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This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  
CFTR基因(以及对应的蛋白质)的细胞分布位置:
CFTR基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Cystic Fibrosis | 0.8 | 1178 | 355 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT |
Congenital bilateral aplasia of vas deferens | 0.509163832 | 95 | 20 | BeFree_CLINVAR_CTD_human_GAD_ORPHANET_UNIPROT |
Pancreatitis | 0.22483508 | 64 | 1 | BeFree_CTD_human_GAD_LHGDN |
Pancreatitis, Chronic | 0.173492707 | 66 | 3 | BeFree_CTD_human_GAD_LHGDN |
Male infertility | 0.168111358 | 41 | 1 | BeFree_CTD_human_GAD |
Azoospermia | 0.142074006 | 34 | 0 | BeFree_CTD_human_GAD |
Bronchiectasis | 0.130901282 | 15 | 1 | BeFree_CLINVAR_GAD |
Sinusitis | 0.127915422 | 7 | 0 | BeFree_CTD_human_GAD |
Rhinitis | 0.127101096 | 4 | 0 | CTD_human_GAD |
Hereditary pancreatitis | 0.121085767 | 4 | 9 | BeFree_CLINVAR |
Idiopathic bronchiectasis | 0.120542884 | 2 | 0 | BeFree_ORPHANET |
Colorectal Neoplasms | 0.12 | 1 | 0 | CTD_human |
Diaphragmatic Hernia | 0.12 | 1 | 0 | CTD_human |
Substance-Related Disorders | 0.12 | 1 | 0 | CTD_human |
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 | 0.12 | 0 | 0 | CTD_human |
Cholestasis | 0.08 | 1 | 0 | RGD |
Duodenal Ulcer | 0.08 | 1 | 0 | RGD |
Autosomal Recessive Polycystic Kidney Disease | 0.08 | 1 | 0 | RGD |
Myocardial Ischemia | 0.08 | 1 | 0 | RGD |
Lung diseases | 0.032365053 | 74 | 3 | BeFree_GAD_LHGDN |
Exocrine pancreatic insufficiency | 0.0259178 | 25 | 2 | BeFree_GAD |
Asthma | 0.025646358 | 20 | 1 | BeFree_GAD |
Cholangitis, Sclerosing | 0.024361212 | 8 | 0 | BeFree_GAD_LHGDN |
Oligospermia | 0.023746265 | 17 | 0 | BeFree_GAD |
Chronic Obstructive Airway Disease | 0.019640961 | 15 | 1 | BeFree_GAD_LHGDN |
Pancreatitis, Alcoholic | 0.018469317 | 13 | 3 | BeFree_GAD |
Pseudomonas Infections | 0.017383549 | 10 | 0 | BeFree_GAD |
Infection | 0.013264433 | 5 | 0 | GAD_LHGDN |
Nasal Polyps | 0.010172833 | 11 | 0 | BeFree_GAD_LHGDN |
Urogenital Abnormalities | 0.009468128 | 4 | 0 | GAD |
Pancreatic Diseases | 0.009444384 | 6 | 0 | BeFree_GAD_LHGDN |
Adenocarcinoma | 0.008087174 | 4 | 0 | BeFree_GAD_LHGDN |
Liver diseases | 0.00764398 | 5 | 0 | BeFree_GAD |
Pancreatic Neoplasm | 0.007101096 | 3 | 0 | GAD |
Sex Chromosome Aberrations | 0.007101096 | 3 | 0 | GAD |
Polycystic Kidney, Autosomal Dominant | 0.006720033 | 6 | 0 | BeFree_GAD_LHGDN |
Inflammatory Bowel Diseases | 0.005634266 | 2 | 0 | BeFree_GAD_LHGDN |
Inflammation | 0.0054487 | 2 | 0 | LHGDN |
Gastrointestinal Diseases | 0.005362824 | 3 | 0 | BeFree_GAD_LHGDN |
Respiratory Tract Infections | 0.005276948 | 4 | 0 | BeFree_GAD |
Typhoid Fever | 0.005276948 | 2 | 1 | BeFree_GAD |
Idiopathic chronic pancreatitis | 0.005157396 | 19 | 1 | BeFree |
