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This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009]
[中文简述(自动翻译):]  该基因编码参与由氧,氧水平下降而被诱导调控的基因的诱导的转录因子。所编码的蛋白质包含一个碱性螺旋 - 环 - 螺旋结构域蛋白的二聚化结构域以及在信号转导途径其中氧气含量做出反应蛋白质中发现的域。在这个基因的突变与[由RefSeq的,2009年11月提供]红细胞增多症家族型4相关
EPAS1基因(以及对应的蛋白质)的细胞分布位置:
EPAS1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Erythrocytosis, Familial, 4 | 0.36 | 4 | 2 | CLINVAR_CTD_human_UNIPROT |
Renal Cell Carcinoma | 0.332701686 | 22 | 3 | BeFree_CTD_human_GAD_GWASCAT_LHGDN_RGD |
Neoplastic Cell Transformation | 0.12 | 1 | 0 | CTD_human |
Chromosome Aberrations | 0.12 | 1 | 0 | CTD_human |
Pulmonary Hypertension | 0.083181358 | 5 | 0 | BeFree_GAD_RGD |
Bronchopulmonary Dysplasia | 0.08 | 1 | 0 | RGD |
Diabetes Mellitus, Non-Insulin-Dependent | 0.08 | 1 | 0 | RGD |
Diabetic Nephropathy | 0.08 | 2 | 0 | RGD |
Hyperglycemia | 0.08 | 1 | 0 | RGD |
Infarction | 0.08 | 1 | 0 | RGD |
Intermittent Claudication | 0.08 | 1 | 0 | RGD |
Polycystic Kidney Diseases | 0.08 | 1 | 0 | RGD |
Myocardial Infarction | 0.08 | 2 | 0 | RGD |
Neuritis, Autoimmune, Experimental | 0.08 | 1 | 0 | RGD |
Respiratory Distress Syndrome In Premature Infants | 0.08 | 0 | 0 | MGD |
Acute kidney injury | 0.08 | 1 | 0 | RGD |
Anoxia | 0.018713133 | 7 | 0 | GAD_LHGDN |
Polycythemia | 0.009348576 | 18 | 1 | BeFree_GAD |
Liver carcinoma | 0.008967513 | 24 | 0 | BeFree_LHGDN |
Adenocarcinoma | 0.008715934 | 5 | 0 | BeFree_LHGDN |
Altitude Sickness | 0.007372538 | 4 | 0 | BeFree_GAD |
Glioma | 0.005720142 | 3 | 0 | BeFree_LHGDN |
Kidney Neoplasm | 0.005634266 | 4 | 0 | BeFree_GAD_LHGDN |
Prostatic Neoplasms | 0.0054487 | 2 | 0 | LHGDN |
Neuroblastoma | 0.00408156 | 6 | 0 | BeFree_LHGDN |
Degenerative polyarthritis | 0.003810118 | 5 | 0 | BeFree_LHGDN |
Paraganglioma | 0.003257302 | 12 | 0 | BeFree |
Carcinogenesis | 0.003257302 | 12 | 0 | BeFree |
Lymphoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
melanoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Acute lymphocytic leukemia | 0.002985861 | 11 | 0 | BeFree |
Retinopathy of Prematurity | 0.002909916 | 2 | 0 | BeFree_GAD |
Rheumatoid Arthritis | 0.00272435 | 1 | 0 | LHGDN |
Astrocytoma | 0.00272435 | 1 | 0 | LHGDN |
Uterine Cervical Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Colonic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Head and Neck Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Psoriasis | 0.00272435 | 1 | 0 | LHGDN |
Choroidal Neovascularization | 0.00272435 | 1 | 0 | LHGDN |
Mammary Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Erythrocytosis | 0.002714419 | 10 | 1 | BeFree |
Neoplasm Metastasis | 0.002442977 | 9 | 0 | BeFree |
Pheochromocytoma | 0.002442977 | 9 | 0 | BeFree |
Conventional (Clear Cell) Renal Cell Carcinoma | 0.002442977 | 9 | 0 | BeFree |
Coronary heart disease | 0.002367032 | 1 | 1 | GAD |
Precursor B-cell lymphoblastic leukemia | 0.002171535 | 8 | 0 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.002171535 | 8 | 0 | BeFree |
leukemia | 0.001900093 | 7 | 0 | BeFree |
Von Hippel-Lindau Syndrome | 0.001357209 | 5 | 0 | BeFree |
Familial erythrocytosis | 0.001357209 | 5 | 1 | BeFree |
Solid tumour | 0.001357209 | 5 | 0 | BeFree |
Breast Carcinoma | 0.001357209 | 5 | 0 | BeFree |
Central neuroblastoma | 0.001357209 | 5 | 0 | BeFree |
Malignant neoplasm of breast | 0.001085767 | 4 | 0 | BeFree |
Malignant tumor of colon | 0.001085767 | 4 | 0 | BeFree |
Somatostatinoma | 0.001085767 | 4 | 0 | BeFree |
Tumor Progression | 0.001085767 | 4 | 0 | BeFree |
Pancreatic carcinoma | 0.001085767 | 4 | 0 | BeFree |
Leukemogenesis | 0.001085767 | 4 | 0 | BeFree |
