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This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码与所述第一发现血型系统,ABO蛋白质。其中等位基因是存在于个体确定血型。的“O”血型通过缺失鸟嘌呤-258的这导致几乎完全不同的蛋白质的移码和翻译的蛋白质的N-末端附近引起的。个人与转换H抗原为A或B抗原A,B和AB等位基因表达糖基转移酶的活动。其他小的等位基因已被发现了这种基因。 [由RefSeq的,2008年7月提供]
ABO基因(以及对应的蛋白质)的细胞分布位置:
ABO基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Coronary Artery Disease | 0.248458305 | 7 | 2 | BeFree_CTD_human_GAD_GWASCAT |
Duodenal Ulcer | 0.243452799 | 4 | 1 | BeFree_CTD_human_GAD_GWASCAT |
Malaria | 0.130358398 | 16 | 2 | BeFree_GAD_GWASCAT |
Pancreatic Neoplasm | 0.129468128 | 4 | 4 | CTD_human_GAD |
Venous Thromboembolism | 0.129468128 | 8 | 5 | GAD_GWASCAT |
Malignant neoplasm of pancreas | 0.127795869 | 21 | 2 | BeFree_GAD_GWASCAT |
Graves Disease | 0.122638474 | 2 | 1 | BeFree_GAD_GWASCAT |
Obesity | 0.120814326 | 3 | 2 | BeFree_GWASCAT |
Intraocular pressure disorder | 0.120271442 | 1 | 5 | BeFree_GWASCAT |
Epithelial ovarian cancer | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Prostatic Neoplasms | 0.12 | 1 | 0 | CTD_human |
Myocardial Infarction | 0.021379233 | 14 | 0 | BeFree_GAD |
Malaria, Falciparum | 0.012920927 | 8 | 0 | BeFree_GAD |
Venous Thrombosis | 0.009468128 | 4 | 1 | GAD |
Coronary Arteriosclerosis | 0.008186863 | 7 | 0 | BeFree_GAD |
leukemia | 0.008001298 | 3 | 0 | BeFree_GAD_LHGDN |
Asthma | 0.007915422 | 5 | 0 | BeFree_GAD |
Hemorrhage | 0.007101096 | 3 | 0 | GAD |
Thrombosis | 0.007101096 | 3 | 0 | GAD |
Diabetes Mellitus, Insulin-Dependent | 0.005819831 | 6 | 0 | BeFree_GAD |
Pancreatic carcinoma | 0.005157396 | 19 | 1 | BeFree |
alpha-Thalassemia | 0.004734064 | 2 | 0 | GAD |
Brain Ischemia | 0.004734064 | 2 | 0 | GAD |
Alkaline Phosphatase Adverse Event | 0.004734064 | 2 | 2 | GAD |
Malignant neoplasm of breast | 0.004267125 | 7 | 1 | BeFree_GAD |
Deficiency of glucose-6-phosphate dehydrogenase | 0.003995683 | 7 | 0 | BeFree_GAD |
Cardiovascular Diseases | 0.003452799 | 5 | 1 | BeFree_GAD |
Graft-vs-Host Disease | 0.003452799 | 5 | 0 | BeFree_GAD |
Squamous cell carcinoma | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Carcinoma, Transitional Cell | 0.003267234 | 2 | 0 | BeFree_LHGDN |
von Willebrand Disease | 0.003181358 | 3 | 0 | BeFree_GAD |
Sickle Cell Trait | 0.002909916 | 3 | 0 | BeFree_GAD |
Cerebrovascular accident | 0.002909916 | 2 | 0 | BeFree_GAD |
Stomach Carcinoma | 0.002714419 | 10 | 0 | BeFree |
Crohn Disease | 0.002638474 | 2 | 0 | BeFree_GAD |
Mucocutaneous Lymph Node Syndrome | 0.002638474 | 2 | 0 | BeFree_GAD |
Tuberculosis | 0.002638474 | 2 | 0 | BeFree_GAD |
Thrombophilia | 0.002638474 | 2 | 0 | BeFree_GAD |
Cystic Fibrosis | 0.002367032 | 1 | 0 | GAD |
Mental Depression | 0.002367032 | 1 | 1 | GAD |
Elliptocytosis, Hereditary | 0.002367032 | 1 | 0 | GAD |
Fatty Liver | 0.002367032 | 1 | 0 | GAD |
Heart failure | 0.002367032 | 1 | 0 | GAD |
Hemorrhagic Disorders | 0.002367032 | 1 | 0 | GAD |
Liver Cirrhosis, Alcoholic | 0.002367032 | 1 | 0 | GAD |
Pharyngeal Diseases | 0.002367032 | 1 | 0 | GAD |
Pregnancy Complications, Cardiovascular | 0.002367032 | 1 | 0 | GAD |
Pseudomonas Infections | 0.002367032 | 1 | 0 | GAD |
Stomatitis | 0.002367032 | 1 | 0 | GAD |
Helicobacter Infections | 0.002367032 | 1 | 0 | GAD |
Intracranial Hemorrhages | 0.002367032 | 1 | 0 | GAD |
Psoriasis vulgaris | 0.002367032 | 1 | 0 | GAD |
Inflammatory disease of mucous membrane | 0.002367032 | 1 | 0 | GAD |
Hematocrit level | 0.002367032 | 1 | 1 | GAD |
Metabolic Syndrome X | 0.002367032 | 1 | 0 | GAD |