Crohn Disease | 0.005091382 | 1 | 0 | GAD_LHGDN |
Bacterial Infections | 0.005081451 | 11 | 0 | BeFree_GAD |
pancreatitis idiopathic | 0.004885954 | 18 | 3 | BeFree |
Chromosome Aberrations | 0.004734064 | 2 | 0 | GAD |
Growth Disorders | 0.004734064 | 2 | 0 | GAD |
Steatorrhea | 0.004734064 | 2 | 0 | GAD |
Ileus | 0.004734064 | 2 | 0 | GAD |
Malignant neoplasm of pancreas | 0.004538567 | 9 | 0 | BeFree_GAD |
Pancreatic Insufficiency | 0.00434307 | 16 | 2 | BeFree |
Pancreas divisum | 0.004267125 | 7 | 0 | BeFree_GAD |
Cyst | 0.003810118 | 4 | 0 | BeFree_LHGDN |
Sarcoidosis | 0.003452799 | 4 | 0 | BeFree_GAD |
Malignant neoplasm of lung | 0.003452799 | 4 | 0 | BeFree_GAD |
Infectious disease of lung | 0.003257302 | 12 | 0 | BeFree |
Echogenic Bowel | 0.003181358 | 4 | 0 | BeFree_GAD |
Kartagener Syndrome | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Prostatic Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Acute pancreatitis | 0.002985861 | 11 | 0 | BeFree |
Hyperparathyroidism, Primary | 0.002909916 | 2 | 0 | BeFree_GAD |
Malignant neoplasm of prostate | 0.002909916 | 2 | 0 | BeFree_GAD |
Alzheimer's Disease | 0.00272435 | 1 | 0 | LHGDN |
Anoxia | 0.00272435 | 1 | 0 | LHGDN |
Fibrosis | 0.00272435 | 1 | 0 | LHGDN |
Cryptorchidism | 0.002638474 | 2 | 0 | BeFree_GAD |
Diabetes Mellitus, Insulin-Dependent | 0.002638474 | 2 | 0 | BeFree_GAD |
Diabetes Mellitus, Non-Insulin-Dependent | 0.002638474 | 2 | 0 | BeFree_GAD |
Respiratory Tract Diseases | 0.002638474 | 2 | 0 | BeFree_GAD |
Bronchial Hyperreactivity | 0.002638474 | 2 | 2 | BeFree_GAD |
Pancreatic carcinoma | 0.002442977 | 9 | 0 | BeFree |
Primary sclerosing cholangitis | 0.002442977 | 9 | 0 | BeFree |
Alcoholic Intoxication, Chronic | 0.002367032 | 1 | 0 | GAD |
Child Nutrition Disorders | 0.002367032 | 1 | 0 | GAD |
Chromosome Deletion | 0.002367032 | 1 | 0 | GAD |
Colonic Diseases | 0.002367032 | 1 | 0 | GAD |
Dental caries | 0.002367032 | 1 | 0 | GAD |
Fetal Diseases | 0.002367032 | 1 | 0 | GAD |
pathologic fistula | 0.002367032 | 1 | 0 | GAD |
Hyperglycemia | 0.002367032 | 1 | 0 | GAD |
Hyperlipidemia | 0.002367032 | 1 | 0 | GAD |
Hypersensitivity | 0.002367032 | 1 | 0 | GAD |
Immediate hypersensitivity | 0.002367032 | 1 | 0 | GAD |
Female infertility | 0.002367032 | 1 | 0 | GAD |
Intussusception | 0.002367032 | 1 | 0 | GAD |
Klinefelter Syndrome | 0.002367032 | 1 | 0 | GAD |
Biliary cirrhosis | 0.002367032 | 1 | 0 | GAD |
Maxillary Sinusitis | 0.002367032 | 1 | 0 | GAD |
Mycobacterium Infections | 0.002367032 | 1 | 0 | GAD |
Paranasal Sinus Diseases | 0.002367032 | 1 | 0 | GAD |
Protein-Energy Malnutrition | 0.002367032 | 1 | 0 | GAD |
Sarcoidosis, Pulmonary | 0.002367032 | 1 | 0 | GAD |
Staphylococcal Infections | 0.002367032 | 1 | 0 | GAD |
