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This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的酶的细胞色素P450超家族的成员。细胞色素P450蛋白是能催化涉及药物代谢和胆固醇,类固醇和其他脂类的合成许多反应单加氧酶。此蛋白质定位于内质网和已知代谢许多外源物,包括抗惊厥药美芬妥英,奥美拉唑,地西泮和一些巴比妥。这种基因内多态性与代谢美芬妥变量的能力,被称为弱代谢和广泛的代谢表型相关。该基因位于细胞色素P450基因在染色体10q24群集内。 [由RefSeq的,2008年7月提供]
CYP2C19基因(以及对应的蛋白质)的细胞分布位置:
CYP2C19基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Drug Metabolism, Poor, CYP2C19-Related | 0.24 | 0 | 0 | CTD_human_ORPHANET |
| Cardiovascular Diseases | 0.138197875 | 13 | 0 | BeFree_CTD_human_GAD |
| Thrombosis | 0.129468128 | 4 | 0 | CTD_human_GAD |
| Drug-Induced Liver Injury | 0.124734064 | 3 | 0 | CTD_human_GAD |
| Prostatic Neoplasms | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
| Ovarian Failure, Premature | 0.122638474 | 1 | 0 | BeFree_CTD_human_GAD |
| Kidney Failure, Chronic | 0.120271442 | 1 | 0 | BeFree_CTD_human |
| Acute kidney injury | 0.12 | 1 | 0 | CTD_human |
| Helicobacter pylori infection | 0.052921367 | 50 | 0 | BeFree_GAD |
| Acute Coronary Syndrome | 0.037643339 | 33 | 1 | BeFree_GAD_LHGDN |
| Helicobacter Infections | 0.03550548 | 15 | 0 | GAD |
| Gastroesophageal reflux disease | 0.03073774 | 21 | 0 | BeFree_GAD_LHGDN |
| Myocardial Infarction | 0.028837647 | 17 | 0 | BeFree_GAD_LHGDN |
| Coronary Artery Disease | 0.028165279 | 39 | 0 | BeFree_GAD |
| Malignant neoplasm of lung | 0.021846172 | 11 | 0 | BeFree_GAD |
| Malignant neoplasm of breast | 0.02036941 | 18 | 1 | BeFree_GAD |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.017926433 | 11 | 1 | BeFree_GAD |
| Epilepsy | 0.015906788 | 17 | 0 | BeFree_GAD |
| Malignant neoplasm of urinary bladder | 0.014473634 | 6 | 0 | BeFree_GAD |
| Liver diseases | 0.013192369 | 10 | 0 | BeFree_GAD |
| HIV Infections | 0.012920927 | 8 | 0 | BeFree_GAD |
| Gastric ulcer | 0.012649486 | 5 | 0 | BeFree_GAD |
| Coronary heart disease | 0.012605878 | 30 | 0 | BeFree_GAD |
| Malignant neoplasm of stomach | 0.012378044 | 6 | 0 | BeFree_GAD |
| Peptic Esophagitis | 0.011639663 | 10 | 0 | BeFree_GAD |
| Peptic Ulcer | 0.011639663 | 10 | 0 | BeFree_GAD |
| Multiple Myeloma | 0.010639772 | 5 | 0 | BeFree_GAD_LHGDN |
| Mental Depression | 0.010553895 | 8 | 0 | BeFree_GAD |
| Malignant neoplasm of esophagus | 0.010282454 | 6 | 0 | BeFree_GAD |
| Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site | 0.009771907 | 36 | 0 | BeFree |
| Stomach Diseases | 0.009468128 | 4 | 0 | GAD |
| Cerebrovascular accident | 0.009272631 | 10 | 0 | BeFree_GAD |
| Coronary Arteriosclerosis | 0.008143256 | 30 | 0 | BeFree |
| Colorectal Cancer | 0.007915422 | 6 | 0 | BeFree_GAD |
| Lupus Nephritis | 0.007372538 | 4 | 0 | BeFree_GAD |
| Coronary Thrombosis | 0.007101096 | 3 | 0 | GAD |
| WARFARIN SENSITIVITY (disorder) | 0.007101096 | 3 | 0 | GAD |
| Endometriosis | 0.006091273 | 5 | 0 | BeFree_GAD |
| Duodenal Ulcer | 0.005634266 | 4 | 0 | BeFree_GAD_LHGDN |
| Inflammation | 0.005091382 | 1 | 0 | GAD_LHGDN |
| Rheumatoid Arthritis | 0.005005506 | 2 | 0 | BeFree_GAD |