Attention deficit hyperactivity disorder | 0.002367032 | 1 | 0 | GAD |
DNA Degradation, Necrotic | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of stomach | 0.002171535 | 8 | 0 | BeFree |
Diabetes Mellitus | 0.001900093 | 7 | 0 | BeFree |
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site | 0.001900093 | 7 | 0 | BeFree |
Breast Carcinoma | 0.001900093 | 7 | 1 | BeFree |
Coronary heart disease | 0.001628651 | 6 | 0 | BeFree |
Blood Group Incompatibility | 0.001085767 | 4 | 0 | BeFree |
Hyperbilirubinemia | 0.001085767 | 4 | 0 | BeFree |
Peptic Ulcer | 0.001085767 | 4 | 0 | BeFree |
Mood Disorders | 0.001085767 | 4 | 0 | BeFree |
Helicobacter pylori infection | 0.001085767 | 4 | 0 | BeFree |
Ischemic stroke | 0.001085767 | 4 | 0 | BeFree |
Ischemic Cerebrovascular Accident | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of urinary bladder | 0.000814326 | 3 | 0 | BeFree |
Diabetes | 0.000814326 | 3 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000814326 | 3 | 0 | BeFree |
Hypertensive disease | 0.000814326 | 3 | 0 | BeFree |
Neoplasm Metastasis | 0.000814326 | 3 | 2 | BeFree |
Pure Red-Cell Aplasia | 0.000814326 | 3 | 0 | BeFree |
Schizophrenia | 0.000814326 | 3 | 0 | BeFree |
Carcinoma of bladder | 0.000814326 | 3 | 0 | BeFree |
ABO incompatibility | 0.000814326 | 3 | 0 | BeFree |
Congenital Abnormality | 0.000542884 | 2 | 0 | BeFree |
Alcoholic Intoxication, Chronic | 0.000542884 | 2 | 0 | BeFree |
Rheumatoid Arthritis | 0.000542884 | 2 | 0 | BeFree |
Bladder Neoplasm | 0.000542884 | 2 | 0 | BeFree |
Coughing | 0.000542884 | 2 | 0 | BeFree |
Gastritis, Atrophic | 0.000542884 | 2 | 0 | BeFree |
Hay fever | 0.000542884 | 2 | 0 | BeFree |
Hemoglobinopathies | 0.000542884 | 2 | 0 | BeFree |
Hemophilia A | 0.000542884 | 2 | 0 | BeFree |
HIV Infections | 0.000542884 | 2 | 0 | BeFree |
Neonatal Jaundice | 0.000542884 | 2 | 0 | BeFree |
Kidney Diseases | 0.000542884 | 2 | 0 | BeFree |
Lung diseases | 0.000542884 | 2 | 0 | BeFree |
Multiple Myeloma | 0.000542884 | 2 | 0 | BeFree |
Obsessive-Compulsive Disorder | 0.000542884 | 2 | 0 | BeFree |
Paranoid Schizophrenia | 0.000542884 | 2 | 0 | BeFree |
Thromboembolism | 0.000542884 | 2 | 0 | BeFree |
Tuberous Sclerosis | 0.000542884 | 2 | 0 | BeFree |
Vitiligo | 0.000542884 | 2 | 0 | BeFree |
Diffuse Large B-Cell Lymphoma | 0.000542884 | 2 | 0 | BeFree |
Acute leukemia | 0.000542884 | 2 | 0 | BeFree |
Benign Neoplasm | 0.000542884 | 2 | 0 | BeFree |
Esophageal carcinoma | 0.000542884 | 2 | 0 | BeFree |
Liver Failure, Acute | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of lung | 0.000542884 | 2 | 0 | BeFree |
Recurrent urinary tract infection | 0.000542884 | 2 | 0 | BeFree |
Tricho-dento-osseous syndrome (disorder) | 0.000542884 | 2 | 0 | BeFree |
Squamous cell carcinoma of esophagus | 0.000542884 | 2 | 0 | BeFree |
Hematologic Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
Alloimmunisation | 0.000542884 | 2 | 0 | BeFree |
von Willebrand Disease, Type 1 | 0.000542884 | 2 | 0 | BeFree |
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | 0.000542884 | 2 | 0 | BeFree |
Liver carcinoma | 0.000542884 | 2 | 0 | BeFree |
Airway Obstruction | 0.000271442 | 1 | 0 | BeFree |
Anemia | 0.000271442 | 1 | 0 | BeFree |
Anemia, Hemolytic | 0.000271442 | 1 | 0 | BeFree |
Anemia, Sickle Cell | 0.000271442 | 1 | 0 | BeFree |
Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
Atherosclerosis | 0.000271442 | 1 | 0 | BeFree |
Autistic Disorder | 0.000271442 | 1 | 0 | BeFree |
Blood Coagulation Disorders | 0.000271442 | 1 | 0 | BeFree |
