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Hyperglycinemia, Lactic Acidosis, And Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hyperglycinemia, Lactic Acidosis, And Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease 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. |
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. |
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. |
MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hydrops, Lactic Acidosis, And Sideroblastic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Encephalopathy, Lactic Acidosis And Stroke-Like Episodes (Melas Syndrome) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Encephalopathy, Lactic Acidosis And Stroke-Like Episodes (Melas Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myopathy, lactic acidosis, and sideroblastic anemia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
myopathy, lactic acidosis, and sideroblastic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myopathy, lactic acidosis, and sideroblastic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
myopathy, lactic acidosis, and sideroblastic anemia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myopathy, lactic acidosis, and sideroblastic anemia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lactic aciduria due to D-lactic acid Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lactic aciduria due to D-lactic acid phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myopathy with lactic acidosis, hereditary Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy with lactic acidosis, hereditary phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acidosis, Lactic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acidosis, Lactic from the curated CTD Gene-Disease Associations dataset. |
Myopathy with Lactic Acidosis, Hereditary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy with Lactic Acidosis, Hereditary from the curated CTD Gene-Disease Associations dataset. |
lactic acidosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease lactic acidosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
acidosis, lactic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acidosis, lactic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic lactic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the chronic lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital lactic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe lactic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
stress/infection-induced lactic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the stress/infection-induced lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lactic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Acidosis, Lactic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Acidosis, Lactic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
myopathy with lactic acidosis, hereditary Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy with lactic acidosis, hereditary phenotype from the curated OMIM Gene-Disease Associations dataset. |
Congenital Lactic Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lactic Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary Lactic Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Stress/Infection-Induced Lactic Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Stress/Infection-Induced Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Myopathy With Lactic Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Myopathy With Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acidosis, Lactic Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Acidosis, Lactic in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Chronic Lactic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Chronic Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Lactic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Persistent Lactic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Persistent Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
lactic acidosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the lactic acidosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Lactic acidosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Lactic acidosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital lactic acidosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital lactic acidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lactic acidosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lactic acidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cardiomyopathy-hypotonia-lactic acidosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cardiomyopathy-hypotonia-lactic acidosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial myopathy-lactic acidosis-deafness syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial myopathy-lactic acidosis-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Non-ketotic hyperglycinemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Non-ketotic hyperglycinemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperglycinemia, Nonketotic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperglycinemia, Nonketotic from the curated CTD Gene-Disease Associations dataset. |
hyperglycinemia Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term hyperglycinemia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
hyperglycinemia Gene SetFrom HPO Gene-Disease Associations genes associated with the hyperglycinemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
nonketotic hyperglycinemia Gene SetFrom HPO Gene-Disease Associations genes associated with the nonketotic hyperglycinemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Hyperglycinemia, Nonketotic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Hyperglycinemia, Nonketotic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Hyperglycinemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hyperglycinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonketotic Hyperglycinemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nonketotic Hyperglycinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Childhood-Onset Spasticity With Hyperglycinemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Childhood-Onset Spasticity With Hyperglycinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hyperglycinemia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hyperglycinemia in GWAS and other genetic association datasets from the DisGeNET 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. |
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. |
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. |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
mixed respiratory and metabolic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the mixed respiratory and metabolic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Mixed Respiratory And Metabolic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mixed Respiratory And Metabolic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) Gene Setproteins participating in the Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) pathway from the Reactome Pathways 2024 dataset. |
Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) Gene Setproteins participating in the Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) pathway from the Reactome Pathways 2024 dataset. |
Lactic Acid Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Lactic Acid from the curated CTD Gene-Chemical Interactions dataset. |
D-Lactic Acid Gene Setinteracting proteins for the D-Lactic Acid drug from the curated DrugBank Drug Targets dataset. |
Lactic Acid Gene Setinteracting proteins for the Lactic Acid drug from the curated DrugBank Drug Targets dataset. |
lactic Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term lactic in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
L-lactic acid Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the L-lactic acid ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
D-lactic ​acid Gene SetFrom Guide to Pharmacology Chemical Ligands of Receptors receptors of the D-lactic ​acid ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. |
L-Lactic acid Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the L-Lactic acid metabolite from the curated HMDB Metabolites of Enzymes dataset. |
D-Lactic acid Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the D-Lactic acid metabolite from the curated HMDB Metabolites of Enzymes dataset. |
exercise-induced lactic acidemia Gene SetFrom HPO Gene-Disease Associations genes associated with the exercise-induced lactic acidemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intermittent lactic acidemia Gene SetFrom HPO Gene-Disease Associations genes associated with the intermittent lactic acidemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Exercise-Induced Lactic Acidemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Exercise-Induced Lactic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intermittent Lactic Acidemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intermittent Lactic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lactic Aciduria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lactic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lactic Acidemia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lactic Acidemia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Lactic Aciduria Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lactic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Lactic Acid Measurement Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lactic Acid Measurement in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Lactic acid Gene SetFrom MW Enzyme Metabolite Associations interacting proteins for Lactic acid metabolite from the MW Gene Metabolite Associations dataset. |
