Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis
0.400 GeneticVariation disease BEFREE Idiopathic chronic and acute recurrent pancreatitis (IP) have been associated with mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. 12825076 2003
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis
0.400 GeneticVariation disease BEFREE At least one CFTR mutation or variant was carried in 18 of 40 patients (45%) with idiopathic chronic pancreatitis and in 6 of 16 patients (38%) with idiopathic recurrent acute pancreatitis but in only 11 of the 50 controls (22%, P=0.005). 16193325 2005
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis
0.400 GeneticVariation disease BEFREE Association of pancreas divisum and recurrent acute pancreatitis with the IVS8-5T-12TG allele of the CFTR gene and CFTR dysfunction. 17575549 2007
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis
0.400 Biomarker disease BEFREE Cystic fibrosis transmembrane conductance regulator ion channel function testing in recurrent acute pancreatitis. 18360295 2008
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis
0.400 GeneticVariation disease BEFREE The aim of this study was to investigate the association of cystic fibrosis transmembrane conductance regulator (CFTR) and serine protease inhibitor Kazal type 1 (SPINK-1) gene mutations and monocyte chemoattractant protein 1 (MCP-1) -2518A/G polymorphism with acute pancreatitis (AP), acute recurrent pancreatitis (ARP), and chronic pancreatitis (CP), and to associate genetic backgrounds with clinical phenotype in these three conditions. 19844201 2010
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis
0.400 GeneticVariation disease BEFREE New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ? 20950468 2010
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis
0.400 GeneticVariation disease BEFREE We assessed the CFTR gene in a young male patient with pancreas divisum and recurrent acute pancreatitis. 23416327 2013
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis
0.400 GermlineCausalMutation disease ORPHANET CFTR, SPINK1, PRSS1, and CTRC mutations are not associated with pancreatic cancer in German patients. 25003218 2014
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis
0.400 GermlineCausalMutation disease ORPHANET Genetic and electrophysiological characteristics of recurrent acute pancreatitis. 25383785 2015
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis
0.400 Biomarker disease BEFREE Complete diagnostic testing for CFTR-RD in patients with ARP/CP will broaden treatment options and help to identify comorbid illness. 31268981 2019
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis
0.400 Biomarker disease BEFREE With CFTR modulators restoring some pancreatic function, CF clinicians should have increased vigilance for the development of ARP. 31420175 2019
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis
0.400 Biomarker disease BEFREE Cystic fibrosis transmembrane conductance regulator functional evaluations in a G542X+/- IVS8Tn:T7/9 patient with acute recurrent pancreatitis. 31799301 2019