Chromosomal translocation | 0.002367032 | 1 | 0 | GAD |
alpha 1-Antitrypsin Deficiency | 0.002367032 | 1 | 0 | GAD |
Disease Progression | 0.002367032 | 1 | 0 | GAD |
Cancer of Head and Neck | 0.002367032 | 1 | 0 | GAD |
Burkholderia Infections | 0.002367032 | 1 | 0 | GAD |
Chronic liver disease | 0.002367032 | 1 | 0 | GAD |
Complications of Diabetes Mellitus | 0.002367032 | 1 | 0 | GAD |
Asthenozoospermia | 0.002367032 | 1 | 0 | GAD |
Cutaneous Fistula | 0.002367032 | 1 | 0 | GAD |
Systemic arterial pressure | 0.002367032 | 1 | 0 | GAD |
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | 0.002367032 | 1 | 0 | GAD |
Nutrition Disorders | 0.002367032 | 1 | 0 | GAD |
Pneumonia | 0.002171535 | 8 | 0 | BeFree |
Meconium plug syndrome | 0.002171535 | 8 | 1 | BeFree |
Cystic fibrosis with meconium ileus | 0.002171535 | 8 | 1 | BeFree |
Pseudomonas aeruginosa infection | 0.002171535 | 8 | 0 | BeFree |
Meconium ileus | 0.002171535 | 8 | 1 | BeFree |
Congenital absence of vas deferens | 0.001900093 | 7 | 0 | BeFree |
Adenocarcinoma of pancreas | 0.001900093 | 7 | 1 | BeFree |
Aspergillosis, Allergic Bronchopulmonary | 0.001628651 | 6 | 0 | BeFree |
Bronchitis, Chronic | 0.001628651 | 6 | 0 | BeFree |
Dehydration | 0.001628651 | 6 | 0 | BeFree |
Diarrhea | 0.001628651 | 6 | 0 | BeFree |
Chronic sinusitis | 0.001628651 | 6 | 0 | BeFree |
Colon Carcinoma | 0.001628651 | 6 | 0 | BeFree |
Polycystic Kidney Diseases | 0.001357209 | 5 | 0 | BeFree |
Acute recurrent pancreatitis | 0.001357209 | 5 | 0 | BeFree |
Pulmonary Cystic Fibrosis | 0.001357209 | 5 | 0 | BeFree |
Metabolic Syndrome X | 0.001357209 | 5 | 1 | BeFree |
Bronchitis | 0.001085767 | 4 | 0 | BeFree |
Cholera | 0.001085767 | 4 | 0 | BeFree |
Diabetes Mellitus | 0.001085767 | 4 | 0 | BeFree |
Influenza | 0.001085767 | 4 | 0 | BeFree |
Malabsorption Syndrome | 0.001085767 | 4 | 0 | BeFree |
Signs and Symptoms, Respiratory | 0.001085767 | 4 | 2 | BeFree |
Malnutrition | 0.001085767 | 4 | 0 | BeFree |
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site | 0.001085767 | 4 | 0 | BeFree |
Carcinoma of lung | 0.001085767 | 4 | 0 | BeFree |
Chronic lung disease | 0.001085767 | 4 | 0 | BeFree |
Congenital Abnormality | 0.000814326 | 3 | 0 | BeFree |
Adenovirus Infections | 0.000814326 | 3 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Diabetes | 0.000814326 | 3 | 0 | BeFree |
Exanthema | 0.000814326 | 3 | 0 | BeFree |
Congenital anomaly of the kidney | 0.000814326 | 3 | 0 | BeFree |
Secretory diarrhea | 0.000814326 | 3 | 0 | BeFree |
Congenital absence of kidney | 0.000814326 | 3 | 0 | BeFree |
Lung Diseases, Obstructive | 0.000814326 | 3 | 0 | BeFree |
airway disease | 0.000814326 | 3 | 0 | BeFree |
Fibrocystic Disease of Pancreas | 0.000814326 | 3 | 0 | BeFree |