D-LACTIC ACID Gene Setinteracting proteins for the D-LACTIC ACID drug from theDGIdb Drug Targets 2026 dataset. |
L-LACTIC ACID Gene Setinteracting proteins for the L-LACTIC ACID drug from theDGIdb Drug Targets 2026 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. |
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. |
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. |
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. |
PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS from the curated CTD Gene-Disease Associations dataset. |
microcephaly, postnatal progressive, with seizures and brain atrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, postnatal progressive, with seizures and brain atrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
?arthrogryposis, mental retardation, and seizures Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?arthrogryposis, mental retardation, and seizures phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, seizures, and developmental delay Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, seizures, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset. |
primary aldosteronism, seizures, and neurologic abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the primary aldosteronism, seizures, and neurologic abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Aldosteronism, Seizures, And Neurologic Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) Gene Setproteins participating in the Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) pathway from the Reactome Pathways 2024 dataset. |
microcephaly, seizures, and developmental delay Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease microcephaly, seizures, and developmental delay from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
microcephaly, seizures, and developmental delay Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease microcephaly, seizures, and developmental delay in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
microcephaly, growth deficiency, seizures, and brain malformations Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease microcephaly, growth deficiency, seizures, and brain malformations in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental delay and seizures with or without movement abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental delay and seizures with or without movement abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease stress-induced childhood-onset neurodegeneration with variable ataxia and seizures in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental delay and seizures Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental delay and seizures phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability and seizures Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability and seizures phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Osteopetrosis with renal tubular acidosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis with renal tubular acidosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, distal, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, distal, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, distal, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, distal, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, distal, with normal red cell morphology Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, distal, with normal red cell morphology phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, distal, with hemolytic anemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, distal, with hemolytic anemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis with progressive nerve deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis with progressive nerve deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acidosis, Renal Tubular Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acidosis, Renal Tubular from the curated CTD Gene-Disease Associations dataset. |
Renal Tubular Acidosis, Distal, With Hemolytic Anemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal Tubular Acidosis, Distal, With Hemolytic Anemia from the curated CTD Gene-Disease Associations dataset. |
Osteopetrosis with renal tubular acidosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Osteopetrosis with renal tubular acidosis from the curated CTD Gene-Disease Associations dataset. |
Renal tubular acidosis, distal, autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal tubular acidosis, distal, autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness from the curated CTD Gene-Disease Associations dataset. |
Acidosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acidosis from the curated CTD Gene-Disease Associations dataset. |
Acidosis, Respiratory Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acidosis, Respiratory from the curated CTD Gene-Disease Associations dataset. |
renal tubular acidosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease renal tubular acidosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
metabolic acidosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease metabolic acidosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial distal renal tubular acidosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial distal renal tubular acidosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acidosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acidosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acidosis Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term acidosis in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
respiratory acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the respiratory acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
proximal renal tubular acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the proximal renal tubular acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hyperkalemic metabolic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the hyperkalemic metabolic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
chronic metabolic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the chronic metabolic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
renal tubular acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the renal tubular acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metabolic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the metabolic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
chronic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the chronic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
generalized distal tubular acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the generalized distal tubular acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
distal renal tubular acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the distal renal tubular acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hyperchloremic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the hyperchloremic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
episodic metabolic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the episodic metabolic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hyperchloremic metabolic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the hyperchloremic metabolic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
bicarbonate-wasting renal tubular acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the bicarbonate-wasting renal tubular acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Acidosis, Renal Tubular Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Acidosis, Renal Tubular phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Acidosis Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Acidosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
renal tubular acidosis Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the renal tubular acidosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
acidosis Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the acidosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
osteopetrosis, autosomal recessive 3, with renal tubular acidosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 3, with renal tubular acidosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
renal tubular acidosis, distal, ar Gene SetFrom OMIM Gene-Disease Associations genes associated with the renal tubular acidosis, distal, ar phenotype from the curated OMIM Gene-Disease Associations dataset. |
renal tubular acidosis, distal, ad Gene SetFrom OMIM Gene-Disease Associations genes associated with the renal tubular acidosis, distal, ad phenotype from the curated OMIM Gene-Disease Associations dataset. |
renal tubular acidosis, distal, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the renal tubular acidosis, distal, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