| Mental disorders | 0.005005506 | 3 | 0 | BeFree_GAD |
| Dyspepsia | 0.005005506 | 2 | 0 | BeFree_GAD |
| Esophagitis | 0.005005506 | 3 | 0 | BeFree_GAD |
| Cancer of Head and Neck | 0.005005506 | 2 | 0 | BeFree_GAD |
| Hematologic Neoplasms | 0.005005506 | 2 | 0 | BeFree_GAD |
| Mammary Neoplasms | 0.005005506 | 3 | 0 | BeFree_GAD |
| Arthritis | 0.004734064 | 2 | 0 | GAD |
| Blood Coagulation Disorders | 0.004734064 | 2 | 0 | GAD |
| Graft Occlusion, Vascular | 0.004734064 | 2 | 0 | GAD |
| Hemorrhage | 0.004734064 | 2 | 0 | GAD |
| Hypercholesterolemia | 0.004734064 | 2 | 0 | GAD |
| Chronic Lymphocytic Leukemia | 0.004734064 | 2 | 0 | GAD |
| Degenerative polyarthritis | 0.004734064 | 2 | 0 | GAD |
| Periodontitis | 0.004734064 | 2 | 0 | GAD |
| Systemic Scleroderma | 0.004734064 | 2 | 0 | GAD |
| Lichen Planus, Oral | 0.004734064 | 2 | 0 | GAD |
| Systemic arterial pressure | 0.004734064 | 2 | 0 | GAD |
| MYELODYSPLASTIC SYNDROME | 0.004734064 | 2 | 0 | GAD |
| Breast Carcinoma | 0.003800186 | 14 | 0 | BeFree |
| Lupus Erythematosus, Systemic | 0.003452799 | 4 | 0 | BeFree_GAD |
| Hypertensive disease | 0.003181358 | 4 | 1 | BeFree_GAD |
| Liver Cirrhosis | 0.003181358 | 3 | 0 | BeFree_GAD |
| Seizures | 0.003181358 | 4 | 0 | BeFree_GAD |
| Atherosclerosis | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Angina, Unstable | 0.002909916 | 2 | 2 | BeFree_GAD |
| Gastritis | 0.002909916 | 3 | 0 | BeFree_GAD |
| Schizophrenia | 0.002909916 | 2 | 0 | BeFree_GAD |
| End Stage Liver Disease | 0.002909916 | 2 | 0 | BeFree_GAD |
| Bladder Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
| Esophageal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Lung Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Stomach Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Anemia, Sickle Cell | 0.002638474 | 1 | 0 | BeFree_GAD |
| Behcet Syndrome | 0.002638474 | 1 | 0 | BeFree_GAD |
| Obesity | 0.002638474 | 2 | 0 | BeFree_GAD |
| Myocardial Ischemia | 0.002638474 | 2 | 0 | BeFree_GAD |
| Atrial Fibrillation | 0.002367032 | 1 | 0 | GAD |
| Biliary Tract Neoplasm | 0.002367032 | 1 | 0 | GAD |
| Diarrhea | 0.002367032 | 1 | 0 | GAD |
| Digestive System Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Drug Allergy | 0.002367032 | 1 | 0 | GAD |
| Epilepsies, Partial | 0.002367032 | 1 | 0 | GAD |
| Fatty Liver | 0.002367032 | 1 | 0 | GAD |
| Gastrointestinal Hemorrhage | 0.002367032 | 1 | 0 | GAD |
| Gingival Hyperplasia | 0.002367032 | 1 | 0 | GAD |
| Heartburn | 0.002367032 | 1 | 0 | GAD |
| Hematological Disease | 0.002367032 | 1 | 0 | GAD |
| Hepatitis, Toxic | 0.002367032 | 1 | 0 | GAD |
| leukemia | 0.002367032 | 1 | 0 | GAD |
| Myeloid Leukemia | 0.002367032 | 1 | 0 | GAD |
| Liver neoplasms | 0.002367032 | 1 | 0 | GAD |
| Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
| Mesothelioma | 0.002367032 | 1 | 0 | GAD |
| Nausea | 0.002367032 | 1 | 0 | GAD |
| Neoplasms, Germ Cell and Embryonal | 0.002367032 | 1 | 0 | GAD |
