chr7:117120042:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr7:117,120,042-117,308,719
hg38 chr7:117,479,988-117,668,665 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 squamous cell carcinoma NA BeFree Detail
0.509 Congenital bilateral aplasia of vas deferens We found that R74W cystic fibrosis transmembrane conductance regulator appears t... BeFree 10386624 Detail
<0.001 Malignant tumor of cervix NA BeFree Detail
0.002 Child Nutrition Disorders NA GAD Detail
<0.001 cholangitis NA BeFree Detail
<0.001 Primary biliary cirrhosis NA BeFree Detail
0.024 Cholangitis, Sclerosing NA BeFree,GAD,LHGDN Detail
0.001 cholera NA BeFree Detail
0.080 cholestasis NA RGD Detail
0.005 Chromosome Aberrations NA GAD Detail
0.002 Chromosome Deletion NA GAD Detail
0.002 Bronchitis, Chronic NA BeFree Detail
<0.001 Clubbed Fingers NA BeFree Detail
0.002 Colonic Diseases NA GAD Detail
<0.001 colorectal carcinoma NA BeFree Detail
0.120 Colorectal Neoplasms NA CTD_human Detail
<0.001 craniosynostosis NA BeFree Detail
0.005 Crohn Disease NA GAD,LHGDN Detail
0.003 cryptorchidism NA BeFree,GAD Detail
0.004 Cyst NA BeFree,LHGDN Detail
0.002 Dehydration Defective CFTR leads to epithelial surface dehydration, altered pH/electrolyte c... BeFree 24685676 Detail
0.002 Dehydration In CF, the loss of chloride transport caused by the mutation in the cystic fibro... BeFree 25866809 Detail
0.002 dental caries NA GAD Detail
<0.001 Diabetes Genotype impacted both mortality and diabetes risk: adults with severe CFTR geno... BeFree 25479583 Detail
0.001 diabetes mellitus Genotype impacted both mortality and diabetes risk: adults with severe CFTR geno... BeFree 25479583 Detail
0.003 Diabetes Mellitus, Insulin-Dependent NA BeFree,GAD Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree,GAD Detail
0.002 diarrhea NA BeFree Detail
<0.001 Digestive System Disorders NA BeFree Detail
0.080 duodenal ulcer NA RGD Detail
<0.001 endometriosis NA BeFree Detail
<0.001 Exanthema NA BeFree Detail
<0.001 Eye Infections NA BeFree Detail
0.002 Fetal Diseases NA GAD Detail
0.003 Fibrosis NA LHGDN Detail
0.002 pathologic fistula NA GAD Detail
0.005 Gastrointestinal Diseases NA BeFree,GAD,LHGDN Detail
<0.001 Gaucher disease Here, we report generation of cystic fibrosis (CF) and Gaucher's disease (GD) hi... BeFree 25245091 Detail
0.005 Growth Disorders NA GAD Detail
0.120 Diaphragmatic hernia NA CTD_human Detail
<0.001 HIV Infections NA BeFree Detail
<0.001 hypercalcemia NA BeFree Detail
0.002 hyperglycemia NA GAD Detail
0.002 Hyperlipidemia NA GAD Detail
0.002 Hypersensitivity NA GAD Detail
0.002 Immediate hypersensitivity NA GAD Detail
0.002 Female infertility NA GAD Detail
0.168 male infertility The c.1865G>A, p.Gly622Asp (G622D), located at the NBD1 C terminus of the CFTR p... BeFree,CTD_human,GAD 25443471 Detail
0.005 Inflammation NA LHGDN Detail
0.006 Inflammatory Bowel Diseases NA BeFree,GAD,LHGDN Detail
0.001 influenza Influenza virus M2 targets cystic fibrosis transmembrane conductance regulator f... BeFree 25795456 Detail
<0.001 Intestinal Diseases NA BeFree Detail
0.002 intussusception NA GAD Detail
<0.001 Creutzfeldt-Jakob disease NA BeFree Detail
0.003 Kartagener syndrome NA BeFree,LHGDN Detail
<0.001 keratitis NA BeFree Detail
0.001 Polycystic Kidney Diseases NA BeFree Detail
0.002 Klinefelter syndrome NA GAD Detail
<0.001 Language Disorders NA BeFree Detail
0.002 Biliary cirrhosis NA GAD Detail
0.008 Liver diseases NA BeFree,GAD Detail
<0.001 long QT syndrome NA BeFree Detail
0.032 Lung diseases Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance ... BeFree,GAD,LHGDN 24894806 Detail
0.032 Lung diseases The discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) ... BeFree,GAD,LHGDN 24925916 Detail