renal tubular acidosis, proximal, with ocular abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the renal tubular acidosis, proximal, with ocular abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
renal tubular acidosis with deafness Gene SetFrom OMIM Gene-Disease Associations genes associated with the renal tubular acidosis with deafness phenotype from the curated OMIM Gene-Disease Associations dataset. |
Fetal Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fetal Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Distal Renal Tubular Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Distal Renal Tubular Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Renal Tubular Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Renal Tubular Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Compensated Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Compensated Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Transient Neonatal Renal Tubular Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Transient Neonatal Renal Tubular Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Generalized Distal Tubular Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Generalized Distal Tubular Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Metabolic Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Metabolic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metabolic Acidosis, Nag, Acidifying Salts Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metabolic Acidosis, Nag, Acidifying Salts in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hyperkalemic Distal Renal Tubular Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hyperkalemic Distal Renal Tubular Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metabolic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Metabolic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Episodic Metabolic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Episodic Metabolic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Acidosis, Respiratory Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Acidosis, Respiratory in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Renal Tubular Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Renal Tubular Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Distal Renal Tubular Acidosis Co-Occurrent With Sensorineural Deafness Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Distal Renal Tubular Acidosis Co-Occurrent With Sensorineural Deafness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hyperchloremic Metabolic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hyperchloremic Metabolic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hyperkalemic Metabolic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hyperkalemic Metabolic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Chronic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Chronic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Bicarbonate-Wasting Renal Tubular Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Bicarbonate-Wasting Renal Tubular Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
renal tubular acidosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the renal tubular acidosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
respiratory acidosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the respiratory acidosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
metabolic acidosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the metabolic acidosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
acidosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the acidosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Metabolic acidosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Metabolic acidosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Renal tubular acidosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Renal tubular acidosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive distal renal tubular acidosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive distal renal tubular acidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Renal tubular acidosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Renal tubular acidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Distal renal tubular acidosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Distal renal tubular acidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant distal renal tubular acidosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant distal renal tubular acidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive proximal renal tubular acidosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive proximal renal tubular acidosis phenotype from the curated ClinVar Gene-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. |
Benign familial neonatal-infantile seizures Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Benign familial neonatal-infantile seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Febrile seizures, familial, 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Febrile seizures, familial, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Benign familial neonatal seizures 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Benign familial neonatal seizures 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Benign familial neonatal seizures 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Benign familial neonatal seizures 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Febrile seizures, familial, 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Febrile seizures, familial, 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Febrile seizures, familial, 3b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Febrile seizures, familial, 3b 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. |
Familial febrile seizures 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial febrile seizures 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation, with or without seizures, ARX-related Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation, with or without seizures, ARX-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Generalized epilepsy with febrile seizures plus, type 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Generalized epilepsy with febrile seizures plus, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Generalized epilepsy with febrile seizures plus, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Generalized epilepsy with febrile seizures plus, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Generalized epilepsy with febrile seizures plus, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Generalized epilepsy with febrile seizures plus, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 3 phenotype from the curated ClinVar Gene-Phenotype 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. |
SEIZURES, BENIGN FAMILIAL NEONATAL, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SEIZURES, BENIGN FAMILIAL NEONATAL, 2 from the curated CTD Gene-Disease Associations dataset. |
SEIZURES, BENIGN FAMILIAL INFANTILE, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SEIZURES, BENIGN FAMILIAL INFANTILE, 2 from the curated CTD Gene-Disease Associations dataset. |
Seizures, Febrile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Seizures, Febrile from the curated CTD Gene-Disease Associations dataset. |
Alcohol Withdrawal Seizures Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alcohol Withdrawal Seizures from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related 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. |
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SEIZURES, BENIGN FAMILIAL NEONATAL, 1 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. |
Seizures Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Seizures from the curated CTD Gene-Disease Associations 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. |
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. |
benign neonatal seizures Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease benign neonatal seizures in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
disease models, animal; fever; seizures, febrile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease disease models, animal; fever; seizures, febrile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
seizures; thrombosis, deep vein; systemic sclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease seizures; thrombosis, deep vein; systemic sclerosis 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. |
alpha-thalassemia; malaria; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha-thalassemia; malaria; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lupus erythematosus, systemic; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lupus erythematosus, systemic; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcohol withdrawal seizures; alcoholism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcohol withdrawal seizures; alcoholism 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. |
alcohol withdrawal seizures; alcoholism; disease models, animal; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcohol withdrawal seizures; alcoholism; disease models, animal; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fractures, bone; rett syndrome; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fractures, bone; rett syndrome; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