| Nephritis, Interstitial | 0.002367032 | 1 | 0 | GAD |
| Neutropenia | 0.002367032 | 1 | 0 | GAD |
| Pleural Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Preleukemia | 0.002367032 | 1 | 0 | GAD |
| Pruritus | 0.002367032 | 1 | 0 | GAD |
| Rhinitis, Allergic, Perennial | 0.002367032 | 1 | 0 | GAD |
| Thrombocytopenia | 0.002367032 | 1 | 0 | GAD |
| Tuberculosis, Pulmonary | 0.002367032 | 1 | 0 | GAD |
| Vomiting | 0.002367032 | 1 | 0 | GAD |
| T-Cell Lymphoma | 0.002367032 | 1 | 0 | GAD |
| Liver Failure | 0.002367032 | 1 | 0 | GAD |
| Deep Vein Thrombosis | 0.002367032 | 1 | 0 | GAD |
| Personality Traits | 0.002367032 | 1 | 0 | GAD |
| Neurotoxicity Syndromes | 0.002367032 | 1 | 0 | GAD |
| Coronary Stenosis | 0.002367032 | 1 | 0 | GAD |
| Multiple Chemical Sensitivity | 0.002367032 | 1 | 0 | GAD |
| Complications of Diabetes Mellitus | 0.002367032 | 1 | 0 | GAD |
| Malignant neoplasm of liver | 0.002367032 | 1 | 0 | GAD |
| ovarian neoplasm | 0.002367032 | 1 | 0 | GAD |
| Genomic Instability | 0.002367032 | 1 | 0 | GAD |
| Coronary Restenosis | 0.002367032 | 1 | 0 | GAD |
| Gastro-esophageal reflux disease with esophagitis | 0.002171535 | 8 | 0 | BeFree |
| Acute myocardial infarction | 0.001900093 | 7 | 0 | BeFree |
| Liver carcinoma | 0.001357209 | 5 | 0 | BeFree |
| Colorectal Carcinoma | 0.001085767 | 4 | 0 | BeFree |
| Depressive disorder | 0.001085767 | 4 | 0 | BeFree |
| Stable angina | 0.001085767 | 4 | 0 | BeFree |
| Advanced cancer | 0.001085767 | 4 | 0 | BeFree |
| Ischemic stroke | 0.001085767 | 4 | 0 | BeFree |
| Ischemic Cerebrovascular Accident | 0.001085767 | 4 | 0 | BeFree |
| Diabetes Mellitus | 0.000814326 | 3 | 0 | BeFree |
| Unipolar Depression | 0.000814326 | 3 | 0 | BeFree |
| cardiac event | 0.000814326 | 3 | 0 | BeFree |
| Major Depressive Disorder | 0.000814326 | 3 | 0 | BeFree |
| Cirrhosis | 0.000814326 | 3 | 0 | BeFree |
| Anxiety Disorders | 0.000542884 | 2 | 0 | BeFree |
| Asthma | 0.000542884 | 2 | 0 | BeFree |
| Squamous cell carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Drug abuse | 0.000542884 | 2 | 0 | BeFree |
| Erythema Multiforme | 0.000542884 | 2 | 0 | BeFree |
| Gastritis, Atrophic | 0.000542884 | 2 | 4 | BeFree |
| Hepatitis B | 0.000542884 | 2 | 0 | BeFree |
| Mycoses | 0.000542884 | 2 | 0 | BeFree |
| Sudden infant death syndrome | 0.000542884 | 2 | 0 | BeFree |
| Depressive Symptoms | 0.000542884 | 2 | 0 | BeFree |
| Essential Tremor | 0.000542884 | 2 | 0 | BeFree |
| Squamous cell carcinoma of esophagus | 0.000542884 | 2 | 0 | BeFree |
| Solid tumour | 0.000542884 | 2 | 0 | BeFree |
| Restenosis | 0.000542884 | 2 | 0 | BeFree |
| Healing ulcer | 0.000542884 | 2 | 0 | BeFree |
| Chronic liver disease | 0.000542884 | 2 | 0 | BeFree |
| Chronic Kidney Insufficiency | 0.000542884 | 2 | 0 | BeFree |
| Carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
| Stomach Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Thrombocytosis | 0.000542884 | 2 | 0 | BeFree |
| Heartburn acidity | 0.000542884 | 2 | 0 | BeFree |
