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Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant, the homozygote is at no known disadvantage. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  在BCHE轨迹突变等位基因负责琥珀胆碱的灵敏度。纯合子的人维持肌肉松弛剂琥珀胆碱给药后长时间呼吸暂停与外科麻醉连接。血清中假性胆碱酯酶的活性低,其底物的行为是典型的。在没有松弛的,在纯合子是在没有已知的缺点。 [由RefSeq的,2008年7月提供]
BCHE基因(以及对应的蛋白质)的细胞分布位置:
BCHE基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Butyrylcholinesterase deficiency | 0.360814326 | 7 | 3 | BeFree_CLINVAR_CTD_human_ORPHANET |
| Alzheimer's Disease | 0.192458757 | 52 | 1 | BeFree_CTD_human_GAD_LHGDN |
| Organophosphate poisoning | 0.124734064 | 8 | 0 | CTD_human_GAD |
| Obesity | 0.124538567 | 9 | 2 | BeFree_CTD_human_GAD |
| Paralysed | 0.122367032 | 10 | 0 | CTD_human_GAD |
| Renal Cell Carcinoma | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Glioblastoma | 0.120271442 | 1 | 0 | BeFree_CTD_human |
| Neuroblastoma | 0.120271442 | 1 | 0 | BeFree_CTD_human |
| Seizures | 0.120271442 | 4 | 0 | BeFree_CTD_human |
| Mammary Neoplasms | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Apnea | 0.12 | 31 | 0 | CTD_human |
| Cardiovascular Diseases | 0.12 | 1 | 1 | GWASCAT |
| Cognition Disorders | 0.12 | 2 | 0 | CTD_human |
| Cessation of life | 0.12 | 1 | 0 | CTD_human |
| Tonic-Clonic Epilepsy | 0.12 | 1 | 0 | CTD_human |
| Muscular fasciculation | 0.12 | 1 | 0 | CTD_human |
| Hypertriglyceridemia | 0.12 | 1 | 0 | CTD_human |
| Multiple Sclerosis | 0.12 | 1 | 0 | CTD_human |
| Muscular Dystrophy | 0.12 | 1 | 0 | CTD_human |
| Paresis | 0.12 | 1 | 0 | CTD_human |
| Postoperative Complications | 0.12 | 1 | 0 | CTD_human |
| Sleep Apnea Syndromes | 0.12 | 1 | 0 | CTD_human |
| Tachycardia | 0.12 | 1 | 0 | CTD_human |
| Trismus | 0.12 | 1 | 0 | CTD_human |
| Adverse reaction to drug | 0.12 | 1 | 0 | CTD_human |
| Neurotoxicity Syndromes | 0.12 | 1 | 0 | CTD_human |
| Cocaine-Related Disorders | 0.12 | 7 | 0 | CTD_human |
| Hyperactive behavior | 0.12 | 1 | 0 | CTD_human |
| Cardiotoxicity | 0.12 | 1 | 0 | CTD_human |
| Bamforth syndrome | 0.12 | 1 | 0 | CTD_human |
| Apnea, Postanesthetic | 0.12 | 0 | 1 | CLINVAR |
| Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type | 0.12 | 0 | 1 | CLINVAR |
| Hyperhomocysteinemia | 0.082638474 | 3 | 0 | BeFree_GAD_RGD |
| Amnesia | 0.08 | 1 | 0 | RGD |
| Diabetes Mellitus, Experimental | 0.08 | 3 | 0 | RGD |
| Leptospirosis | 0.08 | 1 | 0 | RGD |
| Trypanosomiasis | 0.08 | 1 | 0 | RGD |
| Coronary Artery Disease | 0.011811416 | 6 | 0 | BeFree_GAD_LHGDN |
| Dementia | 0.007448483 | 10 | 0 | BeFree_GAD |
| body mass | 0.007101096 | 3 | 0 | GAD |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.006362715 | 6 | 0 | BeFree_GAD |
| Coronary Arteriosclerosis | 0.005819831 | 6 | 0 | BeFree_GAD |
| Diabetes Mellitus | 0.004624443 | 8 | 0 | BeFree_LHGDN |
| Metabolic Syndrome X | 0.004267125 | 8 | 0 | BeFree_GAD |
| Lewy Body Disease | 0.003724241 | 6 | 0 | BeFree_GAD |
| Adenocarcinoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Presenile dementia | 0.002714419 | 10 | 0 | BeFree |
| Impaired cognition | 0.002442977 | 9 | 0 | BeFree |
| Kidney Failure, Chronic | 0.002367032 | 1 | 0 | GAD |
| Psychomotor Disorders | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Weight Gain | 0.002367032 | 1 | 0 | GAD |
| childhood brain tumor | 0.002367032 | 1 | 0 | GAD |
| Weight Gain Adverse Event | 0.002367032 | 1 | 0 | GAD |
