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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. |
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. |
hypermanganesemia with dystonia, polycythemia, and cirrhosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypermanganesemia with dystonia, polycythemia, and cirrhosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
Hypermanganesemia with dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hypermanganesemia with dystonia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hypermanganesemia with dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypermanganesemia with dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypermanganesemia with dystonia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypermanganesemia with dystonia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypermanganesemia with dystonia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypermanganesemia with dystonia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
polycythemia; polycythemia vera Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycythemia; polycythemia vera in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myeloproliferative disorders; polycythemia; polycythemia vera; thrombocythemia, essential; thrombocytosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myeloproliferative disorders; polycythemia; polycythemia vera; thrombocythemia, essential; thrombocytosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycythemia vera(c15.378.190.636.753)/enzymology; polycythemia(c15.378.738)/enzymology Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycythemia vera(c15.378.190.636.753)/enzymology; polycythemia(c15.378.738)/enzymology in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune diseases; biliary cirrhosis; liver cirrhosis, biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune diseases; biliary cirrhosis; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary cirrhosis; cholangitis, sclerosing; cystic fibrosis; inflammatory bowel disease, nos; inflammatory bowel diseases; liver cirrhosis, biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary cirrhosis; cholangitis, sclerosing; cystic fibrosis; inflammatory bowel disease, nos; inflammatory bowel diseases; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis c; liver cirrhosis; liver cirrhosis, alcoholic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis c; liver cirrhosis; liver cirrhosis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary cirrhosis; liver cirrhosis, biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary cirrhosis; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; hepatitis b; hepatitis c; lcc - liver cell carcinoma; liver cirrhosis; liver cirrhosis, alcoholic; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; hepatitis b; hepatitis c; lcc - liver cell carcinoma; liver cirrhosis; liver cirrhosis, alcoholic; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary cirrhosis; liver cirrhosis, biliary; osteoporosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary cirrhosis; liver cirrhosis, biliary; osteoporosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cholangitis, sclerosing; fatty liver; hepatitis b, chronic; hepatitis c, chronic; hepatitis, autoimmune; hepatitis, chronic; liver cirrhosis, alcoholic; liver cirrhosis, biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cholangitis, sclerosing; fatty liver; hepatitis b, chronic; hepatitis c, chronic; hepatitis, autoimmune; hepatitis, chronic; liver cirrhosis, alcoholic; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis b, chronic; hepatitis c, chronic; liver cirrhosis; liver cirrhosis, alcoholic; liver failure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis b, chronic; hepatitis c, chronic; liver cirrhosis; liver cirrhosis, alcoholic; liver failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcoholism; liver cirrhosis; liver cirrhosis, alcoholic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcoholism; liver cirrhosis; liver cirrhosis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
biliary cirrhosis; hepatitis, autoimmune; liver cirrhosis, biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease biliary cirrhosis; hepatitis, autoimmune; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Hypermanganesemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypermanganesemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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. |
esophageal and gastric varices; gastrointestinal hemorrhage; liver cirrhosis; postoperative complications; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease esophageal and gastric varices; gastrointestinal hemorrhage; liver cirrhosis; postoperative complications; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
liver disease, chronic and cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease liver disease, chronic and cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, alcoholic; esophageal cancer; head and neck cancer; liver cancer; pancreatitis, alcoholic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, alcoholic; esophageal cancer; head and neck cancer; liver cancer; pancreatitis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Hepatic Fibrosis And Cirrhosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Fibrosis And Cirrhosis in GWAS and other genetic association datasets from the DisGeNET 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. |
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. |
deafness, dystonia, and cerebral hypomyelination Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, dystonia, and cerebral hypomyelination phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukoencephalopathy with dystonia and motor neuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukoencephalopathy with dystonia and motor neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
Leber Optic Atrophy And Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Leber Optic Atrophy And Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Leber hereditary optic neuropathy and dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Leber hereditary optic neuropathy and dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease childhood-onset dystonia with optic atrophy and basal ganglia abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
deafness, dystonia, and cerebral hypomyelination Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease deafness, dystonia, and cerebral hypomyelination in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neurodegenerative illness progressing to crippling dystonia and death Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neurodegenerative illness progressing to crippling dystonia and death phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Polycythemia Vera Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycythemia Vera from the curated CTD Gene-Disease Associations dataset. |
Polycythemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycythemia from the curated CTD Gene-Disease Associations dataset. |
polycythemia vera Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease polycythemia vera from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
primary polycythemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease primary polycythemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
polycythemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease polycythemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
polycythemia vera Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease polycythemia vera in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
primary polycythemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease primary polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
acquired polycythemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease acquired polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
stress polycythemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease stress polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
polycythemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
lymphoma; myeloproliferative disorders; polycythemia vera; thrombocythemia, essential Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lymphoma; myeloproliferative disorders; polycythemia vera; thrombocythemia, essential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycythemia vera; thrombocythemia, essential; thrombocythemia, hemorrhagic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycythemia vera; thrombocythemia, essential; thrombocythemia, hemorrhagic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myeloproliferative disorders; polycythemia vera; thrombocythemia, essential; thrombocythemia, hemorrhagic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myeloproliferative disorders; polycythemia vera; thrombocythemia, essential; thrombocythemia, hemorrhagic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neovascularization, pathologic; polycythemia vera; thrombocythemia, essential; thrombocythemia, hemorrhagic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neovascularization, pathologic; polycythemia vera; thrombocythemia, essential; thrombocythemia, hemorrhagic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycythemia vera; thrombocythemia, essential; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycythemia vera; thrombocythemia, essential; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myeloproliferative disorders; philadelphia chromosome; polycythemia vera; primary myelofibrosis; thrombocythemia, essential; thrombocythemia, hemorrhagic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myeloproliferative disorders; philadelphia chromosome; polycythemia vera; primary myelofibrosis; thrombocythemia, essential; thrombocythemia, hemorrhagic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chuvash-type congenital polycythemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chuvash-type congenital polycythemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycythemia vera; thrombocythemia, hemorrhagic; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycythemia vera; thrombocythemia, hemorrhagic; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial mediterranean fever; leukemia, myelogenous, chronic, bcr-abl positive; leukemia, myeloid; leukemia, myeloid, acute; myelodysplastic syndromes; myeloid leukemia; polycythemia vera; preleukemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial mediterranean fever; leukemia, myelogenous, chronic, bcr-abl positive; leukemia, myeloid; leukemia, myeloid, acute; myelodysplastic syndromes; myeloid leukemia; polycythemia vera; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myeloproliferative disorders; polycythemia vera; primary myelofibrosis; thrombocythemia, essential Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myeloproliferative disorders; polycythemia vera; primary myelofibrosis; thrombocythemia, essential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypertension, pulmonary; polycythemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypertension, pulmonary; polycythemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycythemia vera; primary myelofibrosis; thrombocythemia, essential Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycythemia vera; primary myelofibrosis; thrombocythemia, essential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hematologic neoplasms; polycythemia vera; thrombocythemia, essential Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hematologic neoplasms; polycythemia vera; thrombocythemia, essential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypertension; polycythemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypertension; polycythemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycythemia vera Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycythemia vera in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
activated protein c resistance; cardiovascular diseases; polycythemia vera; recurrence; thrombocythemia, hemorrhagic; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; cardiovascular diseases; polycythemia vera; recurrence; thrombocythemia, hemorrhagic; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blast crisis; blast phase; polycythemia vera; primary myelofibrosis; thrombocythemia, essential; thrombocythemia, hemorrhagic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blast crisis; blast phase; polycythemia vera; primary myelofibrosis; thrombocythemia, essential; thrombocythemia, hemorrhagic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycythemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycythemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycythemia vera; thrombocythemia, essential Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycythemia vera; thrombocythemia, essential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myeloproliferative disorders; polycythemia vera Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myeloproliferative disorders; polycythemia vera in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
genetic diseases, inborn; polycythemia vera; thrombocythemia, essential Gene SetFrom GAD Gene-Disease Associations genes associated with the disease genetic diseases, inborn; polycythemia vera; thrombocythemia, essential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycythemia vera; primary myelofibrosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycythemia vera; primary myelofibrosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
leukemia, myelogenous, chronic, bcr-abl positive; myelodysplastic syndromes; myeloproliferative disorders; polycythemia vera; precursor cell lymphoblastic leukemia-lymphoma; thrombocythemia, essential Gene SetFrom GAD Gene-Disease Associations genes associated with the disease leukemia, myelogenous, chronic, bcr-abl positive; myelodysplastic syndromes; myeloproliferative disorders; polycythemia vera; precursor cell lymphoblastic leukemia-lymphoma; thrombocythemia, essential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cell transformation, neoplastic; leucocytosis; leukemia; leukocytosis; polycythemia vera; primary myelofibrosis; vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cell transformation, neoplastic; leucocytosis; leukemia; leukocytosis; polycythemia vera; primary myelofibrosis; vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; polycythemia vera Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; polycythemia vera in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemochromatosis; polycythemia vera Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemochromatosis; polycythemia vera in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myeloproliferative disorders; polycythemia vera; thrombocythemia, essential Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myeloproliferative disorders; polycythemia vera; thrombocythemia, essential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital polycythemia. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital polycythemia. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycythemia Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term polycythemia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