Polycystic Kidney - body part | 0.000814326 | 3 | 0 | BeFree |
Congenital absence of kidneys syndrome | 0.000814326 | 3 | 0 | BeFree |
Liver carcinoma | 0.000814326 | 3 | 0 | BeFree |
Rheumatoid Arthritis | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
Malignant tumor of cervix | 0.000542884 | 2 | 0 | BeFree |
Digestive System Disorders | 0.000542884 | 2 | 0 | BeFree |
HIV Infections | 0.000542884 | 2 | 0 | BeFree |
Intestinal Diseases | 0.000542884 | 2 | 1 | BeFree |
Keratitis | 0.000542884 | 2 | 0 | BeFree |
Pulmonary Emphysema | 0.000542884 | 2 | 0 | BeFree |
Respiratory Syncytial Virus Infections | 0.000542884 | 2 | 0 | BeFree |
Virus Diseases | 0.000542884 | 2 | 0 | BeFree |
Acute intermittent porphyria | 0.000542884 | 2 | 0 | BeFree |
Metabolic alkalosis | 0.000542884 | 2 | 1 | BeFree |
Hydrosalpinx (disease) | 0.000542884 | 2 | 0 | BeFree |
Childhood asthma | 0.000542884 | 2 | 0 | BeFree |
Hepatobiliary disease | 0.000542884 | 2 | 0 | BeFree |
Cervix carcinoma | 0.000542884 | 2 | 0 | BeFree |
bilateral agenesis | 0.000542884 | 2 | 0 | BeFree |
Mucus cast | 0.000542884 | 2 | 0 | BeFree |
Infectious disorder of bronchus | 0.000542884 | 2 | 0 | BeFree |
Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Subfertility | 0.000542884 | 2 | 0 | BeFree |
Pancreatic disorders (not diabetes) | 0.000542884 | 2 | 1 | BeFree |
Spots on skin | 0.000542884 | 2 | 0 | BeFree |
Respiratory Failure | 0.000542884 | 2 | 0 | BeFree |
Pancreatic Ductal Adenocarcinoma | 0.000542884 | 2 | 0 | BeFree |
Mammary Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Autoimmune pancreatitis | 0.000542884 | 2 | 0 | BeFree |
Airway Obstruction | 0.000271442 | 1 | 0 | BeFree |
Anaplasia | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of urinary bladder | 0.000271442 | 1 | 0 | BeFree |
Carcinoid Tumor | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cholangitis | 0.000271442 | 1 | 0 | BeFree |
Primary biliary cirrhosis | 0.000271442 | 1 | 0 | BeFree |
Clubbed Fingers | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Craniosynostosis | 0.000271442 | 1 | 0 | BeFree |
Endometriosis | 0.000271442 | 1 | 0 | BeFree |
Eye Infections | 0.000271442 | 1 | 0 | BeFree |
Gaucher Disease | 0.000271442 | 1 | 0 | BeFree |
Hypercalcemia | 0.000271442 | 1 | 0 | BeFree |
Creutzfeldt-Jakob disease | 0.000271442 | 1 | 0 | BeFree |
Language Disorders | 0.000271442 | 1 | 0 | BeFree |
Long QT Syndrome | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
Chloasma | 0.000271442 | 1 | 0 | BeFree |
Multiple Endocrine Neoplasia Type 2a | 0.000271442 | 1 | 0 | BeFree |
Spinal Muscular Atrophy | 0.000271442 | 1 | 0 | BeFree |
Mycobacterium avium-intracellulare Infection | 0.000271442 | 1 | 0 | BeFree |
Parainfluenza | 0.000271442 | 1 | 0 | BeFree |