seizures, febrile; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease seizures, febrile; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
rett syndrome; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease rett syndrome; seizures 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. |
angelman syndrome; rett syndrome; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease angelman syndrome; rett syndrome; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; hypoglycemia; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; hypoglycemia; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diffuse cerebral sclerosis of schilder; headache; seizures; [d]pain in head nos Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diffuse cerebral sclerosis of schilder; headache; seizures; [d]pain in head nos 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. |
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, 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. |
delirium tremens, alcohol withdrawal-induced; seizures, alcohol withdrawal-induced Gene SetFrom GAD Gene-Disease Associations genes associated with the disease delirium tremens, alcohol withdrawal-induced; seizures, alcohol withdrawal-induced in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
febrile seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease febrile seizures 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. |
brain injuries; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain injuries; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcohol withdrawal delirium; alcohol withdrawal seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcohol withdrawal delirium; alcohol withdrawal seizures 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. |
alcohol withdrawal seizures; alcoholism; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcohol withdrawal seizures; alcoholism; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
seizures, febrile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease seizures, febrile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
seizures; thrombosis, deep vein Gene SetFrom GAD Gene-Disease Associations genes associated with the disease seizures; thrombosis, deep vein in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apnea; apoplexy; blood coagulation disorders; brain ischemia; cerebrovascular disorders; hypotony, muscle; muscle hypotonia; protein c deficiency; seizures; stroke; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apnea; apoplexy; blood coagulation disorders; brain ischemia; cerebrovascular disorders; hypotony, muscle; muscle hypotonia; protein c deficiency; seizures; stroke; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
seizures Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term seizures in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
focal seizures Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the focal seizures phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
seizures Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the seizures phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
hyperkinetic seizures Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the hyperkinetic seizures phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
focal motor seizures Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the focal motor seizures phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
focal seizures with impairment of consciousness or awareness Gene SetFrom HPO Gene-Disease Associations genes associated with the focal seizures with impairment of consciousness or awareness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
focal seizures without impairment of consciousness or awareness Gene SetFrom HPO Gene-Disease Associations genes associated with the focal seizures without impairment of consciousness or awareness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
generalized tonic seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the generalized tonic seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
photosensitive tonic-clonic seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the photosensitive tonic-clonic seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
atonic seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the atonic seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hemiclonic seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the hemiclonic seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hypocalcemic seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the hypocalcemic seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
focal seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the focal seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
developmental stagnation at onset of seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the developmental stagnation at onset of seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absence seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the absence seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
generalized myoclonic seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the generalized myoclonic seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
focal motor seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the focal motor seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
generalized tonic-clonic seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the generalized tonic-clonic seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
generalized seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the generalized seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations 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. |
dialeptic seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the dialeptic seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
febrile seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the febrile seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
generalized clonic seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the generalized clonic seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
bilateral convulsive seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the bilateral convulsive seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
focal clonic seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the focal clonic seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hypoglycemic seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the hypoglycemic seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Seizures, Febrile Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Seizures, Febrile phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Alcohol Withdrawal Seizures Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Alcohol Withdrawal Seizures phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Seizures Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Seizures phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
clonic seizures Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the clonic seizures phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
seizures Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the seizures phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
minimal clonic seizures Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the minimal clonic seizures phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
environmentally induced seizures Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the environmentally induced seizures phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
tonic-clonic seizures Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the tonic-clonic seizures phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
sporadic seizures Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the sporadic seizures phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
maximal tonic hindlimb extension seizures Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the maximal tonic hindlimb extension seizures phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
audiogenic seizures Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the audiogenic seizures phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
nonconvulsive seizures Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the nonconvulsive seizures phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
absence seizures Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the absence seizures phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
tonic seizures Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the tonic seizures phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
increased susceptibility to pharmacologically induced seizures Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the increased susceptibility to pharmacologically induced seizures phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
convulsive seizures Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the convulsive seizures phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
decreased susceptibility to pharmacologically induced seizures Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased susceptibility to pharmacologically induced seizures phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
