellular And Humoral Immune Defects With Granulomas from the curated CTD Gene-Disease Associations dataset. |
OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS from the curated CTD Gene-Disease Associations dataset. |
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia from the curated CTD Gene-Disease Associations dataset. |
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia from the curated CTD Gene-Disease Associations dataset. |
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis from the curated CTD Gene-Disease Associations dataset. |
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma from the curated CTD Gene-Disease Associations dataset. |
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema from the curated CTD Gene-Disease Associations dataset. |
Microtia, Hearing Impairment, And Cleft Palate Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microtia, Hearing Impairment, And Cleft Palate from the curated CTD Gene-Disease Associations dataset. |
OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, Hereditary Sensory And Autonomic, Type IIB Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type IIB from the curated CTD Gene-Disease Associations dataset. |
Acromegaloid features, overgrowth, cleft palate, and hernia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acromegaloid features, overgrowth, cleft palate, and hernia from the curated CTD Gene-Disease Associations dataset. |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome from the curated CTD Gene-Disease Associations dataset. |
46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS from the curated CTD Gene-Disease Associations dataset. |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease from the curated CTD Gene-Disease Associations dataset. |
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress from the curated CTD Gene-Disease Associations dataset. |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis from the curated CTD Gene-Disease Associations dataset. |
Craniosynostosis, anal anomalies, and porokeratosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Craniosynostosis, anal anomalies, and porokeratosis from the curated CTD Gene-Disease Associations dataset. |
Sacral defect and anterior sacral meningocele Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sacral defect and anterior sacral meningocele from the curated CTD Gene-Disease Associations dataset. |
Classical Lissencephalies and Subcortical Band Heterotopias Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Classical Lissencephalies and Subcortical Band Heterotopias from the curated CTD Gene-Disease Associations dataset. |
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness from the curated CTD Gene-Disease Associations dataset. |
Optic atrophy 1 and deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Optic atrophy 1 and deafness from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, hereditary motor and sensory, Russe type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, Russe type from the curated CTD Gene-Disease Associations dataset. |
Blepharophimosis, Ptosis, and Epicanthus Inversus Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Blepharophimosis, Ptosis, and Epicanthus Inversus from the curated CTD Gene-Disease Associations dataset. |
Hypotrichosis And Recurrent Skin Vesicles Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypotrichosis And Recurrent Skin Vesicles from the curated CTD Gene-Disease Associations dataset. |
Signs and Symptoms, Digestive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Signs and Symptoms, Digestive from the curated CTD Gene-Disease Associations dataset. |
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia from the curated CTD Gene-Disease Associations dataset. |
Methylmalonic Aciduria and Homocystinuria, CblD Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblD Type from the curated CTD Gene-Disease Associations dataset. |
Head and Neck Neoplasms Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Head and Neck Neoplasms from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES from the curated CTD Gene-Disease Associations dataset. |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects from the curated CTD Gene-Disease Associations dataset. |
Cataract, Juvenile, With Microcornea And Glucosuria Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Juvenile, With Microcornea And Glucosuria from the curated CTD Gene-Disease Associations dataset. |
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER from the curated CTD Gene-Disease Associations dataset. |
Venous Malformations, Multiple Cutaneous and Mucosal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Venous Malformations, Multiple Cutaneous and Mucosal from the curated CTD Gene-Disease Associations dataset. |
BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA from the curated CTD Gene-Disease Associations dataset. |
Postoperative Nausea and Vomiting Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Postoperative Nausea and Vomiting from the curated CTD Gene-Disease Associations dataset. |
Myopathy with lactic acidosis and sideroblastic anemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy with lactic acidosis and sideroblastic anemia from the curated CTD Gene-Disease Associations dataset. |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells from the curated CTD Gene-Disease Associations dataset. |
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY from the curated CTD Gene-Disease Associations dataset. |
Keratitis, Ichthyosis, and Deafness (KID) Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Keratitis, Ichthyosis, and Deafness (KID) Syndrome from the curated CTD Gene-Disease Associations dataset. |
Bifid Nose With Or Without Anorectal And Renal Anomalies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bifid Nose With Or Without Anorectal And Renal Anomalies from the curated CTD Gene-Disease Associations dataset. |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Cataracts, Facial Dysmorphism, And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Corneal dystrophy and perceptive deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corneal dystrophy and perceptive deafness from the curated CTD Gene-Disease Associations dataset. |