Polycystic Ovary Syndrome | 0.000271442 | 1 | 0 | BeFree |
polyps | 0.000271442 | 1 | 0 | BeFree |
Pruritus | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Edema | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
Cor pulmonale | 0.000271442 | 1 | 1 | BeFree |
Respiration Disorders | 0.000271442 | 1 | 0 | BeFree |
Peripheral Vascular Diseases | 0.000271442 | 1 | 0 | BeFree |
Rous Sarcoma | 0.000271442 | 1 | 0 | BeFree |
Clubbing | 0.000271442 | 1 | 0 | BeFree |
Lower respiratory tract infection | 0.000271442 | 1 | 0 | BeFree |
Adrenoleukodystrophy | 0.000271442 | 1 | 0 | BeFree |
Cholangiocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Chronic pulmonary heart disease | 0.000271442 | 1 | 1 | BeFree |
Congenital chloride diarrhea | 0.000271442 | 1 | 0 | BeFree |
Lactose Intolerance, Adult Type | 0.000271442 | 1 | 0 | BeFree |
Anastomosis | 0.000271442 | 1 | 0 | BeFree |
Carcinoid tumor no ICD-O subtype | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of exocrine pancreas | 0.000271442 | 1 | 0 | BeFree |
Distal intestinal obstruction syndrome | 0.000271442 | 1 | 0 | BeFree |
Gastrointestinal symptom | 0.000271442 | 1 | 1 | BeFree |
Secondary malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
Abnormal spermatogenesis | 0.000271442 | 1 | 0 | BeFree |
Fluid overload | 0.000271442 | 1 | 0 | BeFree |
Community acquired pneumonia | 0.000271442 | 1 | 0 | BeFree |
Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
Distal ileal obstruction syndrome | 0.000271442 | 1 | 0 | BeFree |
Hypotonic dehydration | 0.000271442 | 1 | 0 | BeFree |
Chronic emphysema | 0.000271442 | 1 | 0 | BeFree |
Inflammatory disorder | 0.000271442 | 1 | 0 | BeFree |
Respiratory morbidity | 0.000271442 | 1 | 0 | BeFree |
Low Grade Squamous Intraepithelial Neoplasia | 0.000271442 | 1 | 0 | BeFree |
Primary testicular failure | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
Diaphoresis Adverse Event | 0.000271442 | 1 | 2 | BeFree |
TROPICAL CALCIFIC PANCREATITIS | 0.000271442 | 1 | 0 | BeFree |
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT | 0.000271442 | 1 | 0 | BeFree |
LACTASE PERSISTENCE | 0.000271442 | 1 | 0 | BeFree |
Coronary Artery Disease | 0.000271442 | 1 | 0 | BeFree |
Chronic Lung Injury | 0.000271442 | 1 | 0 | BeFree |
Protein Misfolding Disorders | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Mycobacterium avium complex infection | 0.000271442 | 1 | 0 | BeFree |
Pancreatic carcinoma, familial | 0.000271442 | 1 | 1 | BeFree |
Albright's hereditary osteodystrophy | 0.000271442 | 1 | 0 | BeFree |
Generalized Myotonia of Thomsen | 0.000271442 | 1 | 0 | BeFree |
Pseudohypoparathyroidism, Type Ia | 0.000271442 | 1 | 0 | BeFree |
Allergic disposition | 0.000271442 | 1 | 0 | BeFree |
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