polymicrogyria with seizures Gene SetFrom OMIM Gene-Disease Associations genes associated with the polymicrogyria with seizures phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign neonatal, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign neonatal, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 3a Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 3a phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilespy, generalized, with febrile seizures plus, type 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilespy, generalized, with febrile seizures plus, type 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign familial infantile, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign familial infantile, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign familial infantile, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign familial infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign familial infantile, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign familial infantile, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign familial infantile, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign familial infantile, 3 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. |
seizures, benign neonatal, type 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign neonatal, type 2 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, 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. |
febrile seizures, familial, 3b Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 3b phenotype from the curated OMIM Gene-Disease Associations dataset. |
?multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?multiple congenital anomalies-hypotonia-seizures syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
multiple congenital anomalies-hypotonia-seizures syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the multiple congenital anomalies-hypotonia-seizures syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the multiple congenital anomalies-hypotonia-seizures syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Clonic Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Clonic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Complex Partial Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Complex Partial Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Generalized Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Generalized Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Tonic - Clonic Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tonic - Clonic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Generalized Myoclonic Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Generalized Myoclonic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Generalized Clonic Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Generalized Clonic Seizures 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. |
Post Traumatic Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Post Traumatic Seizures 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. |
Salaam Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Salaam Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alcohol Withdrawal Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alcohol Withdrawal Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Focal Seizures, Afebril Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Seizures, Afebril in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Focal Myoclonic Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Myoclonic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Photosensitive Tonic-Clonic Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Photosensitive Tonic-Clonic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypocalcemic Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypocalcemic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Focal Clonic Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Clonic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Focal Tonic Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Tonic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Migrating Partial Seizures In Infancy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Migrating Partial Seizures In Infancy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Generalized Tonic-Clonic Seizures With Focal Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Generalized Tonic-Clonic Seizures With Focal Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Febrile Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Febrile Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Jackknife Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Jackknife Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Simple Partial Occipital Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Simple Partial Occipital Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hemifacial Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hemifacial Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Seizures In The Newborn, Refractory Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Seizures In The Newborn, Refractory in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Uncinate Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Uncinate Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Photomyoclonic Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Photomyoclonic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 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. |
Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Atonic Absence Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Atonic Absence Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Epileptic Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Epileptic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Generalized Absence Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Absence Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Myoclonic Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Myoclonic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Nonepileptic Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Nonepileptic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Seizures, Auditory Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Seizures, Auditory in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Seizures, Focal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Seizures, Focal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Seizures, Intractable Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Seizures, Intractable in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Seizures, Sensory Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Seizures, Sensory in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Seizures, Somatosensory Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Seizures, Somatosensory in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Tonic Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Tonic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Generalized Tonic Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Tonic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Maternal Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Maternal Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Typical Absence Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Typical Absence Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Multifocal Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Multifocal Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Generalized Tonic-Clonic Seizures On Awakening Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Tonic-Clonic Seizures On Awakening in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Segmental Myoclonic Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Segmental Myoclonic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Developmental Stagnation At Onset Of Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Developmental Stagnation At Onset Of Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hemiclonic Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hemiclonic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Nocturnal Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Nocturnal Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Simple Partial Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Simple Partial Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
seizures Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the seizures phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absence seizures Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absence seizures phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
audiogenic seizures Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the audiogenic seizures phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased susceptibility to pharmacologically induced seizures Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased susceptibility to pharmacologically induced seizures phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
tonic seizures Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the tonic seizures phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
convulsive seizures Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the convulsive seizures phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
nonconvulsive seizures Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the nonconvulsive seizures phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