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY from the curated CTD Gene-Disease Associations dataset. |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Skeletal Dysplasia, and Abducens Palsy from the curated CTD Gene-Disease Associations dataset. |
Hypopituitarism and septooptic 'dysplasia' Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypopituitarism and septooptic 'dysplasia' from the curated CTD Gene-Disease Associations dataset. |
PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL from the curated CTD Gene-Disease Associations dataset. |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps from the curated CTD Gene-Disease Associations dataset. |
Aplasia of Lacrimal and Salivary Glands Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aplasia of Lacrimal and Salivary Glands from the curated CTD Gene-Disease Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA from the curated CTD Gene-Disease Associations dataset. |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities from the curated CTD Gene-Disease Associations dataset. |
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY from the curated CTD Gene-Disease Associations dataset. |
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria from the curated CTD Gene-Disease Associations dataset. |
Calcification of Joints and Arteries Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Calcification of Joints and Arteries from the curated CTD Gene-Disease Associations dataset. |
CHOANAL ATRESIA AND LYMPHEDEMA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CHOANAL ATRESIA AND LYMPHEDEMA from the curated CTD Gene-Disease Associations dataset. |
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis from the curated CTD Gene-Disease Associations dataset. |
Hereditary Motor And Sensory Neuropathy, Type IIC Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy, Type IIC from the curated CTD Gene-Disease Associations dataset. |
Asthma, Nasal Polyps, And Aspirin Intolerance Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Asthma, Nasal Polyps, And Aspirin Intolerance from the curated CTD Gene-Disease Associations dataset. |
Neoplasms, Germ Cell and Embryonal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neoplasms, Germ Cell and Embryonal from the curated CTD Gene-Disease Associations dataset. |
Hereditary Motor And Sensory Neuropathy VI Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy VI from the curated CTD Gene-Disease Associations dataset. |
Cutis Gyrata Syndrome of Beare And Stevenson Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Gyrata Syndrome of Beare And Stevenson from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 from the curated CTD Gene-Disease Associations dataset. |
Wounds and Injuries Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Wounds and Injuries from the curated CTD Gene-Disease Associations dataset. |
Schizophrenia and Disorders with Psychotic Features Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Schizophrenia and Disorders with Psychotic Features from the curated CTD Gene-Disease Associations dataset. |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration from the curated CTD Gene-Disease Associations dataset. |
Sleep Initiation and Maintenance Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sleep Initiation and Maintenance Disorders from the curated CTD Gene-Disease Associations dataset. |
Methylmalonic Aciduria and Homocystinuria, CblF Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblF Type from the curated CTD Gene-Disease Associations dataset. |
Scaphocephaly, Maxillary Retrusion, And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Scaphocephaly, Maxillary Retrusion, And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Cataract and cardiomyopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract and cardiomyopathy from the curated CTD Gene-Disease Associations dataset. |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 from the curated CTD Gene-Disease Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA from the curated CTD Gene-Disease Associations dataset. |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, hereditary motor and sensory, Okinawa type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, Okinawa type from the curated CTD Gene-Disease Associations dataset. |
Spastic Paraplegia, Optic Atrophy, and Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia, Optic Atrophy, and Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Hereditary Breast and Ovarian Cancer Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Breast and Ovarian Cancer Syndrome from the curated CTD Gene-Disease Associations dataset. |
Keratosis palmoplantaris with periodontopathia and onychogryposis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Keratosis palmoplantaris with periodontopathia and onychogryposis from the curated CTD Gene-Disease Associations dataset. |
Intracranial Embolism and Thrombosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Intracranial Embolism and Thrombosis from the curated CTD Gene-Disease Associations dataset. |
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY from the curated CTD Gene-Disease Associations dataset. |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract from the curated CTD Gene-Disease Associations dataset. |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset. |
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma from the curated CTD Gene-Disease Associations dataset. |
Nevi and Melanomas Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nevi and Melanomas from the curated CTD Gene-Disease Associations dataset. |
Attention Deficit and Disruptive Behavior Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Attention Deficit and Disruptive Behavior Disorders from the curated CTD Gene-Disease Associations dataset. |
Cardiomyopathy dilated with Woolly hair and keratoderma Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy dilated with Woolly hair and keratoderma from the curated CTD Gene-Disease Associations dataset. |
Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism from the curated CTD Gene-Disease Associations dataset. |