Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1357
Gene Symbol: CPA1
CPA1
0.630 Biomarker disease GENOMICS_ENGLAND Genetic risk in chronic pancreatitis: the misfolding-dependent pathway. 28650851 2017
Entrez Id: 1357
Gene Symbol: CPA1
CPA1
0.630 Biomarker disease BEFREE The best characterized misfolding variants in the highly expressed digestive proteases cationic trypsinogen (PRSS1) and carboxypeptidase A1 (CPA1) are strong, causative risk factors for chronic pancreatitis and may be associated with autosomal dominant hereditary pancreatitis. 28650851 2017
Entrez Id: 1357
Gene Symbol: CPA1
CPA1
0.630 GeneticVariation disease BEFREE Genetic alterations in the carboxypeptidase A1 gene (CPA1) are associated with early onset chronic pancreatitis (CP). 26316592 2015
Entrez Id: 1357
Gene Symbol: CPA1
CPA1
0.630 Biomarker disease BEFREE We analyzed CPA1, encoding carboxypeptidase A1, in subjects with nonalcoholic chronic pancreatitis (cases) and controls in a German discovery set and three replication sets. 23955596 2013
Entrez Id: 1357
Gene Symbol: CPA1
CPA1
0.630 Biomarker disease CTD_human Variants in CPA1 are strongly associated with early onset chronic pancreatitis. 23955596 2013
Entrez Id: 1357
Gene Symbol: CPA1
CPA1
0.630 Biomarker disease HPO
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.500 GeneticVariation disease BEFREE The SPINK1 c.194 + 2T > C variant is a strong risk factor for CP, especially in East Asian patients with ICP. 31401021 2020
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.500 AlteredExpression disease BEFREE While CFTR modulation has been shown to alkalinize the pH of the alimentary tract and potentially augment pancreatic enzyme activity, the effect of ivacaftor on recurrent pancreatitis is emerging. 31296159 2019
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.500 GeneticVariation disease BEFREE We describe the case of a middle-aged male who presented with recurrent pancreatitis in the setting of the serine peptidase inhibitor, Kazal type 1 (SPINK-1) genetic polymorphism. 30891392 2019
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
0.500 Biomarker disease BEFREE Having a variant from CFTR, SPINK1 or PRSS1, was associated with the faster progression from AP to CP over time (p < 0.05). 31088717 2019
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
0.500 GeneticVariation disease BEFREE Children with pathogenic PRSS1 variants progressed more rapidly to CP compared to children without PRSS1 variants (median time to CP: 2.52 vs 4.48 years; P = 0.003). 31136562 2019
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
0.500 GeneticVariation disease BEFREE Previous studies revealed somatic mutations of the cationic trypsinogen gene (PRSS1) in patients with chronic pancreatitis and pancreatic cancer. 31521106 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.500 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
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.500 Biomarker disease BEFREE Having a variant from CFTR, SPINK1 or PRSS1, was associated with the faster progression from AP to CP over time (p < 0.05). 31088717 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.500 GeneticVariation disease BEFREE Having a variant from CFTR, SPINK1 or PRSS1, was associated with the faster progression from AP to CP over time (p < 0.05). 31088717 2019
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.500 GeneticVariation disease BEFREE The clinical significance of SPINK1 intronic variants in chronic pancreatitis has been previously assessed by various approaches including a cell culture-based full-length gene assay. 30755276 2019
Entrez Id: 11330
Gene Symbol: CTRC
CTRC
0.500 Biomarker disease BEFREE We provide evidence that rare pathogenic variants in the SPINK1, PRSS1, CTRC, and CFTR genes significantly influence the age of onset and clinical outcomes of CP. 30420730 2018
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
0.500 GeneticVariation disease BEFREE Here we analysed whether common variants in the CLDN2-MORC4 and the PRSS1-PRSS2 locus that increase recurrent AP and CP risk associate with AP. 29884332 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.500 GeneticVariation disease BEFREE SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis. 30420730 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.500 GeneticVariation disease BEFREE We compared outcomes after TPIAT for CP associated with CFTR mutations to CP without CTFR mutations. 29206667 2018
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.500 AlteredExpression disease BEFREE The primary aim of this study was to determine the blood levels of SPINK1 in patients with chronic pancreatitis (CP) submitted to surgical or endoscopic decompression of pancreatic duct (PD). 29525377 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.500 GeneticVariation disease BEFREE F508 deletion in CFTR was significantly positively associated with CP risk in the overall analysis (odds ratio [OR]=3.20, 95% CI: 2.30-4.44, I<sup>2</sup>=31.7%). 28780053 2017
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.500 Biomarker disease BEFREE Mutations, especially those in PRSS1, SPINK1, and CFTR, accounted for the major etiologies in Chinese children with CP or ARP. 29173301 2017
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.500 GeneticVariation disease BEFREE On multivariate analysis idiopathic etiology (p<0.03), presence of SPINK1 mutation (p=0.01), longer follow-up (p<0.001) were associated with progression to CP. 28320629 2017
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.500 GeneticVariation disease BEFREE Those preliminary data suggest low prevalence of SPINK1 and PRSS1 mutations in the Chinese population, generally, as well as in CP patients, indicating that these mutations do not contribute to the development of CP. 29641165 2017