0.032 Lung diseases In the past, therapies for CF lung disease have primarily targeted the downstrea... BeFree,GAD,LHGDN 25037130 Detail
0.032 Lung diseases Cystic fibrosis (CF) is caused by a mutation in the CF transmembrane conductance... BeFree,GAD,LHGDN 25453871 Detail
0.020 Chronic Obstructive Airway Disease A major cause of COPD is cigarette smoking, which has been reported to decrease ... BeFree,GAD,LHGDN 24755862 Detail
0.020 Chronic Obstructive Airway Disease Finally, we will summarise emerging evidence indicating that acquired CFTR dysfu... BeFree,GAD,LHGDN 24925916 Detail
0.020 Chronic Obstructive Airway Disease Our study demonstrates that expression of ENaC, AQP5, and CFTR proteins in human... BeFree,GAD,LHGDN 25329998 Detail
0.001 Malabsorption Syndrome The gastrointestinal tract offers very good opportunities to measure CFTR protei... BeFree 25677689 Detail
<0.001 Malignant neoplasm of stomach NA BeFree Detail
0.002 maxillary sinusitis NA GAD Detail
<0.001 Chloasma NA BeFree Detail
<0.001 multiple endocrine neoplasia type 2A NA BeFree Detail
<0.001 spinal muscular atrophy NA BeFree Detail
<0.001 Mycobacterium avium-intracellulare Infection NA BeFree Detail
0.002 Mycobacterium Infections NA GAD Detail
0.010 Nasal Polyps NA BeFree,GAD,LHGDN Detail
0.024 oligospermia Controversial data have been published regarding the involvement of CFTR mutatio... BeFree,GAD 25386751 Detail
0.009 Pancreatic Diseases NA BeFree,GAD,LHGDN Detail
0.004 Pancreatic Insufficiency To determine if progressive improvement in cystic fibrosis-related diabetes (CFR... BeFree 25479583 Detail
0.007 Pancreatic Neoplasm NA GAD Detail
<0.001 Parainfluenza NA BeFree Detail
0.002 Paranasal Sinus Diseases NA GAD Detail
0.002 pneumonia These measures rescue the functional expression of the most frequent pathogenic ... BeFree 25350163 Detail
<0.001 polycystic ovary syndrome Defective CFTR-regulated granulosa cell proliferation in polycystic ovarian synd... BeFree 25646509 Detail
<0.001 polyps NA BeFree Detail
0.003 Prostatic Neoplasms NA BeFree,LHGDN Detail
0.002 protein-energy malnutrition NA GAD Detail
<0.001 Pruritus NA BeFree Detail
0.017 Pseudomonas Infections NA BeFree,GAD Detail
<0.001 pulmonary edema NA BeFree Detail
<0.001 pulmonary emphysema NA BeFree Detail
<0.001 pulmonary fibrosis NA BeFree Detail
<0.001 Respiration Disorders NA BeFree Detail
<0.001 Respiratory Syncytial Virus Infections NA BeFree Detail
0.003 Respiratory Tract Diseases NA BeFree,GAD Detail
0.005 Respiratory Tract Infections NA BeFree,GAD Detail
0.127 rhinitis NA CTD_human,GAD Detail
0.003 sarcoidosis NA BeFree,GAD Detail
0.002 Sarcoidosis, Pulmonary NA GAD Detail
0.007 Sex Chromosome Aberrations NA GAD Detail
0.001 Signs and Symptoms, Respiratory NA BeFree Detail
0.128 sinusitis NA BeFree,CTD_human,GAD Detail
0.002 Staphylococcal Infections NA GAD Detail
0.005 Steatorrhea NA GAD Detail
0.002 Chromosomal translocation NA GAD Detail
0.005 typhoid fever NA BeFree,GAD Detail
0.009 Urogenital Abnormalities NA GAD Detail
<0.001 Virus Diseases Influenza virus M2 targets cystic fibrosis transmembrane conductance regulator f... BeFree 25795456 Detail
<0.001 Peripheral Vascular Diseases NA BeFree Detail
0.003 Bronchial Hyperreactivity NA BeFree,GAD Detail
0.007 Polycystic Kidney, Autosomal Dominant NA BeFree,GAD,LHGDN Detail
0.080 autosomal recessive polycystic kidney disease NA RGD Detail
<0.001 Rous Sarcoma NA BeFree Detail
0.002 Chronic sinusitis NA BeFree Detail
0.173 Pancreatitis, Chronic This study aims to investigate the association of genetic variants of cystic fib... BeFree,CTD_human,GAD,LHGDN 24616641 Detail
