CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE Association of cystic fibrosis transmembrane conductance regulator (CFTR) mutation/variant/haplotype and tumor necrosis factor (TNF) promoter polymorphism in hyperlipidemic pancreatitis. 17981921 2008
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE In contrast, a combination of both hypercalcemia and genetic variants in SPINK1 or CFTR increases the risk to develop pancreatitis in patients with pHPT. 18076731 2008
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 Biomarker disease CTD_human Patients presenting with recurrent, "idiopathic" pancreatitis require CFTR function testing. 18360295 2008
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 Biomarker disease LHGDN Patients presenting with recurrent, "idiopathic" pancreatitis require CFTR function testing. 18360295 2008
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease LHGDN Mutation analysis of the CFTR gene therefore appears to be of limited diagnostic and prognostic value in the management of chronic pancreatitis. 17943404 2007
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease LHGDN Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis. 17489851 2007
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease LHGDN These observations suggest that impaired epithelial ion transport due to mild CFTR genotype (namely, IVS8-5T-TG12) might be involved as a triggering factor in acute onsets of pancreatitis in PD, possibly through abnormal pancreatic fluid secretion. 17575549 2007
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE CFTR gene mutations in pancreatitis: Frequency and clinical manifestations in an Austrian patient cohort. 17943404 2007
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE These observations suggest that impaired epithelial ion transport due to mild CFTR genotype (namely, IVS8-5T-TG12) might be involved as a triggering factor in acute onsets of pancreatitis in PD, possibly through abnormal pancreatic fluid secretion. 17575549 2007
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 Biomarker disease BEFREE A model of interactions between environmental triggers of pancreatic inflammation and disease susceptibility or modifying genes (including PRSS1, SPINK1 and CFTR) provides a framework within which to understand disease pathogenesis. 17090903 2006
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease LHGDN We analyzed 381 patients with a primary diagnosis of chronic or recurrent pancreatitis using the Ambry Test: Pancreatitis to obtain comprehensive genetic information for the CFTR, SPINK1, and PRSS1 genes. 17003641 2006
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease LHGDN Genetic mutations in the pancreatic secretory trypsin inhibitor and the cystic fibrosis transmembrane conductance regulator have been described to play a role in the development of pancreatitis as well. 16764792 2006
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE We analyzed 381 patients with a primary diagnosis of chronic or recurrent pancreatitis using the Ambry Test: Pancreatitis to obtain comprehensive genetic information for the CFTR, SPINK1, and PRSS1 genes. 17003641 2006
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE No association between CFTR mutations and pancreatitis was observed. 16954950 2006
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE It summarizes recent studies on the relationship between CFTR mutations and pancreatitis, and it reviews several unresolved issues in the field. 15749233 2005
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE Twelve of 56 patients with pancreatitis (21%) fulfilled current clinical criteria for the diagnosis of CF, but CFTR genotyping alone confirmed the diagnosis in only two of these patients. 16193325 2005
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease LHGDN This haplotype should be included in the genetic panel when evaluating patients of central or eastern European genetic background for possible CFTR related pancreatitis. 15775704 2005
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE The authors examine whether mild or severe CFTR mutations, homozygous or compound heterozygous CFTR mutations, or even simple cystic fibrosis carrier status alone increases the risk of developing pancreatitis. 15987793 2005
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 Biomarker disease BEFREE This haplotype should be included in the genetic panel when evaluating patients of central or eastern European genetic background for possible CFTR related pancreatitis. 15775704 2005
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE The aim of this study was to evaluate the incidence of pancreatitis in a large heterogeneous CF population, to determine the relationship with pancreatic function, and to assess whether pancreatitis is associated with specific CFTR mutations. 15772171 2005
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE It summarizes recent studies on the relationship between CFTR mutations and pancreatitis, and it reviews several unresolved issues in the field. 15528020 2004
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE Compared to the controls with a known cause of pancreatitis (N = 78), cases had a higher prevalence of CFTR mutations (19% vs 2.6%, OR = 9.4; CI, 2.1-41.7; p= 0.0005). 15233679 2004
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE CFTR and SPINK-1 mutations have been reported to increase the risk of pancreatitis, but no data are available in HIV-positive patients. 15238770 2004
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE Inheritance of polymorphisms in SPINK1 and CFTR are associated with an increased risk of developing pancreatitis. 14688470 2004
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE The length of recurrences of pancreatitis before diagnosis of chronic pancreatitis was shorter in chronic pancreatitis patients with one or more CFTR gene mutations than in the other idiopathic chronic pancreatitis patients (7.4+/-5.8 vs. 2.1+/-2 years). 12779072 2003