Cholera | 0.000271442 | 1 | 0 | BeFree |
Choriocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Coccidioidomycosis | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 2 | BeFree |
Cytomegalovirus Infections | 0.000271442 | 1 | 0 | BeFree |
Epidermodysplasia Verruciformis | 0.000271442 | 1 | 0 | BeFree |
Erythroblastosis, Fetal | 0.000271442 | 1 | 0 | BeFree |
Esophageal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Glaucoma, Open-Angle | 0.000271442 | 1 | 0 | BeFree |
Heart Diseases | 0.000271442 | 1 | 0 | BeFree |
Hemolytic-Uremic Syndrome | 0.000271442 | 1 | 0 | BeFree |
Hepatitis B | 0.000271442 | 1 | 0 | BeFree |
Hypercholesterolemia | 0.000271442 | 1 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Multiple Endocrine Neoplasia Type 1 | 0.000271442 | 1 | 0 | BeFree |
Meningococcal Infections | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Rheumatic Heart Disease | 0.000271442 | 1 | 0 | BeFree |
Gastric ulcer | 0.000271442 | 1 | 0 | BeFree |
Stress, Psychological | 0.000271442 | 1 | 0 | BeFree |
Tuberculosis, Pulmonary | 0.000271442 | 1 | 0 | BeFree |
Urinary tract infection | 0.000271442 | 1 | 0 | BeFree |
Vascular Diseases | 0.000271442 | 1 | 0 | BeFree |
Wheezing | 0.000271442 | 1 | 0 | BeFree |
Gestational Diabetes | 0.000271442 | 1 | 0 | BeFree |
Essential Hypertension | 0.000271442 | 1 | 0 | BeFree |
Pancreatitis, Chronic | 0.000271442 | 1 | 0 | BeFree |
Myocardial Ischemia | 0.000271442 | 1 | 0 | BeFree |
Arterial thrombosis | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of mouth | 0.000271442 | 1 | 0 | BeFree |
Neuroendocrine Tumors | 0.000271442 | 1 | 0 | BeFree |
Lip and Oral Cavity Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Hereditary pancreatitis | 0.000271442 | 1 | 0 | BeFree |
Parasitemia | 0.000271442 | 1 | 0 | BeFree |
Childhood asthma | 0.000271442 | 1 | 0 | BeFree |
Acute gastroenteritis | 0.000271442 | 1 | 0 | BeFree |
Asymptomatic Infections | 0.000271442 | 1 | 0 | BeFree |
Stage III Colon Cancer | 0.000271442 | 1 | 0 | BeFree |
bilateral breast cancer | 0.000271442 | 1 | 0 | BeFree |
Uremia syndrome | 0.000271442 | 1 | 0 | BeFree |
Superficial ulcer | 0.000271442 | 1 | 0 | BeFree |
Impaired cognition | 0.000271442 | 1 | 0 | BeFree |
Glaucoma, Primary Open Angle | 0.000271442 | 1 | 4 | BeFree |
Malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Overweight | 0.000271442 | 1 | 1 | BeFree |
Malignant neoplasm of esophagus | 0.000271442 | 1 | 0 | BeFree |
Factor V Leiden mutation | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of gastrointestinal tract | 0.000271442 | 1 | 0 | BeFree |
Carcinogenicity | 0.000271442 | 1 | 0 | BeFree |
Cerebral Ischemia | 0.000271442 | 1 | 0 | BeFree |
precancerous lesions | 0.000271442 | 1 | 0 | BeFree |
Acute Coronary Syndrome | 0.000271442 | 1 | 1 | BeFree |
Invasive Ductal Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
Sporadic Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cardiomyopathy, Familial Idiopathic | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 2 | BeFree |
Cardioembolic stroke | 0.000271442 | 1 | 0 | BeFree |
Overweight and obesity | 0.000271442 | 1 | 0 | BeFree |
Tendinopathy | 0.000271442 | 1 | 0 | BeFree |
NEUROTICISM | 0.000271442 | 1 | 0 | BeFree |
Myeloid neoplasm | 0.000271442 | 1 | 0 | BeFree |
Stage III Colon Cancer AJCC v7 | 0.000271442 | 1 | 0 | BeFree |
GASTRIC CANCER, INTESTINAL | 0.000271442 | 1 | 0 | BeFree |
Diminished ovarian reserve | 0.000271442 | 1 | 0 | BeFree |
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