GO:0000981
| Ontology term |
Gene (Gene Symbol) |
Gene Name |
Pathways |
Associated Diseases |
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| AR |
Androgen receptor |
Oocyte meiosis, Pathways in cancer, Prostate cancer, HSP90 chaperone cycle for steroid hormone receptors (SHR), Nuclear Receptor transcription pathway, SUMOylation of intracellular receptors, Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3, Ub-specific processing proteases, RUNX2 regulates osteoblast differentiation |
Prostate cancer, Reifenstein Syndrome, Leukemia, Male Pseudohermaphroditism, Androgen-Insensitivity Syndrome, Alopecia, Prostatic Intraepithelial Neoplasias, Astrocytoma, Kennedy disease, Grade I Astrocytoma, Meniere Disease, Mental Depression, Childhood Cerebral Astrocytoma, Male infertility, Schizophrenia, Androgen Receptor Deficiency, Breast Cancer,Male, Liver Cancer, Hypertensive disease, Cerebral Astrocytoma, Subfertility, Female, Breast Cancer, Intracranial Astrocytoma, Hypospadias, Testicular Feminization, Mood Disorders, Coronary heart disease, Autistic Disorder, Oligoastrocytoma, PCOS, Vulvar Cancer, Obstructive Sleep Apnea, Preeclampsia
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| ARNTL |
Aryl hydrocarbon receptor nuclear translocator like |
Circadian rhythm, Dopaminergic synapse, BMAL1:CLOCK,NPAS2 activates circadian gene expression |
Mood Disorders, Myocardial Ischemia, Subfertility, Female, Bipolar Disorder, Mental Depression, Myocardial Infarction, Multiple congenital anomalies, Arteriosclerosis, Ischemic Cardiomyopathy, Myeloid Leukemia, Seasonal Affective Disorder, PCOS, Gluocose Intolerance
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| ATF4 |
Activating transcription factor 4 |
MAPK signaling pathway, cGMP-PKG signaling pathway, Mitophagy - animal, Protein processing in endoplasmic reticulum, PI3K-Akt signaling pathway, Apoptosis, Longevity regulating pathway, Adrenergic signaling in cardiomyocytes, TNF signaling pathway, Long-term potentiation, Neurotrophin signaling pathway, Cholinergic synapse, Dopaminergic synapse, Insulin secretion, GnRH signaling pathway, Estrogen signaling pathway, Thyroid hormone synthesis, Glucagon signaling pathway, Aldosterone synthesis and secretion, Relaxin signaling pathway, Cortisol synthesis and secretion, Parathyroid hormone synthesis, secretion and action, Non-alcoholic fatty liver disease (NAFLD), Cushing syndrome, Cocaine addiction, Amphetamine addiction, Alcoholism, Hepatitis B, Human cytomegalovirus infection, Human T-cell leukemia virus 1 infection, Viral carcinogenesis, Prostate cancer, ATF4 activates genes in response to endoplasmic reticulum stress, ATF6 (ATF6-alpha) activates chaperone genes, Response of EIF2AK4 (GCN2) to amino acid deficiency, Response of EIF2AK1 (HRI) to heme deficiency |
Schizophrenia, Fatty Liver, Breast Cancer, Mental Depression, Bipolar Disorder, PCOS
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| RUNX2 |
RUNX family transcription factor 2 |
Parathyroid hormone synthesis, secretion and action, Transcriptional misregulation in cancer, Transcriptional regulation by RUNX2, RUNX1 regulates transcription of genes involved in differentiation of myeloid cells, Regulation of RUNX2 expression and activity, RUNX2 regulates osteoblast differentiation, RUNX2 regulates bone development, RUNX2 regulates genes involved in cell migration, RUNX2 regulates genes involved in differentiation of myeloid cells |
Skeletal Dysplasia, Odontome, Osteosarcoma, Osteoarthrosis Deformans, Rheumatoid Arthritis, Arthritis, Psoriatic, Stomatognathic System Abnormalities, Craniosynostosis, Arthritis, Uremia, Spondylarthritis, PCOS
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| CDX2 |
Caudal type homeobox 2 |
Gastric cancer, Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) |
PCOS, Colonic Neoplasms, Colorectal Cancer, Teratomas, Carcinoma, Neoplasms, Leukemia, Gastric Cancer, Myeloid Leukemia, Genital Neoplasms, Male, Pancreatic Neoplasm, Lung Cancer, Colitis, Adenocarcinoma Of Large Intestine, Adenoma, Nephrolithiasis, Inflammatory Bowel Diseases, Liver Cancer, Cystitis, Gastrointestinal Cancer, Breast Cancer, Ampullary Cancer, Bile Duct Cancer, Ovarian Adenocarcinoma, Muscular Dystrophy, Cholelithiasis, Esophagus Neoplasm, Intestinal Cancer, Gastritis, Gastroesophageal reflux disease, Adenocarcinoma, Thyroid Cancer, Choriocarcinoma, Hematologic Neoplasms, Adenocarcinoma of Prostate, Prostate cancer, Dwarfism, Cervical Cancer, Pancreatic Cyst, Squamous Cell Carcinoma, Hematopoietic Neoplasms, Pulmonary Adenocarcinoma, Skeletal Dysplasia, Esophagitis, Psoriasis, Intrahepatic Cholangiocarcinoma, Focal Adenocarcinoma, Ovarian Cysts, Erythroderma, Allergic rhinitis, Endometrial Cancer, Pancreatic Ductal Adenocarcinoma, Vulvar Cancer
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| CEBPB |
CCAAT enhancer binding protein beta |
IL-17 signaling pathway, TNF signaling pathway, Tuberculosis, Transcriptional misregulation in cancer, Senescence-Associated Secretory Phenotype (SASP), Transcriptional regulation of white adipocyte differentiation, Transcriptional Regulation by VENTX, Response of EIF2AK4 (GCN2) to amino acid deficiency, Response of EIF2AK1 (HRI) to heme deficiency |