0.173 Pancreatitis, Chronic Mutations in the cationic trypsinogen (PRSS1), cystic fibrosis transmembrane con... BeFree,CTD_human,GAD,LHGDN 25003218 Detail
0.173 Pancreatitis, Chronic Pancreatic tissues from patients with acute or chronic pancreatitis had lower le... BeFree,CTD_human,GAD,LHGDN 25447846 Detail
0.173 Pancreatitis, Chronic Exon sequences of the CFTR gene from 193 patients with chronic pancreatitis (121... BeFree,CTD_human,GAD,LHGDN 25492507 Detail
0.173 Pancreatitis, Chronic Functional characteristics of L1156F-CFTR associated with alcoholic chronic panc... BeFree,CTD_human,GAD,LHGDN 26089335 Detail
<0.001 Clubbing NA BeFree Detail
<0.001 Lower respiratory tract infection NA BeFree Detail
0.080 Myocardial Ischemia NA RGD Detail
<0.001 adrenoleukodystrophy NA BeFree Detail
0.001 Malnutrition NA BeFree Detail
<0.001 acute intermittent porphyria NA BeFree Detail
<0.001 cholangiocarcinoma NA BeFree Detail
<0.001 Metabolic alkalosis NA BeFree Detail
0.003 Hyperparathyroidism, Primary NA BeFree,GAD Detail
<0.001 Hydrosalpinx (disease) NA BeFree Detail
0.002 alpha 1-antitrypsin deficiency NA GAD Detail
0.002 pancreatic carcinoma The frequency of CFTR mutations in patients with PC was not significantly differ... BeFree 25003218 Detail
0.120 Substance-Related Disorders NA CTD_human Detail
0.003 Malignant neoplasm of lung NA BeFree,GAD Detail
0.002 Disease Progression NA GAD Detail
<0.001 Childhood asthma NA BeFree Detail
0.004 Pancreas divisum NA BeFree,GAD Detail
<0.001 Congenital anomaly of the kidney NA BeFree Detail
0.002 Congenital absence of vas deferens Novel mutations and polymorphisms in the CFTR gene associated with three subtype... BeFree 26277102 Detail
<0.001 secretory diarrhea NA BeFree Detail
<0.001 Congenital chloride diarrhea NA BeFree Detail
<0.001 hepatobiliary disease NA BeFree Detail
0.001 Acute recurrent pancreatitis NA BeFree Detail
0.026 exocrine pancreatic insufficiency To determine if progressive improvement in cystic fibrosis-related diabetes (CFR... BeFree,GAD 25479583 Detail
<0.001 Lactose Intolerance, Adult Type NA BeFree Detail
0.002 Meconium plug syndrome NA BeFree Detail
0.002 Cancer of Head and Neck NA GAD Detail
0.002 Adenocarcinoma of pancreas Therefore, we analyzed whether PRSS1, CFTR, SPINK1, and/or CTRC mutations are as... BeFree 25003218 Detail
0.002 Burkholderia Infections NA GAD Detail
<0.001 cervix carcinoma NA BeFree Detail
<0.001 Anastomosis NA BeFree Detail
<0.001 bilateral agenesis NA BeFree Detail
<0.001 Mucus cast Finally, we will summarise emerging evidence indicating that acquired CFTR dysfu... BeFree 24925916 Detail
<0.001 Mucus cast Cystic fibrosis (CF) is caused by a mutation in the CF transmembrane conductance... BeFree 25453871 Detail
<0.001 Carcinoid tumor no ICD-O subtype NA BeFree Detail
0.121 Idiopathic bronchiectasis NA BeFree,ORPHANET Detail
<0.001 Infectious disorder of bronchus NA BeFree Detail
0.002 Chronic liver disease NA GAD Detail
0.005 Idiopathic chronic pancreatitis Mutation analysis of PRSS1, SPINK1 and CFTR gene in patients with alcoholic and ... BeFree 25835118 Detail
0.002 Complications of Diabetes Mellitus NA GAD Detail
0.005 Malignant neoplasm of pancreas The frequency of CFTR mutations in patients with PC was not significantly differ... BeFree,GAD 25003218 Detail
<0.001 Malignant tumor of exocrine pancreas NA BeFree Detail
0.001 Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site NA BeFree Detail
0.003 Malignant neoplasm of prostate NA BeFree,GAD Detail
0.018 Pancreatitis, Alcoholic However, little is known about the role of CFTR in the pathogenesis of alcohol-i... BeFree,GAD 25447846 Detail
0.001 Pulmonary Cystic Fibrosis NA BeFree Detail
<0.001 Distal intestinal obstruction syndrome NA BeFree Detail