| Drug Resistant Epilepsy | 0.000542884 | 2 | 0 | BeFree |
| Squamous cell carcinoma of the head and neck | 0.000542884 | 2 | 0 | BeFree |
| Chronic Kidney Diseases | 0.000542884 | 2 | 0 | BeFree |
| Congenital adrenal hyperplasia | 0.000271442 | 1 | 0 | BeFree |
| Arthritis, Psoriatic | 0.000271442 | 1 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 3 | BeFree |
| Cystic Fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Diabetes | 0.000271442 | 1 | 0 | BeFree |
| Diabetic Retinopathy | 0.000271442 | 1 | 0 | BeFree |
| Dwarfism | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis A | 0.000271442 | 1 | 0 | BeFree |
| Hyperlipidemia | 0.000271442 | 1 | 0 | BeFree |
| Acute Kidney Tubular Necrosis | 0.000271442 | 1 | 0 | BeFree |
| Liver Cirrhosis, Alcoholic | 0.000271442 | 1 | 0 | BeFree |
| Primary malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
| Premature Menopause | 0.000271442 | 1 | 0 | BeFree |
| Myoclonus | 0.000271442 | 1 | 0 | BeFree |
| Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
| Obsessive-Compulsive Disorder | 0.000271442 | 1 | 0 | BeFree |
| Osteochondritis Dissecans | 0.000271442 | 1 | 0 | BeFree |
| Pharyngitis | 0.000271442 | 1 | 0 | BeFree |
| Premenstrual syndrome | 0.000271442 | 1 | 0 | BeFree |
| Psoriasis | 0.000271442 | 1 | 0 | BeFree |
| Kidney Failure | 0.000271442 | 1 | 0 | BeFree |
| Retinal Diseases | 0.000271442 | 1 | 0 | BeFree |
| Thromboembolism | 0.000271442 | 1 | 0 | BeFree |
| Upper Respiratory Infections | 0.000271442 | 1 | 0 | BeFree |
| Violence | 0.000271442 | 1 | 0 | BeFree |
| Peripheral Vascular Diseases | 0.000271442 | 1 | 0 | BeFree |
| Sore Throat | 0.000271442 | 1 | 0 | BeFree |
| Erosive esophagitis | 0.000271442 | 1 | 0 | BeFree |
| Disseminated Malignant Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Pulmonary Cystic Fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Non-alcoholic Fatty Liver Disease | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis B, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
| Biliary Tract Cancer | 0.000271442 | 1 | 0 | BeFree |
| Cancer of Digestive System | 0.000271442 | 1 | 0 | BeFree |
| Infantile Severe Myoclonic Epilepsy | 0.000271442 | 1 | 0 | BeFree |
| Acute Cerebrovascular Accidents | 0.000271442 | 1 | 0 | BeFree |
| 21-hydroxylase deficiency | 0.000271442 | 1 | 0 | BeFree |
| Cardiomyopathies | 0.000271442 | 1 | 0 | BeFree |
| First myocardial infarction | 0.000271442 | 1 | 0 | BeFree |
| ST segment elevation myocardial infarction | 0.000271442 | 1 | 0 | BeFree |
| Non-ST elevation (NSTEMI) myocardial infarction | 0.000271442 | 1 | 0 | BeFree |
| Peripheral Arterial Diseases | 0.000271442 | 1 | 0 | BeFree |
| Laryngeal cleft | 0.000271442 | 1 | 0 | BeFree |
| Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | 0.000271442 | 1 | 0 | BeFree |
| Hiatal Hernia | 0.000271442 | 1 | 0 | BeFree |
| Triple Negative Breast Neoplasms | 0.000271442 | 1 | 0 | BeFree |
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