CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs213950
rs213950
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE Association of M470V polymorphism of CFTR gene with variability of clinical expression of asthma: Case-report study. 30268379 2019
dbSNP: rs213950
rs213950
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0001339
Disease:
Acute pancreatitis
0.010 GeneticVariation BEFREE Therefore, the aim of our study was to determine the functional importance of common cystic fibrosis transmembrane conductance regulator variations IVS8-poly T, R117H, and M470V for the severity of acute pancreatitis. 30132293 2019
dbSNP: rs75527207
rs75527207
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0948780
Disease:
Rhinosinusitis
0.010 GeneticVariation BEFREE Additive improvement in G551D CFTR-mediated Cl<sup>-</sup> secretion suggests that resveratrol could enhance ivacaftor therapy in these patients and improve CF-related rhinosinusitis. 30152192 2019
dbSNP: rs75527207
rs75527207
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010278
Disease:
Craniosynostosis
0.010 GeneticVariation BEFREE Ivacaftor improves QOL in the R, P, and S domains in G551D CF patients, although QOL instruments validated for CRS may not translate well to CF CRS patients because symptom burden was surprisingly low. 30472785 2019
dbSNP: rs78655421
rs78655421
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0037090
Disease:
Signs and Symptoms, Respiratory
0.010 GeneticVariation BEFREE Here we describe a case of a patient with CF (R117H/7 T/F508del) who presented with recurrent pancreatitis who was effectively treated with ivacaftor in the absence of respiratory symptoms. 31296159 2019
dbSNP: rs78655421
rs78655421
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE We present a non-consanguineous family of three siblings who presented with diabetes mellitus (DM), two of whom had genetically confirmed cystic fibrosis (CF), with one pancreatic-sufficient mutation in the cystic fibrosis transmembrane conductance regulator (<i>CFTR</i>) gene (ΔF508/R117H;IVS8-5T). 30269055 2019
dbSNP: rs78655421
rs78655421
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0001339
Disease:
Acute pancreatitis
0.010 GeneticVariation BEFREE Therefore, the aim of our study was to determine the functional importance of common cystic fibrosis transmembrane conductance regulator variations IVS8-poly T, R117H, and M470V for the severity of acute pancreatitis. 30132293 2019
dbSNP: rs78655421
rs78655421
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0006267
Disease:
Bronchiectasis
0.010 GeneticVariation BEFREE For those with chest HRCT results available, 75% p.Arg117His-5TCF, 33% p.Arg117His-7TCF and 27% p.Arg117His-7TCFTR patients had bronchiectasis. 30279124 2019
dbSNP: rs78655421
rs78655421
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0149521
Disease:
Pancreatitis, Chronic
0.010 GeneticVariation BEFREE Here we describe a case of a patient with CF (R117H/7 T/F508del) who presented with recurrent pancreatitis who was effectively treated with ivacaftor in the absence of respiratory symptoms. 31296159 2019
dbSNP: rs78655421
rs78655421
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C4551632
Disease:
Recurrent pancreatitis
0.010 GeneticVariation BEFREE Here we describe a case of a patient with CF (R117H/7 T/F508del) who presented with recurrent pancreatitis who was effectively treated with ivacaftor in the absence of respiratory symptoms. 31296159 2019
dbSNP: rs113993959
rs113993959
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0021843
Disease:
Intestinal Obstruction
0.010 GeneticVariation BEFREE The G542X mouse model has reduced Cftr mRNA levels, demonstrates absence of CFTR function, and displays characteristic manifestations of CF mice such as reduced growth and intestinal obstruction. 29924856 2018
dbSNP: rs186089140
rs186089140
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0151476
Disease:
Hypochloremic alkalosis
0.010 GeneticVariation BEFREE S737F is a CFTR mutation associated to hypochloremic alkalosis in childhood, mild CF phenotype in teenage years and a residual function of CFTR protein. 29298718 2018
dbSNP: rs186089140
rs186089140
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
0.010 GeneticVariation BEFREE S737F is a CFTR mutation associated to hypochloremic alkalosis in childhood, mild CF phenotype in teenage years and a residual function of CFTR protein. 29298718 2018
dbSNP: rs397508731
rs397508731
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
0.010 GeneticVariation BEFREE Ten patients were studied, seven had five pathogenic mutations without previous description in Brazil (Q1100P, Y109C, A107P, E1409K and K162E), one of which has not yet been reported in patients with CF (A107P). 30232781 2018
dbSNP: rs75053309
rs75053309
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
0.010 GeneticVariation BEFREE In our cohort, the Q359K/T360K mutation resulted in a severe CF phenotype, although with residual early CFTR function. 30033373 2018
dbSNP: rs75527207
rs75527207
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0038587
Disease:
Substance Withdrawal Syndrome
0.010 GeneticVariation BEFREE Ivacaftor withdrawal syndrome in cystic fibrosis patients with the G551D mutation. 29079142 2018
dbSNP: rs267606723
rs267606723
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0341318
Disease:
Enterocutaneous Fistula
0.010 GeneticVariation BEFREE The p.Gly1244Glu mutation homozygous patient, who had undergone an ileal resection with ileostomy and enterocutaneous fistula, did not respond clinically to ivacaftor and did not modify his sweat test. 27659740 2017
dbSNP: rs75389940
rs75389940
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0267963
Disease:
Exocrine pancreatic insufficiency
0.010 GeneticVariation BEFREE Forty-five CF patients with homozygous CFTR I1234V mutation belonging to a large Arab kindred tribe and eight CF patients with other mutations associated with pancreatic insufficiency (PI). 26096753 2017
dbSNP: rs75389940
rs75389940
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0030293
Disease:
Pancreatic Insufficiency
0.010 GeneticVariation BEFREE Forty-five CF patients with homozygous CFTR I1234V mutation belonging to a large Arab kindred tribe and eight CF patients with other mutations associated with pancreatic insufficiency (PI). 26096753 2017
dbSNP: rs78655421
rs78655421
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C4021107
Disease:
Non-obstructive azoospermia
0.010 GeneticVariation BEFREE In conclusion, the polyvariant mutant genes of CFTR: T5 allele and TG12-T5-V470 genotype are correlated with NOA, but F508del and R117H mutations have low possibility to be associated with NOA. 28456595 2017
dbSNP: rs1800080
rs1800080
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
0.010 GeneticVariation BEFREE Whereas all have been reported in the dbSNP database, only p.Ala334Thr, p.Val573Ile, and p.Thr663Ala in SCNN1A, p.Gly442Val in SCNN1B and p.Gly183Ser in SCNN1G were previously reported in ENaC genetic studies of CF or CF-like patients. 25900089 2016
dbSNP: rs213950
rs213950
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0266292
Disease:
Congenital anomaly of the kidney
0.010 GeneticVariation BEFREE Five novel CFTR gene variants (c.621+91A>G, c.2752+106A>T, c.2751+85_88delTA, c.3120+529InsC and c.4375-69C>T), four potential regulatory CFTR gene variants (M470V, T854T, P1290P, Q1463Q) and seven previously reported CFTR gene variants (c.196+12T>C, c.875+40A>G, c.3041-71G>C, c.3271+42A>T, c.3272-93T>C, c.3500-140A>C and c.3601-65C>A) were detected in infertile men having CBAVD and renal anomalies Interpretation & conclusions: Based on our findings, we speculate that CBAVD-URA may also be attributed to CFTR gene mutations and can be considered as CFTR-related disorder (CFTR-RD). 27488005 2016
dbSNP: rs39315
rs39315
Entrez Id: 1080;7472
Gene Symbol: CFTR;WNT2
CFTR;WNT2
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE The AXIN1 rs1805105 T>C SNP was associated with small tumor size and early tumor stage and the WNT2 rs39315 G allele was associated with advanced tumor stage in HCC. 26968103 2016
dbSNP: rs39315
rs39315
Entrez Id: 1080;7472
Gene Symbol: CFTR;WNT2
CFTR;WNT2
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE The AXIN1 rs1805105 T>C SNP was associated with small tumor size and early tumor stage and the WNT2 rs39315 G allele was associated with advanced tumor stage in HCC. 26968103 2016
dbSNP: rs397508786
rs397508786
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
0.010 GeneticVariation BEFREE The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies. 26911355 2016