sporadic seizures Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the sporadic seizures phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased susceptibility to pharmacologically induced seizures Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased susceptibility to pharmacologically induced seizures phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
tonic-clonic seizures Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the tonic-clonic seizures phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
maximal tonic hindlimb extension seizures Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the maximal tonic hindlimb extension seizures phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
clonic seizures Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the clonic seizures phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
environmentally induced seizures Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the environmentally induced seizures phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
minimal clonic seizures Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the minimal clonic seizures phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
febrile seizures Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the febrile seizures phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
convulsive seizures Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the convulsive seizures phenotype in mic from the IMPC Knockout Mouse Phenotypes 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. |
Benign neonatal seizures Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Benign neonatal seizures from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Familial febrile seizures Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial febrile seizures 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. |
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. |
Benign familial infantile seizures 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Benign familial infantile seizures 3 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 neonatal seizures Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Benign neonatal seizures in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial febrile seizures 11 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial febrile seizures 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multiple congenital anomalies-hypotonia-seizures syndrome 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multiple congenital anomalies-hypotonia-seizures syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multiple congenital anomalies-hypotonia-seizures syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multiple congenital anomalies-hypotonia-seizures syndrome 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multiple congenital anomalies-hypotonia-seizures syndrome 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial febrile seizures 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial febrile seizures 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Benign familial infantile seizures 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Benign familial infantile seizures 2 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. |
Benign familial infantile seizures 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Benign familial infantile seizures 5 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. |
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. |
Familial febrile seizures 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial febrile seizures 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial febrile seizures 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial febrile seizures 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial febrile seizures 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial febrile seizures 5 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. |
Familial febrile seizures 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial febrile seizures 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial febrile seizures 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial febrile seizures 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial febrile seizures 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial febrile seizures 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial febrile seizures 10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial febrile seizures 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Seizures-scoliosis-macrocephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Seizures-scoliosis-macrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Febrile seizures Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Febrile seizures phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pyridoxal phosphate-responsive seizures Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyridoxal phosphate-responsive seizures phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Seizures Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Seizures phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Benign neonatal seizures Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Benign neonatal seizures phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
GNAO1-related developmental delay-seizures-movement disorder spectrum Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the GNAO1-related developmental delay-seizures-movement disorder spectrum phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Malignant migrating partial seizures of infancy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Malignant migrating partial seizures of infancy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Febrile seizures Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Febrile seizures phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Febrile seizures (MMR vaccine-unrelated) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Febrile seizures (MMR vaccine-unrelated) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Febrile seizures (MMR vaccine-related) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Febrile seizures (MMR vaccine-related) 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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
Optic atrophy and cataract, autosomal dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Optic atrophy and cataract, autosomal dominant from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 from the curated CTD Gene-Disease Associations dataset. |
Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypermanganesemia with Dystonia Polycythemia and Cirrhosis from the curated CTD Gene-Disease Associations dataset. |
Juvenile macular degeneration and hypotrichosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Juvenile macular degeneration and hypotrichosis from the curated CTD Gene-Disease Associations dataset. |
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS from the curated CTD Gene-Disease Associations dataset. |
Mullerian Aplasia and Hyperandrogenism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mullerian Aplasia and Hyperandrogenism from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset. |
Esophageal and Gastric Varices Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Esophageal and Gastric Varices from the curated CTD Gene-Disease Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC from the curated CTD Gene-Disease Associations dataset. |
Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked from the curated CTD Gene-Disease Associations dataset. |
Carcinoma, squamous cell of head and neck Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carcinoma, squamous cell of head and neck from the curated CTD Gene-Disease Associations dataset. |
Polycythemia, primary familial and congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycythemia, primary familial and congenital from the curated CTD Gene-Disease Associations dataset. |
Extravasation of Diagnostic and Therapeutic Materials Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Extravasation of Diagnostic and Therapeutic Materials from the curated CTD Gene-Disease Associations dataset. |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis from the curated CTD Gene-Disease Associations dataset. |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
Knuckle pads, leuconychia and sensorineural deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Knuckle pads, leuconychia and sensorineural deafness from the curated CTD Gene-Disease Associations dataset. |
Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 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. |
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails from the curated CTD Gene-Disease Associations dataset. |
Iris hypoplasia and glaucoma Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Iris hypoplasia and glaucoma from the curated CTD Gene-Disease Associations dataset. |
NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset. |
Sarcoma family syndrome of Li and Fraumeni Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sarcoma family syndrome of Li and Fraumeni from the curated CTD Gene-Disease Associations dataset. |
