Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 SusceptibilityMutation CLINVAR SPINK1 Gene is Significantly Associated With Pancreatitis: A Comprehensive Meta-Analysis. 28984793

2018
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation CLINVAR SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis. 30420730

2018
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 SusceptibilityMutation CLINVAR Meta-analysis of the impact of SPINK1 p.N34S gene variation in Caucasic patients with chronic pancreatitis. An update. 28546062

2017
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 SusceptibilityMutation CLINVAR Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype. 28556356

2017
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation 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
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation 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
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation CLINVAR Genetic and electrophysiological characteristics of recurrent acute pancreatitis. 25383785

2015
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation CLINVAR Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis. 23455445

2014
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation 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
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation CLINVAR PRSS1 c.623G>C (p.G208A) variant is associated with pancreatitis in Japan. 23686146

2014
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation CLINVAR Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis. 24458023

2014
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 SusceptibilityMutation CLINVAR A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients. 23951356

2013
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation CLINVAR Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and SPINK1 mutation. 23741238

2013
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation CLINVAR The contribution of the SPINK1 c.194+2T>C mutation to the clinical course of idiopathic chronic pancreatitis in Chinese patients. 23017645

2013
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation CLINVAR Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study. 24002981

2013
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation CLINVAR Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants. 23601753

2013
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation CLINVAR An overview of hereditary pancreatitis. 21907651

2012
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation CLINVAR Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred. 22572128

2012
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation CLINVAR Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C. 22539344

2012
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation CLINVAR Genetics and pathogenesis of chronic pancreatitis: the 2012 update. 22749696

2012
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation CLINVAR High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis. 21415673

2011
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation CLINVAR The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families. 19951905

2010
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation CLINVAR Genetic, epidemiological, and clinical aspects of hereditary pancreatitis: a population-based cohort study in Denmark. 20502448

2010
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation CLINVAR The natural history of hereditary pancreatitis: a national series. 18755888

2009
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation CLINVAR Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis. 18978175

2009