Cerebral Ischemia, Liver Cancer, Pulmonary Fibrosis, Fatty Liver, Subfertility, Female, PCOS
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| ESR1 |
Estrogen receptor 1 |
Endocrine resistance, Estrogen signaling pathway, Prolactin signaling pathway, Thyroid hormone signaling pathway, Endocrine and other factor-regulated calcium reabsorption, Pathways in cancer, Proteoglycans in cancer, Breast cancer, Nuclear signaling by ERBB4, PIP3 activates AKT signaling, Constitutive Signaling by Aberrant PI3K in Cancer, Nuclear Receptor transcription pathway, SUMOylation of intracellular receptors, Ovarian tumor domain proteases, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, TFAP2 (AP-2) family regulates transcription of growth factors and their receptors, RUNX1 regulates estrogen receptor mediated transcription, ESR-mediated signaling, RUNX1 regulates transcription of genes involved in WNT signaling, Regulation of RUNX2 expression and activity, Extra-nuclear estrogen signaling, Estrogen-dependent gene expression |
Liver Cancer, Breast Cancer, Oligospermia, Mesothelioma, Lung Cancer, Male infertility, Mood Disorders, Myocardial Infarction, Migraine, Estrogen Resistance, Intracranial Astrocytoma, Prostate cancer, Schizophrenia, Uterine Fibroids, Mental Depression, Bone Diseases, Bipolar Disorder, Meniere Disease, Grade I Astrocytoma, Childhood Cerebral Astrocytoma, Adenocarcinoma, Fibroid Tumor, Shared Paranoid Disorder, Astrocytoma, Neuroblastoma, Endometrial Cancer, Subfertility, Female, Cerebral Astrocytoma, Bladder Cancer, Endometriosis, Alzheimer Disease, Atherosclerosis, Female Urogenital Diseases, Nephritis, Sick Headaches, Arteriosclerosis, Carcinoma, Osteopenia, Obesity, Leukemia, Anaplastic Carcinoma, Senile Dementia, Oligoastrocytoma, Prostatic Intraepithelial Neoplasias, Metabolic Bone Disorder, Cribriform Carcinoma, Glomerulonephritis, PCOS, Vulvar Cancer, Preeclampsia
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| ESR2 |
Estrogen receptor 2 |
Endocrine resistance, Estrogen signaling pathway, Prolactin signaling pathway, Pathways in cancer, Breast cancer, PIP3 activates AKT signaling, Constitutive Signaling by Aberrant PI3K in Cancer, Nuclear Receptor transcription pathway, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, ESR-mediated signaling, Extra-nuclear estrogen signaling |
Medulloblastoma, Prostate cancer, Carcinoma, Schizophrenia, Bladder Cancer, Astrocytoma, Breast Cancer, Mental Depression, Adenocarcinoma, Colorectal Cancer, Arteriosclerosis, Anaplastic Carcinoma, Endometrioma, Endometriosis, Endometrial Cancer, Childhood Cerebral Astrocytoma, Meniere Disease, Subfertility, Female, Intracranial Astrocytoma, Cerebral Astrocytoma, Cribriform Carcinoma, Prostate Carcinoma, Coronary heart disease, Prostatic Intraepithelial Neoplasias, Grade I Astrocytoma, Oligoastrocytoma, PCOS, Eating Disorders
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| FOXO1 |
Forkhead box O1 |
FoxO signaling pathway, AMPK signaling pathway, Longevity regulating pathway, Longevity regulating pathway - multiple species, Cellular senescence, Insulin signaling pathway, Thyroid hormone signaling pathway, Glucagon signaling pathway, Insulin resistance, AGE-RAGE signaling pathway in diabetic complications, Human papillomavirus infection, Pathways in cancer, Transcriptional misregulation in cancer, Prostate cancer, AKT phosphorylates targets in the nucleus, AKT-mediated inactivation of FOXO1A, Constitutive Signaling by AKT1 E17K in Cancer, MAPK6/MAPK4 signaling, Interleukin-4 and Interleukin-13 signaling, Regulation of localization of FOXO transcription factors, FOXO-mediated transcription of cell death genes, FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes, Regulation of FOXO transcriptional activity by acetylation, FOXO-mediated transcription of cell cycle genes |
Prostate cancer, Leukemia, Myeloid Leukemia, Keratoconus, PCOS, Gluocose Intolerance
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| FOXO3 |
Forkhead box O3 |
EGFR tyrosine kinase inhibitor resistance, Chemokine signaling pathway, FoxO signaling pathway, Mitophagy - animal, PI3K-Akt signaling pathway, AMPK signaling pathway, Longevity regulating pathway, Longevity regulating pathway - multiple species, Cellular senescence, Neurotrophin signaling pathway, Prolactin signaling pathway, Endometrial cancer, Non-small cell lung cancer, Signaling by NODAL, AKT phosphorylates targets in the nucleus, Constitutive Signaling by AKT1 E17K in Cancer, MAPK6/MAPK4 signaling, Interleukin-4 and Interleukin-13 signaling, Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models, RUNX3 regulates BCL2L11 (BIM) transcription, Regulation of localization of FOXO transcription factors, FOXO-mediated transcription of cell death genes, FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes, Regulation of FOXO transcriptional activity by acetylation, FOXO-mediated transcription of cell cycle genes, Estrogen-dependent nuclear events downstream of ESR-membrane signaling |
Airway Obstruction, Schizophrenia, Chronic Obstructive Pulmonary Disease, Lung Cancer, Gastrointestinal Cancer, Crohn Disease, Adenoid Cystic Carcinoma, Obesity, Bipolar Disorder, PCOS
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| FOS |
Fos proto-oncogene, AP-1 transcription factor subunit |
Endocrine resistance, MAPK signaling pathway, cAMP signaling pathway, Apoptosis, Osteoclast differentiation, Toll-like receptor signaling pathway, IL-17 signaling pathway, Th1 and Th2 cell differentiation, Th17 cell differentiation, T cell receptor signaling pathway, B cell receptor signaling pathway, TNF signaling pathway, Circadian entrainment, Cholinergic synapse, Dopaminergic synapse, Estrogen signaling pathway, Prolactin signaling pathway, Oxytocin signaling pathway, Relaxin signaling pathway, Parathyroid hormone synthesis, secretion and action, Amphetamine addiction, Salmonella infection, Pertussis, Yersinia infection, Leishmaniasis, Chagas disease (American trypanosomiasis), Hepatitis B, Measles, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Human immunodeficiency virus 1 infection, Pathways in cancer, Colorectal cancer, Breast cancer, Choline metabolism in cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Rheumatoid arthritis, Fluid shear stress and atherosclerosis, Oxidative Stress Induced Senescence, Senescence-Associated Secretory Phenotype (SASP), FCERI mediated MAPK activation, Activation of the AP-1 family of transcription factors, Interleukin-4 and Interleukin-13 signaling, TP53 Regulates Transcription of DNA Repair Genes, Estrogen-dependent gene expression, NGF-stimulated transcription, Estrogen-dependent nuclear events downstream of ESR-membrane signaling |
Status Epilepticus, Seizures, Lung Cancer, Trigeminal neuralgia, Jacksonian Seizure, Atonic seizures, Petit mal status, Middle Cerebral Artery Syndrome, Osteitis Fibrosa Disseminata, Lateral Sclerosis, Juvenile arthritis, Hypertensive disease, Cerebral Artery Infarction, Breast Cancer, Meniere Disease, Mental Depression, Anxiety Disorders, Brain Infarction, Cerebral Thrombosis, Endometriosis, Still Disease, Epilepsy, Endometrioma, Cholestasis, Liver Cancer, PCOS, Vulvar Cancer
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| NR5A1 |
Nuclear receptor subfamily 5 group A member 1 |
Cortisol synthesis and secretion, Cushing syndrome, Nuclear Receptor transcription pathway, SUMOylation of intracellular receptors, Transcriptional regulation of pluripotent stem cells |
Gonadal Dysgenesis, 46,XX, Male infertility, Ovarian Failure, Gonadal Dysgenesis, 46,XY, Endometriosis, Adrenal Insufficiency, Endometrioma, Gonadotropin-Resistant Ovary Syndrome, Ovarian Cancer, Disorders of Sex Development, Spermatogenic Failure, PCOS, Preeclampsia
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| GATA4 |
GATA binding protein 4 |
cGMP-PKG signaling pathway, Cellular senescence, Tight junction, Thyroid hormone signaling pathway, YAP1- and WWTR1 (TAZ)-stimulated gene expression, Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP), Physiological factors, Factors involved in megakaryocyte development and platelet production |
Ventricular Septal Defect, Tetralogy of Fallot, Colorectal Cancer, Atrial septal defect, Congenital diaphragmatic hernia, Disorders of Sex Development, Myocardial Infarction, Genital Neoplasms, Male, Congenital heart disease, Testicular Anomalies, PCOS
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| GATA6 |
GATA binding protein 6 |
Surfactant metabolism, Factors involved in megakaryocyte development and platelet production |
Tetralogy of Fallot, Conotruncal Heart Malformations, Persistent truncus arteriosus, Lung Cancer, Congenital diaphragmatic hernia, Pancreatic Agenesis, Double Outlet Right Ventricle, Cardiovascular Abnormalities, Atrial septal defect, Interrupted Aortic Arch, Conotruncal Anomaly Face Syndrome, Pancreatic agenesis and congenital heart disease, PCOS
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| NR3C1 |
Nuclear receptor subfamily 3 group C member 1 |
Neuroactive ligand-receptor interaction, HSP90 chaperone cycle for steroid hormone receptors (SHR), Nuclear Receptor transcription pathway, SUMOylation of intracellular receptors, PTK6 Expression |
Manic Disorder, Glucocorticoid Receptor Deficiency, Schizoaffective Disorder, Hypertensive disease, Lung Diseases, Mental Depression, Mood Disorders, Psychosis, Bipolar Disorder, Schizophreniform Disorders, Ocular Hypertension, Schizophrenia, Gonadal Dysgenesis, 46,XX, Pseudohermaphroditism, Endometrioma, Prostate cancer, Melancholia, Endometriosis, Pseudohermaphroditism With Hypokalemia, PCOS, Obstructive Sleep Apnea, Gluocose Intolerance
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| HIF1A |
Hypoxia inducible factor 1 subunit alpha |
HIF-1 signaling pathway, Mitophagy - animal, Autophagy - animal, Th17 cell differentiation, Thyroid hormone signaling pathway, Kaposi sarcoma-associated herpesvirus infection, Pathways in cancer, Proteoglycans in cancer, Renal cell carcinoma, Central carbon metabolism in cancer, Choline metabolism in cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Regulation of gene expression by Hypoxia-inducible Factor, Cellular response to hypoxia, Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha, Ub-specific processing proteases, Interleukin-4 and Interleukin-13 signaling, PTK6 Expression, PTK6 promotes HIF1A stabilization, Neddylation |
Ductal Carcinoma, Astrocytoma, Multiple Hemangioblastomas, Hypertensive disease, Erythrocytosis, Breast Cancer, Ischemic Encephalopathy, Glioblastoma, Pulmonary Fibrosis, Grade I Astrocytoma, Thyroid Cancer, Childhood Cerebral Astrocytoma, Prostate cancer, Pancreatic Neoplasm, Cholangitis, Diabetes Mellitus, Cerebral Ischemia, Heart Failure, Glioblastoma Multiforme, Myocardial Failure, Skin Cancer, Oligoastrocytoma, Intraductal Carcinoma, Bipolar Disorder, Esophagus Neoplasm, Anaplasia, Breast Hyperplasia, Mood Disorders, Biliary Cirrhosis, Hemangioblastoma, Intracranial Astrocytoma, Mental Depression, Anaplastic Carcinoma, Carcinoma, Cerebral Astrocytoma, Cardiovascular Abnormalities, PCOS, Vulvar Cancer, Obstructive Sleep Apnea, Gluocose Intolerance, Preeclampsia
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| NR4A1 |
Nuclear receptor subfamily 4 group A member 1 |
MAPK signaling pathway, PI3K-Akt signaling pathway, Aldosterone synthesis and secretion, Cortisol synthesis and secretion, Cushing syndrome, AKT phosphorylates targets in the nucleus, Nuclear Receptor transcription pathway, Constitutive Signaling by AKT1 E17K in Cancer |
PCOS, Endometriosis, Colonic Neoplasms, Hyperandrogenism, Inflammatory Bowel Diseases, Liver Diseases, Lymphoma, Ventricular Fibrillation, Atherosclerosis, Ovarian Cancer, Diabetes Mellitus, Cardiomyopathy, Breast Cancer, Pancreatic Neoplasm, Gastric Cancer, Rhabdomyoma, Pulmonary Fibrosis, Hypercholesterolemia, Adrenal Cancer, Seizures, Myeloid Leukemia, Epilepsy, Obesity, Leydig Cell Tumor, Liver Cancer, Squamous Cell Carcinoma, Adrenal Cortex Diseases, Myelodysplastic Syndrome, Dyskinesia, Hyperinsulinism
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| FOXA2 |
Forkhead box A2 |
Longevity regulating pathway - multiple species, Maturity onset diabetes of the young |
PCOS
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| JUN |
Jun proto-oncogene, AP-1 transcription factor subunit |
Endocrine resistance, MAPK signaling pathway, ErbB signaling pathway, cAMP signaling pathway, Mitophagy - animal, Apoptosis, Wnt signaling pathway, Osteoclast differentiation, Focal adhesion, Tight junction, Toll-like receptor signaling pathway, NOD-like receptor signaling pathway, C-type lectin receptor signaling pathway, IL-17 signaling pathway, Th1 and Th2 cell differentiation, Th17 cell differentiation, T cell receptor signaling pathway, B cell receptor signaling pathway, TNF signaling pathway, Neurotrophin signaling pathway, GnRH signaling pathway, Estrogen signaling pathway, Oxytocin signaling pathway, Relaxin signaling pathway, Non-alcoholic fatty liver disease (NAFLD), AGE-RAGE signaling pathway in diabetic complications, Cocaine addiction, Amphetamine addiction, Epithelial cell signaling in Helicobacter pylori infection, Salmonella infection, Pertussis, Yersinia infection, Leishmaniasis, Chagas disease (American trypanosomiasis), Hepatitis B, Measles, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, Pathways in cancer, Viral carcinogenesis, Colorectal cancer, Renal cell carcinoma, Breast cancer, Choline metabolism in cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Inflammatory bowel disease (IBD), Rheumatoid arthritis, Fluid shear stress and atherosclerosis, Pre-NOTCH Transcription and Translation, Oxidative Stress Induced Senescence, Senescence-Associated Secretory Phenotype (SASP), FCERI mediated MAPK activation, Activation of the AP-1 family of transcription factors, MAPK6/MAPK4 signaling, TP53 Regulates Transcription of DNA Repair Genes, Regulation of PTEN gene transcription, Estrogen-dependent gene expression, WNT5:FZD7-mediated leishmania damping |
Liver Cancer, Schizophrenia, Mercury Psychosis, Colonic Neoplasms, Osteosarcoma, Petit mal status, Status Epilepticus, Stomach Cancer, Hemangioma, Lung Cancer, Gastric Cancer, Juvenile arthritis, Breast Cancer, Cholestasis, Hypertensive disease, Cerebral Ischemia, Neuropathy, Still Disease, PCOS, Vulvar Cancer
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| JUNB |
JunB proto-oncogene, AP-1 transcription factor subunit |
Osteoclast differentiation, TNF signaling pathway, SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription, Interleukin-4 and Interleukin-13 signaling, NGF-stimulated transcription |
Status Epilepticus, Brain Infarction, Lung Cancer, Petit mal status, Cerebral Artery Infarction, Myocardial Ischemia, Middle Cerebral Artery Syndrome, Cerebral Thrombosis, PCOS, Obstructive Sleep Apnea
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| NFE2L2 |
Nuclear factor, erythroid 2 like 2 |
Protein processing in endoplasmic reticulum, Pathways in cancer, Hepatocellular carcinoma, Fluid shear stress and atherosclerosis |
Non-alcoholic Fatty Liver Disease, Pulmonary Fibrosis, Liver Fibrosis, Liver Cancer, Heart Failure, Hyperglycemia, Liver Cirrhosis, Cholestasis, Keratosis, Liver Diseases, Diabetic Nephropathy, Endometrial Cancer, Lung Cancer, Skin Cancer, Prostate cancer, Carcinoma, Kidney Insufficiency, Fatty Liver, Cholera Infantum, Myocardial Failure, Ovarian Failure, Hepatitis, Kidney Failure, Pancreatic Neoplasm, Gastrointestinal Diseases, Immunodeficiency, Developmental Delay, And Hypohomocysteinemia, Glomerulosclerosis, Esophagus Neoplasm, Head Neoplasms, Renal Cancer, Bladder Cancer, Dermatitis, Gonadotropin-Resistant Ovary Syndrome, PCOS, Obstructive Sleep Apnea, Preeclampsia
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| NFKB1 |
Nuclear factor kappa B subunit 1 |
Antifolate resistance, MAPK signaling pathway, Ras signaling pathway, cAMP signaling pathway, Chemokine signaling pathway, NF-kappa B signaling pathway, HIF-1 signaling pathway, Sphingolipid signaling pathway, PI3K-Akt signaling pathway, Apoptosis, Longevity regulating pathway, Cellular senescence, Osteoclast differentiation, Toll-like receptor signaling pathway, NOD-like receptor signaling pathway, RIG-I-like receptor signaling pathway, Cytosolic DNA-sensing pathway, C-type lectin receptor signaling pathway, IL-17 signaling pathway, Th1 and Th2 cell differentiation, Th17 cell differentiation, T cell receptor signaling pathway, B cell receptor signaling pathway, TNF signaling pathway, Neurotrophin signaling pathway, Prolactin signaling pathway, Adipocytokine signaling pathway, Relaxin signaling pathway, Insulin resistance, Non-alcoholic fatty liver disease (NAFLD), AGE-RAGE signaling pathway in diabetic complications, Cocaine addiction, Epithelial cell signaling in Helicobacter pylori infection, Shigellosis, Salmonella infection, Pertussis, Legionellosis, Yersinia infection, Leishmaniasis, Chagas disease (American trypanosomiasis), Toxoplasmosis, Amoebiasis, Tuberculosis, Hepatitis C, Hepatitis B, Measles, Human cytomegalovirus infection, Influenza A, Human papillomavirus infection, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, Pathways in cancer, Transcriptional misregulation in cancer, Viral carcinogenesis, MicroRNAs in cancer, Pancreatic cancer, Prostate cancer, Chronic myeloid leukemia, Acute myeloid leukemia, Small cell lung cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Inflammatory bowel disease (IBD), Fluid shear stress and atherosclerosis, Activation of NF-kappaB in B cells, RIP-mediated NFkB activation via ZBP1, Regulated proteolysis of p75NTR, Downstream TCR signaling, NF-kB is activated and signals survival, Senescence-Associated Secretory Phenotype (SASP), FCERI mediated NF-kB activation, DEx/H-box helicases activate type I IFN and inflammatory cytokines production , PKMTs methylate histone lysines, TAK1 activates NFkB by phosphorylation and activation of IKKs complex, Interleukin-1 processing, IkBA variant leads to EDA-ID, CLEC7A (Dectin-1) signaling, CD209 (DC-SIGN) signaling, CLEC7A/inflammasome pathway, MAP3K8 (TPL2)-dependent MAPK1/3 activation, Neutrophil degranulation, The NLRP3 inflammasome, Transcriptional Regulation by VENTX, Interleukin-1 signaling, TRAF6 mediated NF-kB activation, HCMV Early Events, Purinergic signaling in leishmaniasis infection |
Immunodeficiency, Adenocarcinoma, Diabetes Mellitus , Meniere Disease, Kidney Failure, Biliary Cirrhosis, Psoriasis, Liver Diseases, Spondylitis, Colitis, Kidney Insufficiency, Mood Disorders, Carcinoma, Cerebral Ischemia, Cholangitis, Colonic Neoplasms, Oxalosis, Ovarian Cysts, Hyperoxaluria, Corpus Luteum Cyst, Cribriform Carcinoma, Crohn Disease, PCOS, Obstructive Sleep Apnea, Preeclampsia
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| PAX6 |
Paired box 6 |
Signaling pathways regulating pluripotency of stem cells, Maturity onset diabetes of the young, Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1), Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) |
Aniridia, Cataract, Axenfeld-Rieger Syndrome, Intellectual Disability, Irido-corneo-trabecular dysgenesis, Anencephaly, Foveal Hypoplasia, Optic Disk Disorders, Congenital ocular coloboma, Foster-Kennedy Syndrome, Prostate cancer, Odontome, Diabetes Mellitus , Gastric Cancer, Autistic Disorder, Drachtman Weinblatt Sitarz syndrome, Schizophrenia, Stomach Cancer, Morning Glory Anomaly, Anterior Segment Dysgenesis, PCOS, Gluocose Intolerance
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| PGR |
Progesterone receptor |
Oocyte meiosis, Progesterone-mediated oocyte maturation, Estrogen signaling pathway, Breast cancer, Nuclear signaling by ERBB4, HSP90 chaperone cycle for steroid hormone receptors (SHR), Nuclear Receptor transcription pathway, SUMOylation of intracellular receptors, Estrogen-dependent gene expression |
Endometrial Cancer, Meningioma, Adenocarcinoma, Breast Cancer, Carcinoma, Endometriosis, Mesothelioma, Endometrioma, Anaplastic Carcinoma, Cribriform Carcinoma, PCOS
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| PPARD |
Peroxisome proliferator activated receptor delta |
PPAR signaling pathway, Wnt signaling pathway, Pathways in cancer, Acute myeloid leukemia, Carnitine metabolism, Regulation of pyruvate dehydrogenase (PDH) complex, Nuclear Receptor transcription pathway, Signaling by Retinoic Acid |
Cardiomyopathy, Alcoholic fatty liver, Obesity, Skin Cancer, Neuropathy, Non-alcoholic Fatty Liver Disease, Gout, Fatty Liver, Myocardial Diseases, Bipolar Disorder, PCOS
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| PPARG |
Peroxisome proliferator activated receptor gamma |
PPAR signaling pathway, AMPK signaling pathway, Longevity regulating pathway, Osteoclast differentiation, Thermogenesis, Huntington disease, Pathways in cancer, Transcriptional misregulation in cancer, Thyroid cancer, PPARA activates gene expression, Transcriptional regulation of white adipocyte differentiation, Nuclear Receptor transcription pathway, Regulation of PTEN gene transcription |
Stomach Cancer, Pancreatic Neoplasm, Alzheimer Disease, Pustulosis, Thyroid Cancer, Diabetes Mellitus , Lipodystrophy, Chronobiology Disorders, Gastric Cancer, Hypertensive disease, Kidney Insufficiency, Liver Cancer, Polycystic Kidney Diseases, Colorectal Cancer, Cribriform Carcinoma, Heart Failure, Glomerulonephritis, Adenocarcinoma, Antiphospholipid Syndrome, Dyslipidemias, Liver Diseases, Kidney Failure, Obesity, Circadian Rhythm Disorders, Leukostasis, Colonic Neoplasms, Psoriasis, Barrett Esophagus, Nephritis, Crohn Disease, Carcinoma, Arthritis, Lipoidosis, Barrett Epithelium, Mood Disorders, Senile Dementia, Schizophrenia, Diabetic Nephropathy, Myocardial Failure, Metabolic Diseases, Enteritis, Cushing Syndrome, Lymphoma, Atherosclerosis, Colitis, Glomerulosclerosis, Osteoarthrosis Deformans, PCOS, Obstructive Sleep Apnea, Gluocose Intolerance
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| PTH |
Parathyroid hormone |
Neuroactive ligand-receptor interaction, Parathyroid hormone synthesis, secretion and action, Endocrine and other factor-regulated calcium reabsorption, Rheumatoid arthritis, Class B/2 (Secretin family receptors), G alpha (s) signalling events, ADORA2B mediated anti-inflammatory cytokines production |
Hyperphosphatemia, Hyperparathyroidism, Milk-Alkali Syndrome, Hypercalcemia, Hypoparathyroidism, Hypocalcemia, Osteoporosis, Hypertensive disease, Basal Cell Nevus Syndrome, Hyperostosis, Anemia, Heart Failure, Rickets, Myocardial Failure, Uremia, Bone Diseases, Endocrine, PCOS
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| SREBF1 |
Sterol regulatory element binding transcription factor 1 |
AMPK signaling pathway, Insulin signaling pathway, Insulin resistance, Non-alcoholic fatty liver disease (NAFLD), RORA activates gene expression, Regulation of cholesterol biosynthesis by SREBP (SREBF), PPARA activates gene expression, Activation of gene expression by SREBF (SREBP), NR1H2 & NR1H3 regulate gene expression linked to lipogenesis |
Liver Cancer, Obesity, Kidney Failure, Diabetes Mellitus , Parkinson Disease, Breast Cancer, Fatty Liver, Non-alcoholic Fatty Liver Disease, Schizophrenia, PCOS, Obstructive Sleep Apnea, Gluocose Intolerance
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| SRF |
Serum response factor |
MAPK signaling pathway, cGMP-PKG signaling pathway, Human T-cell leukemia virus 1 infection, Viral carcinogenesis, RHO GTPases Activate Formins, NGF-stimulated transcription, Estrogen-dependent nuclear events downstream of ESR-membrane signaling |
Fetal Alcohol Syndrome, HIV Infections, HIV Coinfection, PCOS
|
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| STAT3 |
Signal transducer and activator of transcription 3 |
EGFR tyrosine kinase inhibitor resistance, Chemokine signaling pathway, HIF-1 signaling pathway, FoxO signaling pathway, Necroptosis, Signaling pathways regulating pluripotency of stem cells, JAK-STAT signaling pathway, Th17 cell differentiation, Prolactin signaling pathway, Adipocytokine signaling pathway, Insulin resistance, AGE-RAGE signaling pathway in diabetic complications, Toxoplasmosis, Hepatitis C, Hepatitis B, Measles, Human cytomegalovirus infection, Kaposi sarcoma-associated herpesvirus infection, Epstein-Barr virus infection, Pathways in cancer, Viral carcinogenesis, Proteoglycans in cancer, MicroRNAs in cancer, Pancreatic cancer, Acute myeloid leukemia, Non-small cell lung cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Inflammatory bowel disease (IBD), Interleukin-6 signaling, BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members, Interleukin-7 signaling, Signaling by SCF-KIT, Signaling by cytosolic FGFR1 fusion mutants, Downstream signal transduction, Senescence-Associated Secretory Phenotype (SASP), POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation, Transcriptional regulation of pluripotent stem cells, Interleukin-10 signaling, Interleukin-4 and Interleukin-13 signaling, PTK6 Activates STAT3, Interleukin-20 family signaling, MET activates STAT3, Interleukin-15 signaling, Interleukin-35 Signalling, Interleukin-9 signaling, Interleukin-37 signaling, Interleukin-23 signaling, Interleukin-27 signaling, Interleukin-21 signaling, Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants, Signaling by PDGFRA extracellular domain mutants |
Cardiomyopathy, Adenocarcinoma, Lung Cancer, Genetic Diseases, Hyperimmunoglobulin E syndrome, Spondylitis, Carcinoma, Multiple Sclerosis, Medulloblastoma, Inflammatory Bowel Diseases, Dermatitis, Leukemia, Head Neoplasms, Stomach Cancer, Cerebral Ischemia, Cerebral Artery Infarction, Ketosis-prone diabetes, Prostate cancer, Memory Disorders, Crohn Disease, Ovarian Cancer, Brain Infarction, Colitis, Middle Cerebral Artery Syndrome, Diabetes Mellitus , Pancreatic Neoplasm, Anaplastic Carcinoma, Meniere Disease, Autoimmune Diseases, Psoriasis, Juvenile arthritis, Cerebral Thrombosis, Craniosynostosis, Endometrial Cancer, Liver Cancer, Lymphoma, Still Disease, Chronic hepatitis, Breast Cancer, Brittle diabetes, Pustulosis, Atherosclerosis, Cholangitis, Cancer Metastasis, Mental Depression, Autoimmune Diabetes, Myocardial Diseases, Cervical Cancer, Myeloid Leukemia, Congenital diaphragmatic hernia, Liver Cirrhosis, Asthma, Colonic Neoplasms, Cribriform Carcinoma, Gastric Cancer, PCOS
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| DNA-binding transcription factor activity, RNA polymerase II-specific |
| TCF4 |
Transcription factor 4 |
Myogenesis |
Pitt-Hopkins Syndrome, Atonic seizures, Intellectual Disability, Neurodevelopmental Disorders, Heart Diseases, Bipolar Disorder, Seizures, Liver Cancer, Schizophrenia, Genetic Diseases, Autistic Disorder, Attention Deficit Disorder, Microcephaly, Non-organic psychosis, Microlissencephaly, Fuchs Endothelial Dystrophy, Neuropathy, Cholangitis, Paranoia, Psychosis, Mental Depression, Jacksonian Seizure, PCOS, Gluocose Intolerance
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| DNA-binding transcription factor activity, RNA polymerase II-specific |
| HNF1A |
HNF1 homeobox A |
Maturity onset diabetes of the young |
Diabetes Insipidus , Diabetes Mellitus , Hypoglycemia, Coronary heart disease, Monogenic Diabetes, Pancreatic Neoplasm, Arteriosclerosis, Ischemic Cardiomyopathy, Myocardial Infarction, Hyperinsulinism, PCOS
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| DNA-binding transcription factor activity, RNA polymerase II-specific |
| TCF7L2 |
Transcription factor 7 like 2 |
Wnt signaling pathway, Hippo signaling pathway, Adherens junction, Melanogenesis, Cushing syndrome, Human papillomavirus infection, Pathways in cancer, Colorectal cancer, Endometrial cancer, Prostate cancer, Thyroid cancer, Basal cell carcinoma, Acute myeloid leukemia, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Arrhythmogenic right ventricular cardiomyopathy (ARVC), Formation of the beta-catenin:TCF transactivating complex, Deactivation of the beta-catenin transactivating complex, Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1), Ca2+ pathway, Binding of TCF/LEF:CTNNB1 to target gene promoters, Repression of WNT target genes, TCF7L2 mutants don't bind CTBP, Transcriptional Regulation by VENTX, RUNX3 regulates WNT signaling |
Diabetes Mellitus , Metabolic Syndrome X, Adenocarcinoma, Still Disease, Schizophrenia, Stroke, Breast Cancer, Bipolar Disorder, Schizoaffective Disorder, Juvenile arthritis, Colorectal Cancer, Carcinoma, Cribriform Carcinoma, Heart Failure, Coronary heart disease, Arteriosclerosis, Atrial Fibrillation, Neurodevelopmental Disorders, Colonic Neoplasms, Adenocarcinoma Of Large Intestine, PCOS, Obstructive Sleep Apnea, Gluocose Intolerance
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| DNA-binding transcription factor activity, RNA polymerase II-specific |
| TP53 |
Tumor protein p53 |
Endocrine resistance, Platinum drug resistance, MAPK signaling pathway, Sphingolipid signaling pathway, Cell cycle, p53 signaling pathway, Mitophagy - animal, PI3K-Akt signaling pathway, Apoptosis, Longevity regulating pathway, Ferroptosis, Cellular senescence, Wnt signaling pathway, Neurotrophin signaling pathway, Thyroid hormone signaling pathway, Amyotrophic lateral sclerosis (ALS), Huntington disease, Hepatitis C, Hepatitis B, Measles, Human cytomegalovirus infection, Human papillomavirus infection, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Pathways in cancer, Transcriptional misregulation in cancer, Viral carcinogenesis, Proteoglycans in cancer, MicroRNAs in cancer, Colorectal cancer, Pancreatic cancer, Endometrial cancer, Glioma, Prostate cancer, Thyroid cancer, Basal cell carcinoma, Melanoma, Bladder cancer, Chronic myeloid leukemia, Small cell lung cancer, Non-small cell lung cancer, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Central carbon metabolism in cancer, Fluid shear stress and atherosclerosis, Activation of NOXA and translocation to mitochondria, Activation of PUMA and translocation to mitochondria, Pre-NOTCH Transcription and Translation, Oxidative Stress Induced Senescence, Formation of Senescence-Associated Heterochromatin Foci (SAHF), Oncogene Induced Senescence, DNA Damage/Telomere Stress Induced Senescence, SUMOylation of transcription factors, Autodegradation of the E3 ubiquitin ligase COP1, TP53 Regulates Metabolic Genes, Ub-specific processing proteases, Ovarian tumor domain proteases, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, Interleukin-4 and Interleukin-13 signaling, TP53 Regulates Transcription of DNA Repair Genes, TP53 Regulates Transcription of Genes Involved in Cytochrome C Release, TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain, TP53 Regulates Transcription of Caspase Activators and Caspases, TP53 Regulates Transcription of Death Receptors and Ligands, TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest, TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain, TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest, Regulation of TP53 Expression, Regulation of TP53 Activity through Phosphorylation, Regulation of TP53 Degradation, Regulation of TP53 Activity through Acetylation, Regulation of TP53 Activity through Association with Co-factors, Regulation of TP53 Activity through Methylation, PI5P Regulates TP53 Acetylation, G2/M DNA damage checkpoint, G2/M Checkpoints, Stabilization of p53, Transcriptional activation of cell cycle inhibitor p21 , The role of GTSE1 in G2/M progression after G2 checkpoint, Transcriptional Regulation by VENTX, RUNX3 regulates CDKN1A transcription, Regulation of PTEN gene transcription |