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nephropathy with Pretibial Epidermolysis Bullosa and Deafness from the curated CTD Gene-Disease Associations dataset. |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome from the curated CTD Gene-Disease Associations dataset. |
Lipoid Proteinosis of Urbach and Wiethe Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipoid Proteinosis of Urbach and Wiethe from the curated CTD Gene-Disease Associations dataset. |
Hypertelorism with esophageal abnormality and hypospadias Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypertelorism with esophageal abnormality and hypospadias from the curated CTD Gene-Disease Associations dataset. |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis from the curated CTD Gene-Disease Associations dataset. |
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 from the curated CTD Gene-Disease Associations dataset. |
Bone Fragility with Contractures, Arterial Rupture, and Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bone Fragility with Contractures, Arterial Rupture, and Deafness from the curated CTD Gene-Disease Associations dataset. |
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis from the curated CTD Gene-Disease Associations dataset. |
Jervell And Lange-Nielsen Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Jervell And Lange-Nielsen Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
Neoplasms, Glandular and Epithelial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neoplasms, Glandular and Epithelial from the curated CTD Gene-Disease Associations dataset. |
Ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal dysplasia, ectrodactyly, and macular dystrophy from the curated CTD Gene-Disease Associations dataset. |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alopecia, Neurologic Defects, and Endocrinopathy Syndrome from the curated CTD Gene-Disease Associations dataset. |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness from the curated CTD Gene-Disease Associations dataset. |
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Early-onset ataxia with oculomotor apraxia and hypoalbuminemia from the curated CTD Gene-Disease Associations dataset. |
Pyogenic arthritis, pyoderma gangrenosum, and acne Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyogenic arthritis, pyoderma gangrenosum, and acne from the curated CTD Gene-Disease Associations dataset. |
Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysa bullosa simplex and limb girdle muscular dystrophy from the curated CTD Gene-Disease Associations dataset. |
Cleft Palate, Isolated, And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cleft Palate, Isolated, And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Absent radii and thrombocytopenia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Absent radii and thrombocytopenia from the curated CTD Gene-Disease Associations dataset. |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset. |
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS from the curated CTD Gene-Disease Associations dataset. |
Microcephaly with Mental Retardation and Digital Anomalies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly with Mental Retardation and Digital Anomalies from the curated CTD Gene-Disease Associations dataset. |
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies from the curated CTD Gene-Disease Associations dataset. |
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease STAPES ANKYLOSIS WITH BROAD THUMB AND TOES from the curated CTD Gene-Disease Associations dataset. |
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities from the curated CTD Gene-Disease Associations dataset. |
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. |
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance from the curated CTD Gene-Disease Associations dataset. |
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity from the curated CTD Gene-Disease Associations dataset. |
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset. |
Signs and Symptoms, Respiratory Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Signs and Symptoms, Respiratory from the curated CTD Gene-Disease Associations dataset. |
Renal cysts and diabetes syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal cysts and diabetes syndrome from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, hereditary motor and sensory, LOM type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, LOM type from the curated CTD Gene-Disease Associations dataset. |
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor from the curated CTD Gene-Disease Associations dataset. |
Hereditary Angioedema Types I and II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Angioedema Types I and II from the curated CTD Gene-Disease Associations dataset. |
Drug-Related Side Effects and Adverse Reactions Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Drug-Related Side Effects and Adverse Reactions from the curated CTD Gene-Disease Associations dataset. |
Insect Bites and Stings Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Insect Bites and Stings from the curated CTD Gene-Disease Associations dataset. |
T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease T-cell immunodeficiency, congenital alopecia and nail dystrophy from the curated CTD Gene-Disease Associations dataset. |
Foveal Hypoplasia and Anterior Segment Dysgenesis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Foveal Hypoplasia and Anterior Segment Dysgenesis from the curated CTD Gene-Disease Associations dataset. |
Cubitus Valgus with Mental Retardation and Unusual Facies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cubitus Valgus with Mental Retardation and Unusual Facies from the curated CTD Gene-Disease Associations dataset. |
Ophthalmoplegia, External, and Myopia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ophthalmoplegia, External, and Myopia from the curated CTD Gene-Disease Associations dataset. |
Deafness, Sensorineural, And Male Infertility Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Sensorineural, And Male Infertility from the curated CTD Gene-Disease Associations dataset. |
Hereditary Sensory and Autonomic Neuropathies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Sensory and Autonomic Neuropathies from the curated CTD Gene-Disease Associations dataset. |
Histiocytosis with joint contractures and sensorineural deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Histiocytosis with joint contractures and sensorineural deafness 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. |
Leiomyomatosis, esophageal and vulval, with nephropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leiomyomatosis, esophageal and vulval, with nephropathy from the curated CTD Gene-Disease Associations dataset. |
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Growth Retardation, Developmental Delay, Coarse Facies, And Early Death from the curated CTD Gene-Disease Associations dataset. |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis from the curated CTD Gene-Disease Associations dataset. |
Embolism and Thrombosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Embolism and Thrombosis from the curated CTD Gene-Disease Associations dataset. |
Religion and Psychology Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Religion and Psychology in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Attention Deficit and Disruptive Behavior Disorders Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Attention Deficit and Disruptive Behavior Disorders in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Body Weights and Measures Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Body Weights and Measures in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Nevi and Melanomas Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Nevi and Melanomas in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Head and Neck Neoplasms Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Head and Neck Neoplasms in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
blepharophimosis, ptosis, and epicanthus inversus syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease blepharophimosis, ptosis, and epicanthus inversus syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
degeneration of macula and posterior pole Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease degeneration of macula and posterior pole from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
eye and adnexa disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease eye and adnexa disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
combined t cell and b cell immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease combined t cell and b cell immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
eye and adnexa disease Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease eye and adnexa disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
inflammatory and toxic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease inflammatory and toxic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mucinous tubular and spindle renal cell carcinoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mucinous tubular and spindle renal cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
pustulosis of palm and sole Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pustulosis of palm and sole in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hand, foot and mouth disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hand, foot and mouth disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
tooth and nail syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease tooth and nail syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
extrapyramidal and movement disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease extrapyramidal and movement disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mononeuritis of upper limb and mononeuritis multiplex Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mononeuritis of upper limb and mononeuritis multiplex in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
lung mixed small cell and squamous cell carcinoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease lung mixed small cell and squamous cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
autoimmune disease of skin and connective tissue Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease autoimmune disease of skin and connective tissue in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
histiocytic and dendritic cell cancer Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease histiocytic and dendritic cell cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
methylmalonic aciduria and homocystinuria type cblc Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease methylmalonic aciduria and homocystinuria type cblc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
blepharophimosis, ptosis, and epicanthus inversus syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease blepharophimosis, ptosis, and epicanthus inversus syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
germ cell and embryonal cancer Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease germ cell and embryonal cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mixed endometrial stromal and smooth muscle tumor Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mixed endometrial stromal and smooth muscle tumor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
spinal canal and spinal cord meningioma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease spinal canal and spinal cord meningioma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ovarian germ cell monodermal and highly specialized teratoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ovarian germ cell monodermal and highly specialized teratoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
degeneration of macula and posterior pole Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease degeneration of macula and posterior pole in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
combined t cell and b cell immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease combined t cell and b cell immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mature t-cell and nk-cell lymphoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mature t-cell and nk-cell lymphoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
eye and adnexa disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease eye and adnexa disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
breast and lung cancer Gene SetFrom GAD Gene-Disease Associations genes associated with the disease breast and lung cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
increased chromosome aberrations and higher lung cancer risk Gene SetFrom GAD Gene-Disease Associations genes associated with the disease increased chromosome aberrations and higher lung cancer risk in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyper-ige syndrome and severe eczema. atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-ige syndrome and severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
factor viii and factor ix genes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease factor viii and factor ix genes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
flecainide and paroxetine Gene SetFrom GAD Gene-Disease Associations genes associated with the disease flecainide and paroxetine in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pre-term delivery infant mortality and malaria morbidity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pre-term delivery infant mortality and malaria morbidity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alopecia and lumbar herniated disk Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alopecia and lumbar herniated disk in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
baroreflex and blood pressure regulation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease baroreflex and blood pressure regulation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neuropathy, hereditary motor and sensory Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neuropathy, hereditary motor and sensory in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
psoriasis, psoriatic arthritis, and sapho syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease psoriasis, psoriatic arthritis, and sapho syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
platelet reactivity and clopidogrel resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease platelet reactivity and clopidogrel resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome abnormality; neoplasms, germ cell and embryonal; neoplasms, testis; testicular neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; neoplasms, germ cell and embryonal; neoplasms, testis; testicular neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
low mpa exposure and acute rejection in mmf/tacrolimus-treated kidney transplant patients Gene SetFrom GAD Gene-Disease Associations genes associated with the disease low mpa exposure and acute rejection in mmf/tacrolimus-treated kidney transplant patients in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
jervell and lange-nielsen syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease jervell and lange-nielsen syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anovulation and fecundity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anovulation and fecundity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
proteinuria and cardiovascular disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease proteinuria and cardiovascular disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
thyroid and neurological abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease thyroid and neurological abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
homocysteine, folate and vitamin b12 levels Gene SetFrom GAD Gene-Disease Associations genes associated with the disease homocysteine, folate and vitamin b12 levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypertension and obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypertension and obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
child hyperactivity-impulsivity and oppositional behaviors Gene SetFrom GAD Gene-Disease Associations genes associated with the disease child hyperactivity-impulsivity and oppositional behaviors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
head and neck squamous cell carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease head and neck squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
asthma and atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease asthma and atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hiv-rna and cellular hiv-dna levels Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hiv-rna and cellular hiv-dna levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin release and insulin sensitivity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin release and insulin sensitivity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hip bone loss and fracture Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hip bone loss and fracture in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
risperidone and perospirone Gene SetFrom GAD Gene-Disease Associations genes associated with the disease risperidone and perospirone in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infectious risk and outcome in surgical intensive care patients Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infectious risk and outcome in surgical intensive care patients in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip and palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip and palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
reduced muscle mrna levels and insulin resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease reduced muscle mrna levels and insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemostatic factors and hematological phenotypes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemostatic factors and hematological phenotypes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
reduced gene expression and lower plasma levels of beta2-glycoprotein i Gene SetFrom GAD Gene-Disease Associations genes associated with the disease reduced gene expression and lower plasma levels of beta2-glycoprotein i in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
menarche and menopause (age at onset) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menarche and menopause (age at onset) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple organ failure; sepsis; shock, septic; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple organ failure; sepsis; shock, septic; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |