Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		0.800 GeneticVariation disease BEFREE Mutations in the trypsinogen gene (PRSS1) cause human hereditary pancreatitis. 31419436 2020
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		0.800 GeneticVariation disease BEFREE In 1996, mutations in PRSS1 were linked to the development of HP. 31550238 2020
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		0.800 GeneticVariation disease BEFREE Mutations in the <i>PRSS1</i> (serine protease 1) gene encoding human cationic trypsinogen cause hereditary pancreatitis or may be associated with sporadic chronic pancreatitis. 30792736 2019
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1 		0.800 SusceptibilityMutation disease CLINVAR SPINK1 Gene is Significantly Associated With Pancreatitis: A Comprehensive Meta-Analysis. 28984793 2018
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		0.800 CausalMutation disease CLINVAR SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis. 30420730 2018
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		0.800 GeneticVariation disease BEFREE Hereditary pancreatitis (HP), an autosomal dominant disease typically caused by mutations in PRSS1, has a broad range of clinical characteristics and high cumulative risk of pancreatic cancer. 30018304 2018
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		0.800 Biomarker disease BEFREE Age and Disease Duration Impact Outcomes of Total Pancreatectomy and Islet Autotransplant for PRSS1 Hereditary Pancreatitis. 29517634 2018
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1 		0.800 GeneticVariation disease BEFREE PRSS1 and SPINK1 mutations serve as genetic background for HP in Japan. 28861620 2018
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		0.800 GeneticVariation disease BEFREE PRSS1 and SPINK1 mutations serve as genetic background for HP in Japan. 28861620 2018
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1 		0.800 SusceptibilityMutation disease CLINVAR Meta-analysis of the impact of SPINK1 p.N34S gene variation in Caucasic patients with chronic pancreatitis. An update. 28546062 2017
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		0.800 GeneticVariation disease BEFREE Mutations of PRSS1 gene were found in 80% (33/41) of HP patients. 27179762 2017
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1 		0.800 SusceptibilityMutation disease CLINVAR Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype. 28556356 2017
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		0.800 GeneticVariation disease BEFREE Despite 90% identity with PRSS1 and a strong propensity for autoactivation, mutations in PRSS2 are not found in hereditary pancreatitis suggesting that activation of this isoform is more tightly regulated. 27129265 2016
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1 		0.800 Biomarker disease GENOMICS_ENGLAND Analysis of protein-coding genetic variation in 60,706 humans. 27535533 2016
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1 		0.800 CausalMutation disease CLINVAR Serine Protease Inhibitor Kazal Type 1 (SPINK1) c.194+2T > C Mutation May Predict Long-term Outcome of Endoscopic Treatments in Idiopathic Chronic Pancreatitis. 26632706 2015
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		0.800 GeneticVariation disease BEFREE Mutations of the human cationic trypsinogen gene (PRSS1) are frequently found in association with hereditary pancreatitis. 25546417 2015
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		0.800 CausalMutation disease CLINVAR The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis. 24780743 2015
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		0.800 GeneticVariation disease CLINVAR Genetic and electrophysiological characteristics of recurrent acute pancreatitis. 25383785 2015
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		0.800 GeneticVariation disease BEFREE A mutation in the PRSS1 gene is present in greater than 70% of HP kindreds and leads to a gain-of-function characterized by the increased autocatalytic conversion of trypsinogen to active trypsin, promoting autodigestion and damage to acinar cells. 26376395 2015
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		0.800 CausalMutation disease CLINVAR Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis. 23455445 2014
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		0.800 Biomarker disease BEFREE In summary, PRSS1 hereditary pancreatitis is characterized by progressive lipomatous atrophy of the pancreas. 24525505 2014
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		0.800 GeneticVariation disease BEFREE Hereditary pancreatitis is caused by mutations in human cationic trypsinogen (PRSS1) which lead to increased autoactivation by altering chymotrypsin C (CTRC)-dependent trypsinogen activation and degradation. 23455445 2014
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		0.800 CausalMutation disease CLINVAR Chronic pancreatitis associated with the p.G208A variant of PRSS1 gene in a European patient. 24413785 2014
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		0.800 CausalMutation disease CLINVAR PRSS1 c.623G>C (p.G208A) variant is associated with pancreatitis in Japan. 23686146 2014
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1 		0.800 CausalMutation disease CLINVAR Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis. 24458023 2014