0.509 Congenital bilateral aplasia of vas deferens Congenital bilateral absence of vas deferens (CBAVD) is the most common CFTR-rel... BeFree,CLINVAR,CTD_human,GAD,ORPHANET,UNIPROT 25386751 Detail
0.509 Congenital bilateral aplasia of vas deferens Novel mutations and polymorphisms in the CFTR gene associated with three subtype... BeFree,CLINVAR,CTD_human,GAD,ORPHANET,UNIPROT 26277102 Detail
0.002 asthenozoospermia NA GAD Detail
0.002 Cutaneous Fistula NA GAD Detail
<0.001 Gastrointestinal symptom NA BeFree Detail
<0.001 Secondary malignant neoplasm of liver NA BeFree Detail
<0.001 Abnormal spermatogenesis NA BeFree Detail
0.001 Metabolic syndrome X NA BeFree Detail
<0.001 Congenital absence of kidney NA BeFree Detail
<0.001 Fluid overload NA BeFree Detail
0.002 Cystic fibrosis with meconium ileus NA BeFree Detail
0.002 primary sclerosing cholangitis NA BeFree Detail
<0.001 prostate carcinoma NA BeFree Detail
<0.001 Lung Diseases, Obstructive NA BeFree Detail
<0.001 breast carcinoma NA BeFree Detail
0.001 Carcinoma of lung NA BeFree Detail
<0.001 Community acquired pneumonia NA BeFree Detail
0.002 colon carcinoma NA BeFree Detail
<0.001 stomach carcinoma NA BeFree Detail
<0.001 Carcinoma of bladder NA BeFree Detail
<0.001 airway disease NA BeFree Detail
<0.001 Subfertility NA BeFree Detail
0.001 Chronic lung disease NA BeFree Detail
0.005 pancreatitis idiopathic NA BeFree Detail
<0.001 Pancreatic disorders (not diabetes) NA BeFree Detail
<0.001 Spots on skin NA BeFree Detail
<0.001 Distal ileal obstruction syndrome NA BeFree Detail
0.002 Pseudomonas aeruginosa infection Pseudomonas aeruginosa infections of the airway cells decrease apical expression... BeFree 24595473 Detail
<0.001 Hypotonic dehydration NA BeFree Detail
0.003 Infectious disease of lung NA BeFree Detail
<0.001 respiratory failure NA BeFree Detail
0.005 ileus NA GAD Detail
<0.001 Chronic emphysema NA BeFree Detail
0.002 Systemic arterial pressure NA GAD Detail
<0.001 Inflammatory disorder NA BeFree Detail
<0.001 Respiratory morbidity NA BeFree Detail
<0.001 Low Grade Squamous Intraepithelial Neoplasia NA BeFree Detail
<0.001 pancreatic ductal adenocarcinoma NA BeFree Detail
<0.001 Primary testicular failure NA BeFree Detail
<0.001 Mammary Neoplasms NA BeFree Detail
<0.001 colorectal cancer NA BeFree Detail
<0.001 Fibrocystic Disease of Pancreas NA BeFree Detail
<0.001 Diaphoresis Adverse Event NA BeFree Detail
<0.001 Polycystic Kidney - body part NA BeFree Detail
<0.001 Congenital absence of kidneys syndrome NA BeFree Detail
<0.001 TROPICAL CALCIFIC PANCREATITIS NA BeFree Detail
<0.001 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT NA BeFree Detail
<0.001 Lactase persistence NA BeFree Detail
<0.001 coronary artery disease NA BeFree Detail
<0.001 liver carcinoma NA BeFree Detail
<0.001 Chronic Lung Injury NA BeFree Detail
<0.001 autoimmune pancreatitis NA BeFree Detail
<0.001 Protein Misfolding Disorders NA BeFree Detail
<0.001 Pulmonary Mycobacterium avium complex infection NA BeFree Detail
0.120 Bronchiectasis with or without elevated sweat chloride 1 NA CTD_human Detail
<0.001 Pancreatic carcinoma, familial NA BeFree Detail
<0.001 Albright's hereditary osteodystrophy NA BeFree Detail
0.003 Echogenic Bowel NA BeFree,GAD Detail
<0.001 Generalized Myotonia of Thomsen NA BeFree Detail
0.002 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency NA GAD Detail
0.002 Meconium ileus NA BeFree Detail
<0.001 Pseudohypoparathyroidism, Type Ia NA BeFree Detail
<0.001 Allergic disposition NA BeFree Detail
0.002 Nutrition Disorders NA GAD Detail
0.013 Infection NA GAD,LHGDN Detail
<0.001 Congenital Abnormality NA BeFree Detail
0.003 acute pancreatitis No relationship was found between the detected mutations and severity of acute p... BeFree 26100556 Detail