polycythemia vera Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease polycythemia vera in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
polycythemia Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease polycythemia in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
polycythemia Gene SetFrom HPO Gene-Disease Associations genes associated with the polycythemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Polycythemia Vera Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Polycythemia Vera phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Polycythemia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Polycythemia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
polycythemia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the polycythemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
polycythemia vera Gene SetFrom OMIM Gene-Disease Associations genes associated with the polycythemia vera phenotype from the curated OMIM Gene-Disease Associations dataset. |
Polycythemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycythemia Vera Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Vera in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Secondary Polycythemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Secondary Polycythemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Polycythemia Vera Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Polycythemia Vera in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycythemia Due To Erythropoietin Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Erythropoietin in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycythemia Due To Excess Erythopoetin Production Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Excess Erythopoetin Production in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycythemia Due To Fall In Plasma Volume Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Fall In Plasma Volume in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycythemia Due To High Altitude Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To High Altitude in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycythemia Due To Stress Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Stress in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Stress Polycythemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Stress Polycythemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
polycythemia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the polycythemia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Primary polycythemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Primary polycythemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Polycythemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Polycythemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Polycythemia vera Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Polycythemia vera from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Primary polycythemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Polycythemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Polycythemia vera Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Polycythemia vera in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Physiological polycythemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Physiological polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Acquired polycythemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Acquired polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Stress polycythemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Stress polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Chuvash polycythemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Chuvash polycythemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary familial polycythemia due to EPO receptor mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary familial polycythemia due to EPO receptor mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Acquired polycythemia vera Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Acquired polycythemia vera phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Polycythemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Polycythemia 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. |
North american indian childhood cirrhosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the North american indian childhood cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Biliary Cirrhosis, Primary, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Biliary Cirrhosis, Primary, 2 from the curated CTD Gene-Disease Associations dataset. |
Liver Cirrhosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Liver Cirrhosis from the curated CTD Gene-Disease Associations dataset. |
North American Indian Childhood Cirrhosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease North American Indian Childhood Cirrhosis from the curated CTD Gene-Disease Associations dataset. |
Liver Cirrhosis, Alcoholic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Liver Cirrhosis, Alcoholic from the curated CTD Gene-Disease Associations dataset. |
Liver Cirrhosis, Experimental Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Liver Cirrhosis, Experimental from the curated CTD Gene-Disease Associations dataset. |
Liver Cirrhosis, Biliary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Liver Cirrhosis, Biliary from the curated CTD Gene-Disease Associations dataset. |
Cirrhosis, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cirrhosis, Familial from the curated CTD Gene-Disease Associations dataset. |
Biliary Cirrhosis, Primary, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Biliary Cirrhosis, Primary, 3 from the curated CTD Gene-Disease Associations dataset. |
Liver Cirrhosis, Biliary Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Liver Cirrhosis, Biliary in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
primary biliary cirrhosis Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease primary biliary cirrhosis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
liver cirrhosis Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease liver cirrhosis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
primary biliary cirrhosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease primary biliary cirrhosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
alcoholic liver cirrhosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease alcoholic liver cirrhosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
liver cirrhosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease liver cirrhosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
carcinoma, hepatocellular; hepatitis c; iron overload; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; hepatitis c; iron overload; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis; pancreatitis; esophageal cancer Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis; pancreatitis; esophageal cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
primary biliary cirrhosis] Gene SetFrom GAD Gene-Disease Associations genes associated with the disease primary biliary cirrhosis] in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
helicobacter infections; liver cirrhosis; peptic ulcer Gene SetFrom GAD Gene-Disease Associations genes associated with the disease helicobacter infections; liver cirrhosis; peptic ulcer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ascites; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ascites; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemochromatosis; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemochromatosis; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, primary biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, primary biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
liver cirrhosis, alcoholic; pancreatitis, alcoholic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease liver cirrhosis, alcoholic; pancreatitis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis b; hepatitis b, chronic; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis b; hepatitis b, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, biliary primary; liver disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, biliary primary; liver disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
primary biliary cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease primary biliary cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; fatty liver; liver cirrhosis; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; fatty liver; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, alcoholic; hepatitis c Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, alcoholic; hepatitis c in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatopulmonary syndrome; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatopulmonary syndrome; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, biliary primary; cholangitis, sclerosing Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, biliary primary; cholangitis, sclerosing in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; hepatitis c, chronic; lcc - liver cell carcinoma; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; hepatitis c, chronic; lcc - liver cell carcinoma; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune diseases; liver cirrhosis, biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune diseases; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis c; hiv infections; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis c; hiv infections; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; hepatitis b, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver failure; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; hepatitis b, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver failure; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcoholic liver diseases; alcoholism; liver cirrhosis, alcoholic; liver diseases, alcoholic; pancreatitis, alcoholic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcoholic liver diseases; alcoholism; liver cirrhosis, alcoholic; liver diseases, alcoholic; pancreatitis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
liver cirrhosis, biliary; pruritus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease liver cirrhosis, biliary; pruritus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatty liver; hepatitis c, chronic; hyperhomocysteinemia; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatty liver; hepatitis c, chronic; hyperhomocysteinemia; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; hepatitis c, chronic; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; hepatitis c, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatty liver; hemochromatosis; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatty liver; hemochromatosis; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperhomocysteinemia; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperhomocysteinemia; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; liver cirrhosis, biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; hepatitis b; liver cirrhosis; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; hepatitis b; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms; siderosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms; siderosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthralgia; carcinoma, hepatocellular; hemochromatosis; hepatitis c, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthralgia; carcinoma, hepatocellular; hemochromatosis; hepatitis c, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; hepatitis b, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; hepatitis b, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; hepatitis c; iron overload; lcc - liver cell carcinoma; liver cirrhosis, alcoholic; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; hepatitis c; iron overload; lcc - liver cell carcinoma; liver cirrhosis, alcoholic; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcoholic liver diseases; fatty liver; iron overload; liver cirrhosis; liver diseases, alcoholic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcoholic liver diseases; fatty liver; iron overload; liver cirrhosis; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cystic fibrosis; hypertension, portal; liver cirrhosis; liver diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cystic fibrosis; hypertension, portal; liver cirrhosis; liver diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatty liver; iron overload; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatty liver; iron overload; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis; liver cancer; hepatitis c, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis; liver cancer; hepatitis c, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; hepatitis b, chronic; liver carcinoma; liver cirrhosis; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; hepatitis b, chronic; liver carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cholesterol; triglycerides; cirrhosis, alcoholic; lipids Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cholesterol; triglycerides; cirrhosis, alcoholic; lipids in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcohol-induced disorders; esophageal neoplasms; liver cirrhosis, alcoholic; oesophageal neoplasm; pancreatitis, alcoholic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcohol-induced disorders; esophageal neoplasms; liver cirrhosis, alcoholic; oesophageal neoplasm; pancreatitis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis, alcoholic; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis, alcoholic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; hepatitis c; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; hepatitis c; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis b, chronic; hepatitis c, chronic; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis b, chronic; hepatitis c, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcoholism; cirrhosis; esophageal cancer; pancreatitis, acute Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcoholism; cirrhosis; esophageal cancer; pancreatitis, acute in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atherosclerosis, coronary; cirrhosis, alcoholic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atherosclerosis, coronary; cirrhosis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; liver cirrhosis, alcoholic; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; liver cirrhosis, alcoholic; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, biliary primary; hepatitis type 1, autoimmune (aih-1) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, biliary primary; hepatitis type 1, autoimmune (aih-1) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcoholism; liver cirrhosis, alcoholic; pancreatitis, alcoholic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcoholism; liver cirrhosis, alcoholic; pancreatitis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcoholism; bone necrosis; liver cirrhosis; osteonecrosis; pancreatitis, alcoholic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcoholism; bone necrosis; liver cirrhosis; osteonecrosis; pancreatitis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis c, chronic; liver cirrhosis; liver failure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis c, chronic; liver cirrhosis; liver failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, alcoholic; liver cancer Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, alcoholic; liver cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis; hepatocellular carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis; hepatocellular carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis b, chronic; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis b, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatic encephalopathy; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatic encephalopathy; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis b; cirrhosis; liver cancer Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis b; cirrhosis; liver cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypertriglyceridemia; liver cirrhosis, alcoholic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypertriglyceridemia; liver cirrhosis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcoholism; liver cirrhosis, alcoholic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcoholism; liver cirrhosis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; diabetes mellitus; heart failure; hemochromatosis; lcc - liver cell carcinoma; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; diabetes mellitus; heart failure; hemochromatosis; lcc - liver cell carcinoma; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