| Neurofibrillary degeneration (morphologic abnormality) | 0.001357209 | 5 | 0 | BeFree |
| Senile Plaques | 0.001357209 | 5 | 0 | BeFree |
| Cocaine Abuse | 0.001085767 | 4 | 0 | BeFree |
| Coronary heart disease | 0.001085767 | 4 | 0 | BeFree |
| Diabetes | 0.001085767 | 4 | 0 | BeFree |
| Cocaine Dependence | 0.001085767 | 4 | 0 | BeFree |
| Observation of Neuromuscular Block | 0.001085767 | 4 | 0 | BeFree |
| Myasthenic Syndromes, Congenital | 0.001085767 | 4 | 0 | BeFree |
| Mild cognitive disorder | 0.001085767 | 4 | 0 | BeFree |
| Plaque, Amyloid | 0.001085767 | 4 | 0 | BeFree |
| leukemia | 0.000814326 | 3 | 0 | BeFree |
| Neurodegenerative Disorders | 0.000814326 | 3 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
| Drug abuse | 0.000542884 | 2 | 0 | BeFree |
| Liver Cirrhosis | 0.000542884 | 2 | 0 | BeFree |
| Liver diseases | 0.000542884 | 2 | 0 | BeFree |
| Lupus Erythematosus, Systemic | 0.000542884 | 2 | 0 | BeFree |
| Malignant hyperpyrexia due to anesthesia | 0.000542884 | 2 | 0 | BeFree |
| Myasthenia Gravis | 0.000542884 | 2 | 0 | BeFree |
| Prolonged neuromuscular block | 0.000542884 | 2 | 0 | BeFree |
| Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| ovarian neoplasm | 0.000542884 | 2 | 0 | BeFree |
| Sporadic Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Refractory anemias | 0.000271442 | 1 | 0 | BeFree |
| Refractory anaemia with excess blasts | 0.000271442 | 1 | 0 | BeFree |
| Rheumatoid Arthritis | 0.000271442 | 1 | 1 | BeFree |
| Churg-Strauss Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cystic Fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis B | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis C | 0.000271442 | 1 | 0 | BeFree |
| Kidney Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
| Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
| Leukemia, Myelomonocytic, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Nervous System Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cerebrovascular accident | 0.000271442 | 1 | 0 | BeFree |
| Thyroiditis | 0.000271442 | 1 | 0 | BeFree |
| Cerebral Amyloid Angiopathy | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Adult-onset obesity | 0.000271442 | 1 | 0 | BeFree |
| Spastic syndrome | 0.000271442 | 1 | 0 | BeFree |
| Congenital Disorders of Glycosylation | 0.000271442 | 1 | 0 | BeFree |
| Restenosis | 0.000271442 | 1 | 0 | BeFree |
| Lupus Erythematosus | 0.000271442 | 1 | 0 | BeFree |
| Weakness of limb | 0.000271442 | 1 | 0 | BeFree |
| Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| early pregnancy | 0.000271442 | 1 | 0 | BeFree |
| Thrombocytosis | 0.000271442 | 1 | 0 | BeFree |
| Addicted to cocaine | 0.000271442 | 1 | 0 | BeFree |
| Enzyme inhibition disorder | 0.000271442 | 1 | 0 | BeFree |
| Gestational Trophoblastic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Attention deficit hyperactivity disorder | 0.000271442 | 1 | 0 | BeFree |
| Attention deficit-hyperactivity | 0.000271442 | 1 | 0 | BeFree |
| AURAL ATRESIA, CONGENITAL | 0.000271442 | 1 | 0 | BeFree |
| Gestational trophoblastic disease | 0.000271442 | 1 | 0 | BeFree |
| Refractory anemia, without ringed sideroblasts, without excess blasts | 0.000271442 | 1 | 0 | BeFree |
| HYDATIDIFORM MOLE, RECURRENT, 1 | 0.000271442 | 1 | 0 | BeFree |
| Severe dementia | 0.000271442 | 1 | 0 | BeFree |
| Mixed dementia | 0.000271442 | 1 | 0 | BeFree |
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