0.008 adenocarcinoma NA BeFree,GAD,LHGDN Detail
<0.001 Adenovirus Infections NA BeFree Detail
<0.001 Airway Obstruction Cystic fibrosis (CF) is caused by a mutation in the CF transmembrane conductance... BeFree 25453871 Detail
0.002 Alcoholic Intoxication, Chronic NA GAD Detail
0.003 Alzheimer's disease NA LHGDN Detail
<0.001 Anaplasia NA BeFree Detail
0.003 Anoxia NA LHGDN Detail
<0.001 rheumatoid arthritis NA BeFree Detail
0.002 Aspergillosis, Allergic Bronchopulmonary NA BeFree Detail
0.026 asthma NA BeFree,GAD Detail
0.142 azoospermia Our results show that double heterozygosity of cystic fibrosis (CF) and CFTR-rel... BeFree,CTD_human,GAD 25386751 Detail
0.005 Bacterial Infections This article highlights major advances in our understanding of how CFTR dysfunct... BeFree,GAD 24925916 Detail
<0.001 Malignant neoplasm of urinary bladder NA BeFree Detail
<0.001 Malignant neoplasm of breast NA BeFree Detail
0.001 bronchitis NA BeFree Detail
<0.001 Carcinoid Tumor NA BeFree Detail
<0.001 Non-small cell lung carcinoma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
We found that R74W cystic fibrosis transmembrane conductance regulator appears to be a polymorphism,... DisGeNET Detail
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Defective CFTR leads to epithelial surface dehydration, altered pH/electrolyte composition and mucin... DisGeNET Detail
In CF, the loss of chloride transport caused by the mutation in the cystic fibrosis transmembrane co... DisGeNET Detail
NA DisGeNET Detail
Genotype impacted both mortality and diabetes risk: adults with severe CFTR genotypes experienced gr... DisGeNET Detail
Genotype impacted both mortality and diabetes risk: adults with severe CFTR genotypes experienced gr... DisGeNET Detail
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Here, we report generation of cystic fibrosis (CF) and Gaucher's disease (GD) hiPSCs respectively fr... DisGeNET Detail
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The c.1865G>A, p.Gly622Asp (G622D), located at the NBD1 C terminus of the CFTR protein, was initiall... DisGeNET Detail
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Influenza virus M2 targets cystic fibrosis transmembrane conductance regulator for lysosomal degrada... DisGeNET Detail
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Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gen... DisGeNET Detail
The discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene 25 years ago se... DisGeNET Detail
In the past, therapies for CF lung disease have primarily targeted the downstream effects of a dysfu... DisGeNET Detail
Cystic fibrosis (CF) is caused by a mutation in the CF transmembrane conductance regulator (CFTR) ge... DisGeNET Detail
A major cause of COPD is cigarette smoking, which has been reported to decrease the cellular levels ... DisGeNET Detail
Finally, we will summarise emerging evidence indicating that acquired CFTR dysfunction may be implic... DisGeNET Detail
Our study demonstrates that expression of ENaC, AQP5, and CFTR proteins in human COPD lungs is quant... DisGeNET Detail
The gastrointestinal tract offers very good opportunities to measure CFTR protein function and syste... DisGeNET Detail
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Controversial data have been published regarding the involvement of CFTR mutations in infertile men ... DisGeNET Detail
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To determine if progressive improvement in cystic fibrosis-related diabetes (CFRD) mortality has con... DisGeNET Detail
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These measures rescue the functional expression of the most frequent pathogenic CFTR mutant, F508del... DisGeNET Detail