Colon Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Renal carcinoma | 0.001085767 | 4 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Colorectal Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Liver neoplasms | 0.000814326 | 3 | 0 | BeFree |
Ovarian Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of kidney | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000814326 | 3 | 0 | BeFree |
Colorectal Cancer | 0.000814326 | 3 | 0 | BeFree |
Anemia | 0.000542884 | 2 | 0 | BeFree |
Glioblastoma | 0.000542884 | 2 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000542884 | 2 | 0 | BeFree |
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000542884 | 2 | 1 | BeFree |
Hepatoblastoma | 0.000542884 | 2 | 0 | BeFree |
Iron deficiency | 0.000542884 | 2 | 0 | BeFree |
Liver and Intrahepatic Biliary Tract Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of liver | 0.000542884 | 2 | 0 | BeFree |
Osteoarthritis, Knee | 0.000542884 | 2 | 1 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000542884 | 2 | 0 | BeFree |
Stomach Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Non-Hereditary Clear Cell Renal Cell Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Pancreatic Somatostatinoma | 0.000542884 | 2 | 0 | BeFree |
Tumor Angiogenesis | 0.000542884 | 2 | 0 | BeFree |
Glioblastoma Multiforme | 0.000542884 | 2 | 0 | BeFree |
Triple Negative Breast Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Anemia, Sickle Cell | 0.000271442 | 1 | 0 | BeFree |
Bladder Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Burkitt Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Brain Ischemia | 0.000271442 | 1 | 0 | BeFree |
Chondrosarcoma | 0.000271442 | 1 | 0 | BeFree |
Congenital chromosomal disease | 0.000271442 | 1 | 0 | BeFree |
Cyst | 0.000271442 | 1 | 0 | BeFree |
Hypercalcemia | 0.000271442 | 1 | 0 | BeFree |
Myeloid Leukemia | 0.000271442 | 1 | 0 | BeFree |
Myeloid Leukemia, Chronic | 0.000271442 | 1 | 0 | BeFree |
Chronic Obstructive Airway Disease | 0.000271442 | 1 | 0 | BeFree |
Lymphatic Metastasis | 0.000271442 | 1 | 0 | BeFree |
Osteosarcoma | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Emphysema | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
Respiratory Distress Syndrome, Adult | 0.000271442 | 1 | 0 | BeFree |
Unipolar Depression | 0.000271442 | 1 | 0 | BeFree |
Varicosity | 0.000271442 | 1 | 0 | BeFree |
Small cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Renal fibrosis | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 1 | BeFree |
Neoplasm, Residual | 0.000271442 | 1 | 0 | BeFree |
Carcinoma, Lewis Lung | 0.000271442 | 1 | 0 | BeFree |
Renal glomerular disease | 0.000271442 | 1 | 0 | BeFree |
Erythrocytosis due to low atmospheric pressure | 0.000271442 | 1 | 0 | BeFree |
Iron Overload | 0.000271442 | 1 | 0 | BeFree |
Peroxisomal Disorders | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of colon | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Multiple renal cysts | 0.000271442 | 1 | 0 | BeFree |
Malignant Glioma | 0.000271442 | 1 | 0 | BeFree |
Osteosarcoma of bone | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 1 | BeFree |
Cancer of Neck | 0.000271442 | 1 | 0 | BeFree |
early pregnancy | 0.000271442 | 1 | 0 | BeFree |
Renal ischaemia | 0.000271442 | 1 | 0 | BeFree |
Major Depressive Disorder | 0.000271442 | 1 | 0 | BeFree |
Inflammatory disorder | 0.000271442 | 1 | 0 | BeFree |
Pancreatic intraepithelial neoplasia | 0.000271442 | 1 | 0 | BeFree |
Angiogenic Switch | 0.000271442 | 1 | 0 | BeFree |
Non-Neoplastic Disorder | 0.000271442 | 1 | 0 | BeFree |
Carney Triad | 0.000271442 | 1 | 0 | BeFree |
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