CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: pancreatitis idiopathic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		0.100 GeneticVariation disease BEFREE Pathogenic variants of PRSS1, SPINK1, and CFTR were associated with idiopathic pancreatitis, while pathogenic variants of CTRC were not. 27578509 2016
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		0.100 GeneticVariation disease BEFREE The aim of this review is to provide a general overview of CFTR mutation-associated pancreatitis, which affects patients with pancreatic sufficient CF, CFTR-related pancreatitis, and idiopathic pancreatitis. 22658665 2012
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		0.100 GeneticVariation disease BEFREE CFTR gene mutation in patients with apparently idiopathic pancreatitis: lack of phenotype-genotype correlation. 20460946 2010
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		0.100 GeneticVariation disease BEFREE Association of SPINK1 gene mutation and CFTR gene polymorphisms in patients with pancreas divisum presenting with idiopathic pancreatitis. 19593166 2009
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		0.100 GeneticVariation disease BEFREE In addition, alterations in the cystic fibrosis (CFTR) gene are associated with idiopathic pancreatitis. 18604651 2008
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		0.100 Biomarker disease BEFREE Patients presenting with recurrent, "idiopathic" pancreatitis require CFTR function testing. 18360295 2008
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		0.100 GeneticVariation disease BEFREE Remarkably, in all three affected individuals, the SPINK1 deletion was found to be co-inherited with a heterozygous p.L997F missense mutation in the unlinked CFTR gene, a lesion previously reported to be associated with a variety of cystic fibrosis-related diseases including idiopathic pancreatitis. 17681820 2007
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		0.100 GeneticVariation disease BEFREE Mild mutations or variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, including the IVS8-5T variant, are associated with idiopathic pancreatitis, but their relationship with PD is unknown.We hypothesized for such association. 17575549 2007
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		0.100 Biomarker disease BEFREE The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis. 16193325 2005
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		0.100 GeneticVariation disease BEFREE The risk of idiopathic pancreatitis is greater among persons with CFTR mutations as compared to persons without CFTR mutations. 15233679 2004
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		0.100 GeneticVariation disease BEFREE An increased incidence of CFTR mutations has recently been reported in chronic and idiopathic pancreatitis. 12779072 2003
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		0.100 GeneticVariation disease BEFREE Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with different related disorders such as congenital bilateral absence of the vas deferens, chronic idiopathic pancreatitis, or disseminated bronchiectasis (DB). 12123489 2002
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		0.100 GeneticVariation disease BEFREE Atypical 'mild' mutations in the CFTR gene have been linked to late-onset pulmonary disease, congenital bilateral absence of the vas deferens, and idiopathic pancreatitis. 11737931 2001
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		0.100 Biomarker disease BEFREE The CFTR gene may be involved in IP and NHNST, while the Try4 gene may be involved in IP, but not in NHNST, in this limited series of observations. 12120234 2001
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		0.100 GeneticVariation disease BEFREE Pancreatitis-associated gene mutations have been reported in patients with hereditary pancreatitis and idiopathic pancreatitis in the Caucasian population and involve the cationic trypsinogen gene, the pancreatic secretory trypsin inhibitor gene and the cystic fibrosis transmembrane conductance regulator gene. 12120222 2001
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		0.100 GeneticVariation disease BEFREE Twenty patients with idiopathic pancreatitis (11 women, nine men; mean age, 30 yr) were studied for the presence of a CFTR mutation by screening the genomic DNA for more than 30 mutations and variants in the CFTR gene. 10950058 2000
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		0.100 GeneticVariation disease BEFREE We examined whether idiopathic pancreatitis is associated with CFTR mutations in persons who do not have lung disease of cystic fibrosis. 9725922 1998