Defective CFTR-regulated granulosa cell proliferation in polycystic ovarian syndrome. DisGeNET Detail
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Influenza virus M2 targets cystic fibrosis transmembrane conductance regulator for lysosomal degrada... DisGeNET Detail
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This study aims to investigate the association of genetic variants of cystic fibrosis transmembrane ... DisGeNET Detail
Mutations in the cationic trypsinogen (PRSS1), cystic fibrosis transmembrane conductance regulator (... DisGeNET Detail
Pancreatic tissues from patients with acute or chronic pancreatitis had lower levels of CFTR than ti... DisGeNET Detail
Exon sequences of the CFTR gene from 193 patients with chronic pancreatitis (121 idiopathic, 46 alco... DisGeNET Detail
Functional characteristics of L1156F-CFTR associated with alcoholic chronic pancreatitis in Japanese... DisGeNET Detail
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The frequency of CFTR mutations in patients with PC was not significantly different in comparison wi... DisGeNET Detail
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Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital abse... DisGeNET Detail
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To determine if progressive improvement in cystic fibrosis-related diabetes (CFRD) mortality has con... DisGeNET Detail
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Therefore, we analyzed whether PRSS1, CFTR, SPINK1, and/or CTRC mutations are associated with pancre... DisGeNET Detail
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Finally, we will summarise emerging evidence indicating that acquired CFTR dysfunction may be implic... DisGeNET Detail
Cystic fibrosis (CF) is caused by a mutation in the CF transmembrane conductance regulator (CFTR) ge... DisGeNET Detail
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Mutation analysis of PRSS1, SPINK1 and CFTR gene in patients with alcoholic and idiopathic chronic p... DisGeNET Detail
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The frequency of CFTR mutations in patients with PC was not significantly different in comparison wi... DisGeNET Detail
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However, little is known about the role of CFTR in the pathogenesis of alcohol-induced pancreatitis. DisGeNET Detail
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Congenital bilateral absence of vas deferens (CBAVD) is the most common CFTR-related disorder (CFTR-... DisGeNET Detail
Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital abse... DisGeNET Detail
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Pseudomonas aeruginosa infections of the airway cells decrease apical expression of both wild-type (... DisGeNET Detail
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No relationship was found between the detected mutations and severity of acute pancreatitis: mild ac... DisGeNET Detail
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Cystic fibrosis (CF) is caused by a mutation in the CF transmembrane conductance regulator (CFTR) ge... DisGeNET Detail
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Our results show that double heterozygosity of cystic fibrosis (CF) and CFTR-related disorder (CFTR-... DisGeNET Detail
This article highlights major advances in our understanding of how CFTR dysfunction causes chronic m... DisGeNET Detail
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Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs386434940 dbSNP
Genome
hg19
Position
chr7:117,120,042-117,308,719
Variant Type
snv
Genome browser