Ovarian Cancer, Glioma, Li-Fraumeni Syndrome, Breast Cancer, Prostate cancer, Genital Neoplasms, Male, Heriditary Neoplastic Syndrome, Colonic Neoplasms, Adrenal Cancer, Renal Cancer, Leukemia, Lung Cancer, Bladder Cancer, Nasopharyngeal Cancer, Carcinoma, Moyamoya disease, Cardiomyopathy, Stomach Cancer, Nephroblastoma, Colorectal Cancer, Adenocarcinoma, Central Nervous System Neoplasms, Intestinal Cancer, Thymoma, Thyroid Cancer, Endometrial Cancer, Osteosarcoma, Chromosome 17p Deletion Syndrome, Intrahepatic Cholangiocarcinoma, Liver Cancer, Head Neoplasms, Choroid Plexus Carcinoma, Lymphoma, Neuroblastoma, Choroid Plexus Papilloma, Male infertility, Demyelinating Diseases, Adenoma, Gall Bladder Cancer, Cribriform Carcinoma, Keratosis, Extrahepatic Cholangiocarcinoma, Sarcoma, Brain Stem Glioma, Adenocarcinoma of Prostate, Gastric Cancer, Mouth Neoplasms, Glioblastoma Multiforme, Esophagus Neoplasm, Anemia, Pancreatic Neoplasm, Genitourinary Cancer, Ctaneous Melanoma, Medulloblastoma, Arsenic Encephalopathy, Airway Obstruction, Carotid Artery Diseases, Psoriasis, Kidney Insufficiency, Hypertensive disease, Liver Diseases, Lateral Sclerosis, Multiple Myeloma, Hepatoblastoma, Bilateral Wilms Tumor, Head and Neck Neoplasms, Myelodysplastic Syndrome, Skin Cancer, Adenocarcinoma Of Pancreas, Adenoid Cystic Carcinoma, Chronic Obstructive Pulmonary Disease, Astrocytoma, Pustulosis, Balkan Nephropathy, Cerebral Ischemia, Leukemia, megakaryoblastic, of Down syndrome, Vulvar Lichen Sclerosus, Carotid Atherosclerosis, Subfertility, Female, Kidney Failure, Cholangiocarcinoma, Hematologic Neoplasms, Schizophrenia, Anaplastic Carcinoma, Glioblastoma, Urinary Tract Cancer, Brain Neoplasms, Hemangioma, Carcinoma of Skin, PCOS, Vulvar Cancer, Preeclampsia
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| DNA-binding transcription factor activity, RNA polymerase II-specific |
| VDR |
Vitamin D receptor |
Parathyroid hormone synthesis, secretion and action, Endocrine and other factor-regulated calcium reabsorption, Mineral absorption, Tuberculosis, Vitamin D (calciferol) metabolism, Nuclear Receptor transcription pathway, SUMOylation of intracellular receptors |
Breast Cancer, Carcinoma, Rickets, Narcolepsy, Schizophrenia, Multiple Sclerosis, Hypertensive disease, Brain Infarction, Single-Gene Defects, Alopecia, Epilepsy, Hereditary Diseases, Vitamin D Deficiency, Bipolar Disorder, Prostate cancer, Genetic Diseases, Uremia, Choroidal Artery Infarction, Leukemia, Gout, PCOS, Obstructive Sleep Apnea, Gluocose Intolerance, Preeclampsia
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| DNA-binding transcription factor activity, RNA polymerase II-specific |
| WT1 |
WT1 transcription factor |
Transcriptional misregulation in cancer |
Osteosarcoma, WAGR Syndrome, Denys-Drash Syndrome, Frasier Syndrome, Diffuse mesangial sclerosis, Lung Cancer, Glioblastoma, Glomerulonephritis, Meacham Syndrome, Myeloid Leukemia, Nephroblastoma, Pancreatic Neoplasm, Congenital diaphragmatic hernia, Leukemia, Gonadotropin-Resistant Ovary Syndrome, Anemia, Mesothelioma, Glioblastoma Multiforme, Colonic Neoplasms, Breast Cancer, Peritoneal Neoplasms, Ovarian Failure, Nephritis, Bilateral Wilms Tumor, Neurilemmoma, Nephrotic Syndrome, Schwannomatosis, Malignant Peripheral Nerve Sheath Tumor, PCOS
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| DNA-binding transcription factor activity, RNA polymerase II-specific |
| CLOCK |
Clock circadian regulator |
Circadian rhythm, Dopaminergic synapse, BMAL1:CLOCK,NPAS2 activates circadian gene expression |
Bipolar Disorder, Mental Depression, Seasonal Affective Disorder, Mood Disorders, Schizophrenia, Delirium, PCOS
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| DNA-binding transcription factor activity, RNA polymerase II-specific |
| TOX3 |
TOX high mobility group box family member 3 |
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Breast Cancer, Liver Cancer, Breast Cancer,Male, PCOS
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| DNA-binding transcription factor activity, RNA polymerase II-specific |
| ZNF410 |
Zinc finger protein 410 |
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Kidney Failure, Breast Cancer, Pulmonary Tuberculosis, Vitiligo, Systemic Lupus Erythematosus, Diabetes Mellitus , Liver Diseases, Autoimmune Diseases, PCOS
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