liver cirrhosis, biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis; liver cancer Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis; liver cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
liver cirrhosis, alcoholic; pancreatitis, alcoholic; pancreatitis, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease liver cirrhosis, alcoholic; pancreatitis, alcoholic; pancreatitis, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatty liver; liver cirrhosis; obesity, morbid Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatty liver; liver cirrhosis; obesity, morbid in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis c; liver cirrhosis; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis c; liver cirrhosis; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemochromatosis; hepatitis c, chronic; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemochromatosis; hepatitis c, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bacterial infections; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bacterial infections; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; fibrosis; lcc - liver cell carcinoma; liver cirrhosis, alcoholic; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; fibrosis; lcc - liver cell carcinoma; liver cirrhosis, alcoholic; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, alcoholic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis b; hepatitis, chronic; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis b; hepatitis, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; liver cirrhosis; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcoholism; cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcoholism; cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatty liver; hepatitis c, chronic; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatty liver; hepatitis c, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis; pancreatitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis; pancreatitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis c; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis c; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cholangitis, sclerosing; inflammatory bowel disease, nos; inflammatory bowel diseases; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cholangitis, sclerosing; inflammatory bowel disease, nos; inflammatory bowel diseases; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis c; liver cirrhosis; recurrence; weight gain Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis c; liver cirrhosis; recurrence; weight gain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; hepatitis c, chronic; liver cirrhosis; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; hepatitis c, chronic; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; liver carcinoma; liver cirrhosis; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; liver carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
avitaminosis; carcinoma, hepatocellular; fatty liver; hepatitis, chronic; hyperhomocysteinemia; lcc - liver cell carcinoma; liver cirrhosis; liver diseases; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease avitaminosis; carcinoma, hepatocellular; fatty liver; hepatitis, chronic; hyperhomocysteinemia; lcc - liver cell carcinoma; liver cirrhosis; liver diseases; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis; hepatocellular carcinoma; hepatitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis; hepatocellular carcinoma; hepatitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, alcoholic; liver disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, alcoholic; liver disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
liver cirrhosis; schistosomiasis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease liver cirrhosis; schistosomiasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; liver cirrhosis; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; liver cirrhosis; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; hepatitis, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; hepatitis, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis c, chronic; liver cirrhosis; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis c, chronic; liver cirrhosis; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
osteoporosis; cirrhosis, primary biliary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease osteoporosis; cirrhosis, primary biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; hepatitis b, chronic; hepatitis c, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; hepatitis b, chronic; hepatitis c, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemochromatosis; hepatitis c, chronic; iron overload; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemochromatosis; hepatitis c, chronic; iron overload; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatty liver; insulin resistance; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatty liver; insulin resistance; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis c, chronic; liver cirrhosis; liver diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis c, chronic; liver cirrhosis; liver diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, biliary primary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, biliary primary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
liver cirrhosis; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease liver cirrhosis; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bacterial infections; liver cirrhosis; peritonitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bacterial infections; liver cirrhosis; peritonitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; hepatitis b, chronic; hepatitis c, chronic; liver carcinoma; liver cirrhosis; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; hepatitis b, chronic; hepatitis c, chronic; liver carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, biliary primary; hepatitis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, biliary primary; hepatitis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypertension, portal; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypertension, portal; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
disease models, animal; hemochromatosis; iron overload; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease disease models, animal; hemochromatosis; iron overload; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis, autoimmune; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis, autoimmune; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypertension; cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypertension; cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
liver cirrhosis; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, alcoholic; alcoholism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, alcoholic; alcoholism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; hepatitis b; hepatitis c; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; hepatitis b; hepatitis c; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
liver cirrhosis, alcoholic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease liver cirrhosis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis, biliary primary; diabetes, gestational Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cirrhosis, biliary primary; diabetes, gestational in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis c, chronic; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis c, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus; diabetic angiopathies; diabetic neuropathies; diabetic retinopathy; glucose intolerance; hemochromatosis; liver cirrhosis; proteinuria Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; diabetic angiopathies; diabetic neuropathies; diabetic retinopathy; glucose intolerance; hemochromatosis; liver cirrhosis; proteinuria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
liver cirrhosis, alcoholic; liver diseases, alcoholic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease liver cirrhosis, alcoholic; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcoholism; hyperhomocysteinemia; liver cirrhosis, alcoholic; protein-energy malnutrition Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcoholism; hyperhomocysteinemia; liver cirrhosis, alcoholic; protein-energy malnutrition in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis, alcoholic; liver neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis, alcoholic; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis c, chronic; iron overload; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis c, chronic; iron overload; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatty liver; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatty liver; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, hepatocellular; hepatitis c, chronic; liver cirrhosis; liver neoplasms; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, hepatocellular; hepatitis c, chronic; liver cirrhosis; liver neoplasms; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart diseases; hemochromatosis; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart diseases; hemochromatosis; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis b; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis b; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cirrhosis Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term cirrhosis in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Hepatitis C induced liver cirrhosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Hepatitis C induced liver cirrhosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Primary biliary cirrhosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Primary biliary cirrhosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
primary biliary cirrhosis Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease primary biliary cirrhosis in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
liver cirrhosis Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease liver cirrhosis in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
biliary cirrhosis Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the biliary cirrhosis phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
micronodular cirrhosis Gene SetFrom HPO Gene-Disease Associations genes associated with the micronodular cirrhosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
biliary cirrhosis Gene SetFrom HPO Gene-Disease Associations genes associated with the biliary cirrhosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cirrhosis Gene SetFrom HPO Gene-Disease Associations genes associated with the cirrhosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Liver Cirrhosis Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Liver Cirrhosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Liver Cirrhosis, Alcoholic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Liver Cirrhosis, Alcoholic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Liver Cirrhosis, Biliary Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Liver Cirrhosis, Biliary phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
liver cirrhosis Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the liver cirrhosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
biliary cirrhosis Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the biliary cirrhosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
{biliary cirrhosis, primary, 3} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {biliary cirrhosis, primary, 3} phenotype from the curated OMIM Gene-Disease Associations dataset. |
biliary cirrhosis, primary, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the biliary cirrhosis, primary, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
biliary cirrhosis, primary, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the biliary cirrhosis, primary, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{cirrhosis, noncryptogenic, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {cirrhosis, noncryptogenic, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
cirrhosis due to liver phosphorylase kinase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the cirrhosis due to liver phosphorylase kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
cirrhosis, north american indian childhood type Gene SetFrom OMIM Gene-Disease Associations genes associated with the cirrhosis, north american indian childhood type phenotype from the curated OMIM Gene-Disease Associations dataset. |
{biliary cirrhosis, primary, 2} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {biliary cirrhosis, primary, 2} phenotype from the curated OMIM Gene-Disease Associations dataset. |
cirrhosis, cryptogenic Gene SetFrom OMIM Gene-Disease Associations genes associated with the cirrhosis, cryptogenic phenotype from the curated OMIM Gene-Disease Associations dataset. |
emphysema-cirrhosis, due to aat deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the emphysema-cirrhosis, due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Liver Cirrhosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Liver Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Liver Cirrhosis, Experimental Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Liver Cirrhosis, Experimental in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cirrhosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary Biliary Cirrhosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Biliary Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Cirrhosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biliary Cirrhosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biliary Cirrhosis, Primary, 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary Cirrhosis, Primary, 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Early Cirrhosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Early Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Micronodular Cirrhosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Micronodular Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Liver Cirrhosis, Alcoholic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Liver Cirrhosis, Alcoholic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Copper-Overload Cirrhosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Copper-Overload Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Indian Childhood Cirrhosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Indian Childhood Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Compensated Cirrhosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Compensated Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Endemic Tyrolean Infantile Cirrhosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Endemic Tyrolean Infantile Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
North American Indian Childhood Cirrhosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease North American Indian Childhood Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cirrhosis, Noncryptogenic, Susceptibility To (Finding) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cirrhosis, Noncryptogenic, Susceptibility To (Finding) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardiac Cirrhosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cardiac Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Decompensated Cirrhosis Of Liver Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Decompensated Cirrhosis Of Liver in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Portal Cirrhosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Portal Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
biliary cirrhosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the biliary cirrhosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
liver cirrhosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the liver cirrhosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Liver cirrhosis Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Liver cirrhosis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Alcoholic liver cirrhosis Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Alcoholic liver cirrhosis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Liver cirrhosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Liver cirrhosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Alcoholic liver cirrhosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Alcoholic liver cirrhosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cirrhosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary North American Indian childhood cirrhosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary North American Indian childhood cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary biliary cirrhosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Primary biliary cirrhosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cirrhosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cirrhosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hepatitis B virus-related hepatocellular carcinoma vs hepatitis B virus-related decompensated cirrhosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hepatitis B virus-related hepatocellular carcinoma vs hepatitis B virus-related decompensated cirrhosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cirrhosis (alcohol related) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cirrhosis (alcohol related) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cirrhosis (multi-trait analysis) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cirrhosis (multi-trait analysis) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hepatitis C induced liver cirrhosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hepatitis C induced liver cirrhosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Alcohol dependence or chronic alcoholic pancreatitis or alcohol-related liver cirrhosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Alcohol dependence or chronic alcoholic pancreatitis or alcohol-related liver cirrhosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Dystonia 24 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant torsion dystonia 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant torsion dystonia 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myoclonic dystonia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myoclonic dystonia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Juvenile-onset dystonia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Juvenile-onset dystonia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 25 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 25 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 6, torsion Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 6, torsion phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 5, Dopa-responsive type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 5, Dopa-responsive type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 3, torsion, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 3, torsion, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile Parkinsonism-dystonia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile Parkinsonism-dystonia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Parkinsonism-Dystonia, Infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Parkinsonism-Dystonia, Infantile from the curated CTD Gene-Disease Associations dataset. |
Dystonia musculorum deformans type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia musculorum deformans type 2 from the curated CTD Gene-Disease Associations dataset. |
Dystonia 13, Torsion Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 13, Torsion from the curated CTD Gene-Disease Associations dataset. |
Dystonia musculorum deformans type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia musculorum deformans type 1 from the curated CTD Gene-Disease Associations dataset. |
Torsion dystonia 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Torsion dystonia 7 from the curated CTD Gene-Disease Associations dataset. |
Dystonia 17, Torsion, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 17, Torsion, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Dystonia 15, myoclonic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 15, myoclonic from the curated CTD Gene-Disease Associations dataset. |
Dystonia 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 12 from the curated CTD Gene-Disease Associations dataset. |
Myoclonic dystonia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myoclonic dystonia from the curated CTD Gene-Disease Associations dataset. |
Familial paroxysmal dystonia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial paroxysmal dystonia from the curated CTD Gene-Disease Associations dataset. |
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Juvenile-onset dystonia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Juvenile-onset dystonia from the curated CTD Gene-Disease Associations dataset. |
Dystonia 3, Torsion, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 3, Torsion, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Dystonia 6, torsion Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 6, torsion from the curated CTD Gene-Disease Associations dataset. |
Dystonia, Dopa-responsive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia, Dopa-responsive from the curated CTD Gene-Disease Associations dataset. |
Cervical Dystonia, Primary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cervical Dystonia, Primary from the curated CTD Gene-Disease Associations dataset. |
Dystonia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia from the curated CTD Gene-Disease Associations dataset. |
generalized dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease generalized dystonia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease dystonia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
deafness dystonia syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease deafness dystonia syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
dystonia Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease dystonia in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cranio-facial dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cranio-facial dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
focal dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease focal dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
generalized dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease generalized dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
deafness dystonia syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease deafness dystonia syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
dystonia, primary torsion Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia, primary torsion in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
complex regional pain syndromes; dystonia; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease complex regional pain syndromes; dystonia; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myoclonus dystonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myoclonus dystonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
idiopathic torsion dystonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease idiopathic torsion dystonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia, primary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia, primary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome deletion; dystonia; myoclonus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome deletion; dystonia; myoclonus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cervical dystonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cervical dystonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia, cervical Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia, cervical in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia, focal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia, focal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blepharospasm; dystonia; dystonic disorders; torticollis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blepharospasm; dystonia; dystonic disorders; torticollis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia, early onset primary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia, early onset primary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
akathisia, drug-induced; dystonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease akathisia, drug-induced; dystonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia; psychomotor disorders; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystonia; psychomotor disorders; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
focal dystonia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease focal dystonia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystonia Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term dystonia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Musician's dystonia Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Musician's dystonia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
craniofacial dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the craniofacial dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limb dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the limb dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
generalized dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the generalized dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
axial dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the axial dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
oromandibular dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the oromandibular dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
paroxysmal dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the paroxysmal dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
laryngeal dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the laryngeal dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
torsion dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the torsion dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
focal dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the focal dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Dystonia Musculorum Deformans Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Dystonia Musculorum Deformans phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Dystonia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Dystonia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
dystonia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the dystonia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
dystonia 6, torsion Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 6, torsion phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-17, primary torsion Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-17, primary torsion phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-parkinsonism, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-parkinsonism, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 4, torsion, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 4, torsion, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 13, torsion Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 13, torsion phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 21 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 21 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 24 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 24 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 25 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 25 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia, primary cervical Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, primary cervical phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia, myoclonic Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, myoclonic phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-1, torsion Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-1, torsion phenotype from the curated OMIM Gene-Disease Associations dataset. |
{dystonia-1, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {dystonia-1, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
parkinsonism-dystonia, infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the parkinsonism-dystonia, infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-7, torsion Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-7, torsion phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-11, myoclonic Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-11, myoclonic phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia, juvenile-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, juvenile-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-15, myoclonic Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-15, myoclonic phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia, dopa-responsive, due to sepiapterin reductase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, dopa-responsive, due to sepiapterin reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia, early-onset atypical, with myoclonic features Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, early-onset atypical, with myoclonic features phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia, dopa-responsive, with or without hyperphenylalaninemia Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, dopa-responsive, with or without hyperphenylalaninemia phenotype from the curated OMIM Gene-Disease Associations dataset. |
Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Juvenile-Onset Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Juvenile-Onset Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myoclonic Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myoclonic Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Focal Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Dominant Familial Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Familial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Recessive Familial Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Familial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Idiopathic Familial Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Familial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Early Onset Torsion Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Early Onset Torsion Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Musician'S Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Musician'S Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Segmental Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Segmental Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dopa-Responsive Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dopa-Responsive Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Isolated Cervical Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Isolated Cervical Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fragments Of Torsion Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fragments Of Torsion Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Idiopathic Non-Familial Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Non-Familial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Symptomatic Torsion Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Symptomatic Torsion Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cervical Dystonia, Primary Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cervical Dystonia, Primary in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Laryngeal Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Laryngeal Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Craniofacial Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Craniofacial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acquired Torsion Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acquired Torsion Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Torsion Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Torsion Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Myoclonic Epilepsy With Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Myoclonic Epilepsy With Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Generalized Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Cervical Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cervical Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Oromandibular Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Oromandibular Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Lingual Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lingual Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Axial Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Axial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Acute Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Acute Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Leg Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Leg Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Other Dystonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Other Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
dystonia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the dystonia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5619081 Gene Setproteins participating in the Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5619081 pathway from the Reactome Pathways 2024 dataset. |
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5660724 Gene Setproteins participating in the Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5660724 pathway from the Reactome Pathways 2024 dataset. |
Dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Dystonia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Focal dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Focal dystonia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
X-linked dystonia-parkinsonism Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked dystonia-parkinsonism from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Torsion dystonia 6 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Torsion dystonia 6 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Generalized dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Generalized dystonia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
dystonia, DOPA-responsive Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease dystonia, DOPA-responsive from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Dystonia 12 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Dystonia 12 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Dystonia 16 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Dystonia 16 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Multifocal dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Multifocal dystonia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
deafness-dystonia-optic neuronopathy syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease deafness-dystonia-optic neuronopathy syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Focal dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Focal dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
deafness-dystonia-optic neuronopathy syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease deafness-dystonia-optic neuronopathy syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 12 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Focal hand dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Focal hand dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multifocal dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multifocal dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Oromandibular dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oromandibular dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Segmental dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Segmental dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile parkinsonism-dystonia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile parkinsonism-dystonia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 16 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 16 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spasmodic dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spasmodic dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cervical dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cervical dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Torsion dystonia 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Torsion dystonia 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked dystonia-parkinsonism Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked dystonia-parkinsonism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Generalized dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Generalized dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 28, childhood-onset Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 28, childhood-onset in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Torsion dystonia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Torsion dystonia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
dystonia, DOPA-responsive Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease dystonia, DOPA-responsive in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myoclonic dystonia 26 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myoclonic dystonia 26 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 27 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 27 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myoclonic dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myoclonic dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 31 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 31 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 30 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 30 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 23 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 23 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myoclonic dystonia 11 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myoclonic dystonia 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 35, childhood-onset Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 35, childhood-onset in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
cranio-facial dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease cranio-facial dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 32 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 32 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Torsion dystonia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Torsion dystonia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 25 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 25 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Torsion dystonia 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Torsion dystonia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dystonia 24 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dystonia 24 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Torsion dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Torsion dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Paroxysmal dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Paroxysmal dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset generalized limb-onset dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset generalized limb-onset dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myoclonic dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myoclonic dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive DOPA responsive dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive DOPA responsive dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Dopa-responsive dystonia due to sepiapterin reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Dopa-responsive dystonia due to sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Developmental malformations-deafness-dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental malformations-deafness-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Parkinsonism-dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Parkinsonism-dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Limb dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Limb dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Dopa-responsive dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Dopa-responsive dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Generalized dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Generalized dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myoclonus-dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myoclonus-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked dystonia-parkinsonism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked dystonia-parkinsonism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Deafness dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Deafness dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TSPOAP1-related Dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TSPOAP1-related Dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Musician's dystonia Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Musician's dystonia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression Gene SetFrom Biocarta Pathways proteins participating in the basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression pathway from the Biocarta Pathways dataset. |
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coloboma, uveal, with cleft lip and palate and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diabetes mellitus AND insipidus with optic atrophy AND deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diabetes mellitus AND insipidus with optic atrophy AND deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH from the curated CTD Gene-Disease Associations dataset. |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation from the curated CTD Gene-Disease Associations dataset. |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux from the curated CTD Gene-Disease Associations dataset. |
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations from the curated CTD Gene-Disease Associations dataset. |
postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anxiety and hostility and depression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anxiety and hostility and depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
frontotemporal dementia and pick-like 3r and 4r tauopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease frontotemporal dementia and pick-like 3r and 4r tauopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
squamous cell carcinomas of the head and neck (scchn) and breast cancer Gene SetFrom GAD Gene-Disease Associations genes associated with the disease squamous cell carcinomas of the head and neck (scchn) and breast cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
vitamins and metabolites in pregnant women and neonates Gene SetFrom GAD Gene-Disease Associations genes associated with the disease vitamins and metabolites in pregnant women and neonates in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
racemase and epimerase activity, acting on amino acids and derivatives Gene SetFrom GO Molecular Function Annotations 2015 genes performing the racemase and epimerase activity, acting on amino acids and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
racemase and epimerase activity, acting on carbohydrates and derivatives Gene SetFrom GO Molecular Function Annotations 2015 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation phenotype from the curated OMIM Gene-Disease Associations dataset. |
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Gene SetFrom OMIM Gene-Disease Associations genes associated with the microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, progressive, seizures, and cerebral and cerebellar atrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Setproteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways dataset. |
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Setproteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways dataset. |
PI and PC transport between ER and Golgi membranes Gene Setproteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways dataset. |
Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Setproteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways dataset. |
FGFR1c and Klotho ligand binding and activation Gene Setproteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways dataset. |
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Setproteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways dataset. |
Synthesis and processing of ENV and VPU Gene Setproteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways dataset. |
Synthesis and interconversion of nucleotide di- and triphosphates Gene Setproteins participating in the Synthesis and interconversion of nucleotide di- and triphosphates pathway from the Reactome Pathways dataset. |
SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset. |
SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
racemase and epimerase activity, acting on carbohydrates and derivatives Gene SetFrom GO Molecular Function Annotations 2023 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
SRF and miRs in smooth muscle differentiation and proliferation Gene SetFrom WikiPathways Pathways 2024 proteins participating in the SRF and miRs in smooth muscle differentiation and proliferation pathway from the WikiPathways Pathways 2024 dataset. |
SREBF and miR33 in cholesterol and lipid homeostasis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis pathway from the WikiPathways Pathways 2024 dataset. |
RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis pathway from the WikiPathways Pathways 2024 dataset. |
ApoE and miR 146 in inflammation and atherosclerosis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the ApoE and miR 146 in inflammation and atherosclerosis pathway from the WikiPathways Pathways 2024 dataset. |
Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine pathway from the WikiPathways Pathways 2024 dataset. |
Somatroph axis GH and its relationship to dietary restriction and aging Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Somatroph axis GH and its relationship to dietary restriction and aging pathway from the WikiPathways Pathways 2024 dataset. |
Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms pathway from the WikiPathways Pathways 2024 dataset. |
GLP 1 from intestine and pancreas and role in glucose homeostasis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the GLP 1 from intestine and pancreas and role in glucose homeostasis pathway from the WikiPathways Pathways 2024 dataset. |
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Setproteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways 2024 dataset. |
Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) Gene Setproteins participating in the Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) pathway from the Reactome Pathways 2024 dataset. |
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Setproteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways 2024 dataset. |
FGFR1c and Klotho ligand binding and activation Gene Setproteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways 2024 dataset. |
MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Gene Setproteins participating in the MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis pathway from the Reactome Pathways 2024 dataset. |
Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Setproteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways 2024 dataset. |
PI and PC transport between ER and Golgi membranes Gene Setproteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways 2024 dataset. |
PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 Gene Setproteins participating in the PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 pathway from the Reactome Pathways 2024 dataset. |
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Gene Setproteins participating in the Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks pathway from the Reactome Pathways 2024 dataset. |
Synthesis and processing of ENV and VPU Gene Setproteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways 2024 dataset. |
Transcriptional and post-translational regulation of MITF-M expression and activity Gene Setproteins participating in the Transcriptional and post-translational regulation of MITF-M expression and activity pathway from the Reactome Pathways 2024 dataset. |
Transport of bile salts and organic acids, metal ions and amine compounds Gene Setproteins participating in the Transport of bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways 2024 dataset. |
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Setproteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways 2024 dataset. |
racemase and epimerase activity, acting on carbohydrates and derivatives Gene SetFrom GO Molecular Function Annotations 2025 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Vertebral anomalies and variable endocrine and T-cell dysfunction Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Vertebral anomalies and variable endocrine and T-cell dysfunction in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Vertebral anomalies and variable endocrine and T-cell dysfunction Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Vertebral anomalies and variable endocrine and T-cell dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Regulation of gene expression and signal transduction in immune and stress responses Gene SetFrom CM4AI U2OS Cell Map Protein Localization Assemblies proteins comprising Regulation of gene expression and signal transduction in immune and stress responses assembly using integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset. |
Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Basic cell groups and regions Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Basic cell groups and regions relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
head and face region of M1 Gene SetFrom Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles genes with high or low expression in head and face region of M1 relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. |
telomeres telomerase cellular aging and immortality Gene SetFrom Biocarta Pathways proteins participating in the telomeres telomerase cellular aging and immortality pathway from the Biocarta Pathways dataset. |
mcalpain and friends in cell motility Gene SetFrom Biocarta Pathways proteins participating in the mcalpain and friends in cell motility pathway from the Biocarta Pathways dataset. |
role of ppar-gamma coactivators in obesity and thermogenesis Gene SetFrom Biocarta Pathways proteins participating in the role of ppar-gamma coactivators in obesity and thermogenesis pathway from the Biocarta Pathways dataset. |
il12 and stat4 dependent signaling pathway in th1 development Gene SetFrom Biocarta Pathways proteins participating in the il12 and stat4 dependent signaling pathway in th1 development pathway from the Biocarta Pathways dataset. |
hypoxia and p53 in the cardiovascular system Gene SetFrom Biocarta Pathways proteins participating in the hypoxia and p53 in the cardiovascular system pathway from the Biocarta Pathways dataset. |
lissencephaly gene (lis1) in neuronal migration and development Gene SetFrom Biocarta Pathways proteins participating in the lissencephaly gene (lis1) in neuronal migration and development pathway from the Biocarta Pathways dataset. |
role of erbb2 in signal transduction and oncology Gene SetFrom Biocarta Pathways proteins participating in the role of erbb2 in signal transduction and oncology pathway from the Biocarta Pathways dataset. |
corticosteroids and cardioprotection Gene SetFrom Biocarta Pathways proteins participating in the corticosteroids and cardioprotection pathway from the Biocarta Pathways dataset. |
cyclins and cell cycle regulation Gene SetFrom Biocarta Pathways proteins participating in the cyclins and cell cycle regulation pathway from the Biocarta Pathways dataset. |
mechanism of acetaminophen activity and toxicity Gene SetFrom Biocarta Pathways proteins participating in the mechanism of acetaminophen activity and toxicity pathway from the Biocarta Pathways dataset. |
nfat and hypertrophy of the heart Gene SetFrom Biocarta Pathways proteins participating in the nfat and hypertrophy of the heart pathway from the Biocarta Pathways dataset. |
acetylation and deacetylation of rela in nucleus Gene SetFrom Biocarta Pathways proteins participating in the acetylation and deacetylation of rela in nucleus pathway from the Biocarta Pathways dataset. |
thrombin signaling and protease-activated receptors Gene SetFrom Biocarta Pathways proteins participating in the thrombin signaling and protease-activated receptors pathway from the Biocarta Pathways dataset. |
antigen processing and presentation Gene SetFrom Biocarta Pathways proteins participating in the antigen processing and presentation pathway from the Biocarta Pathways dataset. |
stathmin and breast cancer resistance to antimicrotubule agents Gene SetFrom Biocarta Pathways proteins participating in the stathmin and breast cancer resistance to antimicrotubule agents pathway from the Biocarta Pathways dataset. |
role of ß-arrestins in the activation and targeting of map kinases Gene SetFrom Biocarta Pathways proteins participating in the role of ß-arrestins in the activation and targeting of map kinases pathway from the Biocarta Pathways dataset. |
cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway Gene SetFrom Biocarta Pathways proteins participating in the cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway pathway from the Biocarta Pathways dataset. |
role of pi3k subunit p85 in regulation of actin organization and cell migration Gene SetFrom Biocarta Pathways proteins participating in the role of pi3k subunit p85 in regulation of actin organization and cell migration pathway from the Biocarta Pathways dataset. |
btg family proteins and cell cycle regulation Gene SetFrom Biocarta Pathways proteins participating in the btg family proteins and cell cycle regulation pathway from the Biocarta Pathways dataset. |
control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) Gene SetFrom Biocarta Pathways proteins participating in the control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) pathway from the Biocarta Pathways dataset. |
endocytotic role of ndk phosphins and dynamin Gene SetFrom Biocarta Pathways proteins participating in the endocytotic role of ndk phosphins and dynamin pathway from the Biocarta Pathways dataset. |
regulation of eif-4e and p70s6 kinase Gene SetFrom Biocarta Pathways proteins participating in the regulation of eif-4e and p70s6 kinase pathway from the Biocarta Pathways dataset. |
estrogen responsive protein efp controls cell cycle and breast tumors growth Gene SetFrom Biocarta Pathways proteins participating in the estrogen responsive protein efp controls cell cycle and breast tumors growth pathway from the Biocarta Pathways dataset. |
vegf hypoxia and angiogenesis Gene SetFrom Biocarta Pathways proteins participating in the vegf hypoxia and angiogenesis pathway from the Biocarta Pathways dataset. |
yaci and bcma stimulation of b cell immune responses Gene SetFrom Biocarta Pathways proteins participating in the yaci and bcma stimulation of b cell immune responses pathway from the Biocarta Pathways dataset. |
lck and fyn tyrosine kinases in initiation of tcr activation Gene SetFrom Biocarta Pathways proteins participating in the lck and fyn tyrosine kinases in initiation of tcr activation pathway from the Biocarta Pathways dataset. |
hiv-1 nef: negative effector of fas and tnf Gene SetFrom Biocarta Pathways proteins participating in the hiv-1 nef: negative effector of fas and tnf pathway from the Biocarta Pathways dataset. |
nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells Gene SetFrom Biocarta Pathways proteins participating in the nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells pathway from the Biocarta Pathways dataset. |
ucalpain and friends in cell spread Gene SetFrom Biocarta Pathways proteins participating in the ucalpain and friends in cell spread pathway from the Biocarta Pathways dataset. |
ionomycin and phorbal ester signaling pathway Gene SetFrom Biocarta Pathways proteins participating in the ionomycin and phorbal ester signaling pathway pathway from the Biocarta Pathways dataset. |
carm1 and regulation of the estrogen receptor Gene SetFrom Biocarta Pathways proteins participating in the carm1 and regulation of the estrogen receptor pathway from the Biocarta Pathways dataset. |
phosphoinositides and their downstream targets Gene SetFrom Biocarta Pathways proteins participating in the phosphoinositides and their downstream targets pathway from the Biocarta Pathways dataset. |
melanocyte development and pigmentation pathway Gene SetFrom Biocarta Pathways proteins participating in the melanocyte development and pigmentation pathway pathway from the Biocarta Pathways dataset. |
akap95 role in mitosis and chromosome dynamics Gene SetFrom Biocarta Pathways proteins participating in the akap95 role in mitosis and chromosome dynamics pathway from the Biocarta Pathways dataset. |
transcription factor creb and its extracellular signals Gene SetFrom Biocarta Pathways proteins participating in the transcription factor creb and its extracellular signals pathway from the Biocarta Pathways dataset. |
visceral fat deposits and the metabolic syndrome Gene SetFrom Biocarta Pathways proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset. |
the igf-1 receptor and longevity Gene SetFrom Biocarta Pathways proteins participating in the the igf-1 receptor and longevity pathway from the Biocarta Pathways dataset. |
cdc25 and chk1 regulatory pathway in response to dna damage Gene SetFrom Biocarta Pathways proteins participating in the cdc25 and chk1 regulatory pathway in response to dna damage pathway from the Biocarta Pathways dataset. |
human cytomegalovirus and map kinase pathways Gene SetFrom Biocarta Pathways proteins participating in the human cytomegalovirus and map kinase pathways pathway from the Biocarta Pathways dataset. |
influence of ras and rho proteins on g1 to s transition Gene SetFrom Biocarta Pathways proteins participating in the influence of ras and rho proteins on g1 to s transition pathway from the Biocarta Pathways dataset. |
proteolysis and signaling pathway of notch Gene SetFrom Biocarta Pathways proteins participating in the proteolysis and signaling pathway of notch pathway from the Biocarta Pathways dataset. |
apoptotic dna-fragmentation and tissue homeostasis Gene SetFrom Biocarta Pathways proteins participating in the apoptotic dna-fragmentation and tissue homeostasis pathway from the Biocarta Pathways dataset. |
ion channels and their functional role in vascular endothelium Gene SetFrom Biocarta Pathways proteins participating in the ion channels and their functional role in vascular endothelium pathway from the Biocarta Pathways dataset. |
alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease Gene SetFrom Biocarta Pathways proteins participating in the alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease pathway from the Biocarta Pathways dataset. |
fosb gene expression and drug abuse Gene SetFrom Biocarta Pathways proteins participating in the fosb gene expression and drug abuse pathway from the Biocarta Pathways dataset. |
links between pyk2 and map kinases Gene SetFrom Biocarta Pathways proteins participating in the links between pyk2 and map kinases pathway from the Biocarta Pathways dataset. |
opposing roles of aif in apoptosis and cell survival Gene SetFrom Biocarta Pathways proteins participating in the opposing roles of aif in apoptosis and cell survival pathway from the Biocarta Pathways dataset. |
degradation of the rar and rxr by the proteasome Gene SetFrom Biocarta Pathways proteins participating in the degradation of the rar and rxr by the proteasome pathway from the Biocarta Pathways dataset. |
cadmium induces dna synthesis and proliferation in macrophages Gene SetFrom Biocarta Pathways proteins participating in the cadmium induces dna synthesis and proliferation in macrophages pathway from the Biocarta Pathways dataset. |
erk and pi-3 kinase are necessary for collagen binding in corneal epithelia Gene SetFrom Biocarta Pathways proteins participating in the erk and pi-3 kinase are necessary for collagen binding in corneal epithelia pathway from the Biocarta Pathways dataset. |
role of brca1 brca2 and atr in cancer susceptibility Gene SetFrom Biocarta Pathways proteins participating in the role of brca1 brca2 and atr in cancer susceptibility pathway from the Biocarta Pathways dataset. |
chrebp regulation by carbohydrates and camp Gene SetFrom Biocarta Pathways proteins participating in the chrebp regulation by carbohydrates and camp pathway from the Biocarta Pathways dataset. |
pten dependent cell cycle arrest and apoptosis Gene SetFrom Biocarta Pathways proteins participating in the pten dependent cell cycle arrest and apoptosis pathway from the Biocarta Pathways dataset. |
induction of apoptosis through dr3 and dr4/5 death receptors Gene SetFrom Biocarta Pathways proteins participating in the induction of apoptosis through dr3 and dr4/5 death receptors pathway from the Biocarta Pathways dataset. |
CIITA-18437201-Raji B cells and iDC-human Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the CIITA-18437201-Raji B cells and iDC-human transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
VDR-23401126-LCL-AND-THP1-HUMAN Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the VDR-23401126-LCL-AND-THP1-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
BACH1-22875853-HELA-AND-SCP4-HUMAN Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the BACH1-22875853-HELA-AND-SCP4-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
Hypothyroidism, central, and testicular enlargement Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, central, and testicular enlargement phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Trifunctional protein deficiency with myopathy and neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Foveal hypoplasia and presenile cataract syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arthrogryposis, mental retardation, and seizures Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis, mental retardation, and seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vater association with macrocephaly and ventriculomegaly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vater association with macrocephaly and ventriculomegaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal hamartomas nephroblastomatosis and fetal gigantism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal hamartomas nephroblastomatosis and fetal gigantism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microtia, hearing impairment, and cleft palate Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microtia, hearing impairment, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ichthyosis, spastic quadriplegia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined cellular and humoral immune defects with granulomas Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined cellular and humoral immune defects with granulomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined d-2- and l-2-hydroxyglutaric aciduria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sinoatrial node dysfunction and deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sinoatrial node dysfunction and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation with language impairment and autistic features Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation with language impairment and autistic features phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warts, hypogammaglobulinemia, infections, and myelokathexis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warts, hypogammaglobulinemia, infections, and myelokathexis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibular hypoplasia and complex brachydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibular hypoplasia and complex brachydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, anterior maxillary protrusion, and strabismus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, anterior maxillary protrusion, and strabismus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile convulsions and paroxysmal choreoathetosis, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile convulsions and paroxysmal choreoathetosis, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short stature, optic nerve atrophy, and pelger-huet anomaly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short stature, optic nerve atrophy, and pelger-huet anomaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alzheimer disease, familial, 3, with spastic paraparesis and apraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Insulin-resistant diabetes mellitus AND acanthosis nigricans Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Insulin-resistant diabetes mellitus AND acanthosis nigricans phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial anomalies and anterior segment dysgenesis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness with labyrinthine aplasia microtia and microdontia (LAMM) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness with labyrinthine aplasia microtia and microdontia (LAMM) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple Cutaneous and Mucosal Venous Malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple Cutaneous and Mucosal Venous Malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy hereditary sensory and autonomic type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy hereditary sensory and autonomic type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly with mental retardation and digital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with mental retardation and digital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth retardation, developmental delay, coarse facies, and early death Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth retardation, developmental delay, coarse facies, and early death phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inflammatory skin and bowel disease, neonatal, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inflammatory skin and bowel disease, neonatal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anemia sideroblastic and spinocerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anemia sideroblastic and spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Facial dysmorphism, immunodeficiency, livedo, and short stature Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Facial dysmorphism, immunodeficiency, livedo, and short stature phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, congenital heart defects, and posterior embryotoxon Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infertility associated with multi-tailed spermatozoa and excessive DNA Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infertility associated with multi-tailed spermatozoa and excessive DNA phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Iris coloboma with ptosis, hypertelorism, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Iris coloboma with ptosis, hypertelorism, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rigidity and multifocal seizure syndrome, lethal neonatal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alopecia, neurologic defects, and endocrinopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mullerian aplasia and hyperandrogenism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mullerian aplasia and hyperandrogenism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Knuckle pads, deafness AND leukonychia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease and frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multicentric osteolysis, nodulosis and arthropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multicentric osteolysis, nodulosis and arthropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stapes ankylosis with broad thumb and toes Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stapes ankylosis with broad thumb and toes phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corneal dystrophy and perceptive deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corneal dystrophy and perceptive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy, hereditary motor and sensory, Okinawa type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy, hereditary motor and sensory, Okinawa type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, short stature, and impaired glucose metabolism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, short stature, and impaired glucose metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemorrhagic destruction of the brain, subependymal calcification, and cataracts phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jervell and Lange-Nielsen syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly, alopecia, cutis laxa, and scoliosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly, alopecia, cutis laxa, and scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypomyelination and Congenital Cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypomyelination and Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hirschsprung disease, cardiac defects, and autonomic dysfunction Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hirschsprung disease, cardiac defects, and autonomic dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardiomyopathy dilated with woolly hair and keratoderma Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardiomyopathy dilated with woolly hair and keratoderma phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arthrogryposis, renal dysfunction, and cholestasis 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis, renal dysfunction, and cholestasis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract and cardiomyopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract and cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inflammatory skin and bowel disease, neonatal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inflammatory skin and bowel disease, neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, microphthalmia and nystagmus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, microphthalmia and nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Foveal hypoplasia and anterior segment dysgenesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and anterior segment dysgenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bone fragility with contractures, arterial rupture, and deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bone fragility with contractures, arterial rupture, and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulna and fibula absence of with severe limb deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor v and factor viii, combined deficiency of, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary Paragangliomas and Pheochromocytomas Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary Paragangliomas and Pheochromocytomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
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. |
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniosynostosis and dental anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniosynostosis and dental anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mycobacterial and viral infections, susceptibility to, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mycobacterial and viral infections, susceptibility to, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, hyperphagia, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, hyperphagia, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebroretinal microangiopathy with calcifications and cysts Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebroretinal microangiopathy with calcifications and cysts phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
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. |
Microcephaly, postnatal progressive, with seizures and brain atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, postnatal progressive, with seizures and brain atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
calcium- and calmodulin-dependent protein kinase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the calcium- and calmodulin-dependent protein kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
mrna cleavage and polyadenylation specificity factor complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the mrna cleavage and polyadenylation specificity factor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
mitochondrial sorting and assembly machinery complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the mitochondrial sorting and assembly machinery complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
calcium- and calmodulin-dependent protein kinase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the calcium- and calmodulin-dependent protein kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
cortical layer of collagen and cuticulin-based cuticle extracellular matrix Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the cortical layer of collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen and cuticulin-based cuticle extracellular matrix Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
mrna cleavage and polyadenylation specificity factor complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the mrna cleavage and polyadenylation specificity factor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen and cuticulin-based cuticle extracellular matrix part Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix part cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
mitochondrial sorting and assembly machinery complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the mitochondrial sorting and assembly machinery complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
TRBP containing complex (DICER, RPL7A, EIF6, MOV10 and subunits of the 60S ribosomal particle) Gene Setproteins in the TRBP containing complex (DICER, RPL7A, EIF6, MOV10 and subunits of the 60S ribosomal particle) protein complex from the CORUM Protein Complexes dataset. |
NRD complex (Nucleosome remodeling and deacetylation complex) Gene Setproteins in the NRD complex (Nucleosome remodeling and deacetylation complex) protein complex from the CORUM Protein Complexes dataset. |
6S methyltransferase and RG-containing Sm proteins complex Gene Setproteins in the 6S methyltransferase and RG-containing Sm proteins complex protein complex from the CORUM Protein Complexes dataset. |
Remodeling and spacing factor (RSF) complex Gene Setproteins in the Remodeling and spacing factor (RSF) complex protein complex from the CORUM Protein Complexes dataset. |
PBAF complex (Polybromo- and BAF containing complex) Gene Setproteins in the PBAF complex (Polybromo- and BAF containing complex) protein complex from the CORUM Protein Complexes dataset. |
Cleavage and polyadenylation factor (CPSF) Gene Setproteins in the Cleavage and polyadenylation factor (CPSF) protein complex from the CORUM Protein Complexes dataset. |
Apoptosis- and splicing-associated protein complex (ASAP-L), SAP18-RNPS1-Acinus-L Gene Setproteins in the Apoptosis- and splicing-associated protein complex (ASAP-L), SAP18-RNPS1-Acinus-L protein complex from the CORUM Protein Complexes dataset. |
Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial Gene Setproteins in the Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial protein complex from the CORUM Protein Complexes dataset. |
Nucleic and chromatin Fanconi complex Gene Setproteins in the Nucleic and chromatin Fanconi complex protein complex from the CORUM Protein Complexes dataset. |
Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial Gene Setproteins in the Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial protein complex from the CORUM Protein Complexes dataset. |
Apoptosis- and splicing-associated protein complex (ASAP-S), SAP18-RNPS1-Acinus-S Gene Setproteins in the Apoptosis- and splicing-associated protein complex (ASAP-S), SAP18-RNPS1-Acinus-S protein complex from the CORUM Protein Complexes dataset. |
ATP-utilizing chromatin assembly and remodeling factor (hACF) complex Gene Setproteins in the ATP-utilizing chromatin assembly and remodeling factor (hACF) complex protein complex from the CORUM Protein Complexes dataset. |
20S methylosome and RG-containing Sm protein complex Gene Setproteins in the 20S methylosome and RG-containing Sm protein complex protein complex from the CORUM Protein Complexes dataset. |
Amino Acids, Peptides, and Proteins Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Amino Acids, Peptides, and Proteins from the curated CTD Gene-Chemical Interactions dataset. |
Bile Acids and Salts Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Bile Acids and Salts from the curated CTD Gene-Chemical Interactions dataset. |
Prime and Bond NT Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Prime and Bond NT from the curated CTD Gene-Chemical Interactions dataset. |
drospirenone and ethinyl estradiol combination Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical drospirenone and ethinyl estradiol combination from the curated CTD Gene-Chemical Interactions dataset. |
Hypophosphatemic Rickets And Hyperparathyroidism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypophosphatemic Rickets And Hyperparathyroidism from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset. |
Fibular hypoplasia and complex brachydactyly Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibular hypoplasia and complex brachydactyly from the curated CTD Gene-Disease Associations dataset. |
Synovitis granulomatous with uveitis and cranial neuropathies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Synovitis granulomatous with uveitis and cranial neuropathies from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS from the curated CTD Gene-Disease Associations dataset. |
Hereditary Sensory and Motor Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Sensory and Motor Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Preaxial deficiency, postaxial polydactyly and hypospadias Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset. |
Combined Cellular And Humoral Immune Defects With Granulomas Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Cellular And Humoral Immune Defects With Granulomas from the curated CTD Gene-Disease Associations dataset. |
OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS from the curated CTD Gene-Disease Associations dataset. |
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia from the curated CTD Gene-Disease Associations dataset. |
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia from the curated CTD Gene-Disease Associations dataset. |
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis from the curated CTD Gene-Disease Associations dataset. |
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma from the curated CTD Gene-Disease Associations dataset. |
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema from the curated CTD Gene-Disease Associations dataset. |
Microtia, Hearing Impairment, And Cleft Palate Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microtia, Hearing Impairment, And Cleft Palate from the curated CTD Gene-Disease Associations dataset. |
OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, Hereditary Sensory And Autonomic, Type IIB Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type IIB from the curated CTD Gene-Disease Associations dataset. |
Acromegaloid features, overgrowth, cleft palate, and hernia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acromegaloid features, overgrowth, cleft palate, and hernia from the curated CTD Gene-Disease Associations dataset. |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome from the curated CTD Gene-Disease Associations dataset. |
46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS from the curated CTD Gene-Disease Associations dataset. |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease from the curated CTD Gene-Disease Associations dataset. |
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress from the curated CTD Gene-Disease Associations dataset. |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis from the curated CTD Gene-Disease Associations dataset. |
Craniosynostosis, anal anomalies, and porokeratosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Craniosynostosis, anal anomalies, and porokeratosis from the curated CTD Gene-Disease Associations dataset. |
Sacral defect and anterior sacral meningocele Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sacral defect and anterior sacral meningocele from the curated CTD Gene-Disease Associations dataset. |
Classical Lissencephalies and Subcortical Band Heterotopias Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Classical Lissencephalies and Subcortical Band Heterotopias from the curated CTD Gene-Disease Associations dataset. |
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness from the curated CTD Gene-Disease Associations dataset. |
Optic atrophy 1 and deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Optic atrophy 1 and deafness from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, hereditary motor and sensory, Russe type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, Russe type from the curated CTD Gene-Disease Associations dataset. |
Blepharophimosis, Ptosis, and Epicanthus Inversus Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Blepharophimosis, Ptosis, and Epicanthus Inversus from the curated CTD Gene-Disease Associations dataset. |
Hypotrichosis And Recurrent Skin Vesicles Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypotrichosis And Recurrent Skin Vesicles from the curated CTD Gene-Disease Associations dataset. |
Signs and Symptoms, Digestive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Signs and Symptoms, Digestive from the curated CTD Gene-Disease Associations dataset. |
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia from the curated CTD Gene-Disease Associations dataset. |
Methylmalonic Aciduria and Homocystinuria, CblD Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblD Type from the curated CTD Gene-Disease Associations dataset. |
Head and Neck Neoplasms Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Head and Neck Neoplasms from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES from the curated CTD Gene-Disease Associations dataset. |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects from the curated CTD Gene-Disease Associations dataset. |
Cataract, Juvenile, With Microcornea And Glucosuria Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Juvenile, With Microcornea And Glucosuria from the curated CTD Gene-Disease Associations dataset. |
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER from the curated CTD Gene-Disease Associations dataset. |
Venous Malformations, Multiple Cutaneous and Mucosal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Venous Malformations, Multiple Cutaneous and Mucosal from the curated CTD Gene-Disease Associations dataset. |
BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA from the curated CTD Gene-Disease Associations dataset. |
Postoperative Nausea and Vomiting Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Postoperative Nausea and Vomiting from the curated CTD Gene-Disease Associations dataset. |
Myopathy with lactic acidosis and sideroblastic anemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy with lactic acidosis and sideroblastic anemia from the curated CTD Gene-Disease Associations dataset. |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells from the curated CTD Gene-Disease Associations dataset. |
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY from the curated CTD Gene-Disease Associations dataset. |
Keratitis, Ichthyosis, and Deafness (KID) Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Keratitis, Ichthyosis, and Deafness (KID) Syndrome from the curated CTD Gene-Disease Associations dataset. |
Bifid Nose With Or Without Anorectal And Renal Anomalies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bifid Nose With Or Without Anorectal And Renal Anomalies from the curated CTD Gene-Disease Associations dataset. |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Cataracts, Facial Dysmorphism, And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Corneal dystrophy and perceptive deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corneal dystrophy and perceptive deafness from the curated CTD Gene-Disease Associations dataset. |
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY from the curated CTD Gene-Disease Associations dataset. |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Skeletal Dysplasia, and Abducens Palsy from the curated CTD Gene-Disease Associations dataset. |
Hypopituitarism and septooptic 'dysplasia' Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypopituitarism and septooptic 'dysplasia' from the curated CTD Gene-Disease Associations dataset. |
PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL from the curated CTD Gene-Disease Associations dataset. |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps from the curated CTD Gene-Disease Associations dataset. |
Aplasia of Lacrimal and Salivary Glands Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aplasia of Lacrimal and Salivary Glands from the curated CTD Gene-Disease Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA from the curated CTD Gene-Disease Associations dataset. |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities from the curated CTD Gene-Disease Associations dataset. |
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY from the curated CTD Gene-Disease Associations dataset. |
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria from the curated CTD Gene-Disease Associations dataset. |
Calcification of Joints and Arteries Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Calcification of Joints and Arteries from the curated CTD Gene-Disease Associations dataset. |
CHOANAL ATRESIA AND LYMPHEDEMA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CHOANAL ATRESIA AND LYMPHEDEMA from the curated CTD Gene-Disease Associations dataset. |
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis from the curated CTD Gene-Disease Associations dataset. |
Hereditary Motor And Sensory Neuropathy, Type IIC Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy, Type IIC from the curated CTD Gene-Disease Associations dataset. |
Asthma, Nasal Polyps, And Aspirin Intolerance Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Asthma, Nasal Polyps, And Aspirin Intolerance from the curated CTD Gene-Disease Associations dataset. |
Neoplasms, Germ Cell and Embryonal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neoplasms, Germ Cell and Embryonal from the curated CTD Gene-Disease Associations dataset. |
Hereditary Motor And Sensory Neuropathy VI Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy VI from the curated CTD Gene-Disease Associations dataset. |
Cutis Gyrata Syndrome of Beare And Stevenson Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Gyrata Syndrome of Beare And Stevenson from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 from the curated CTD Gene-Disease Associations dataset. |
Wounds and Injuries Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Wounds and Injuries from the curated CTD Gene-Disease Associations dataset. |
Schizophrenia and Disorders with Psychotic Features Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Schizophrenia and Disorders with Psychotic Features from the curated CTD Gene-Disease Associations dataset. |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration from the curated CTD Gene-Disease Associations dataset. |
Sleep Initiation and Maintenance Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sleep Initiation and Maintenance Disorders from the curated CTD Gene-Disease Associations dataset. |
Methylmalonic Aciduria and Homocystinuria, CblF Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblF Type from the curated CTD Gene-Disease Associations dataset. |
Scaphocephaly, Maxillary Retrusion, And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Scaphocephaly, Maxillary Retrusion, And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Cataract and cardiomyopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract and cardiomyopathy from the curated CTD Gene-Disease Associations dataset. |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 from the curated CTD Gene-Disease Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA from the curated CTD Gene-Disease Associations dataset. |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, hereditary motor and sensory, Okinawa type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, Okinawa type from the curated CTD Gene-Disease Associations dataset. |
Spastic Paraplegia, Optic Atrophy, and Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia, Optic Atrophy, and Neuropathy from the curated CTD Gene-Disease Associations dataset. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |