Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation CLINVAR In a family with clinical evidence of hereditary chronic pancreatitis, a missense mutation of codon 22 (GAC-->GGC) of the cationic trypsinogen was found. 10930381

2000
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: 6690
Gene Symbol: SPINK1
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation CLINVAR

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 GeneticVariation CLINVAR Expression of mutated cationic trypsinogen reduces cellular viability in AR4-2J cells. 16036133

2005
Entrez Id: 11330
Gene Symbol: CTRC
CTRC
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.750 GeneticVariation CLINVAR Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk. 22942235

2013
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.730 GeneticVariation CLINVAR

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 SusceptibilityMutation CLINVAR Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy. 17466744

2007
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: 6690
Gene Symbol: SPINK1
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 SusceptibilityMutation CLINVAR Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene. 17568390

2007
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 SusceptibilityMutation CLINVAR Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. 10835640

2000
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 SusceptibilityMutation CLINVAR Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis. 18414673

2008
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 The true culprit within the SPINK1 p.N34S-containing haplotype is still at large. 19299380

2009
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 SusceptibilityMutation CLINVAR Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation. 17525091

2007
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 SusceptibilityMutation CLINVAR Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitution. 12483248

2002
Entrez Id: 11330
Gene Symbol: CTRC
CTRC
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.750 SusceptibilityMutation CLINVAR CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated? 22427236

2013
Entrez Id: 11330
Gene Symbol: CTRC
CTRC
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.750 SusceptibilityMutation CLINVAR Chronic pancreatitis: genetics and pathogenesis. 19453252

2009
Entrez Id: 11330
Gene Symbol: CTRC
CTRC
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.750 SusceptibilityMutation CLINVAR Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk. 22942235

2013
Entrez Id: 11330
Gene Symbol: CTRC
CTRC
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.750 SusceptibilityMutation CLINVAR The Common Chymotrypsinogen C (CTRC) Variant G60G (C.180T) Increases Risk of Chronic Pancreatitis But Not Recurrent Acute Pancreatitis in a North American Population. 25569187

2015
Entrez Id: 11330
Gene Symbol: CTRC
CTRC
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.750 SusceptibilityMutation CLINVAR Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis. 18172691

2008
Entrez Id: 11330
Gene Symbol: CTRC
CTRC
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.750 SusceptibilityMutation CLINVAR Here we have analyzed the gene encoding the trypsin-degrading enzyme chymotrypsin C (CTRC) in German subjects with idiopathic or hereditary chronic pancreatitis. 18059268

2008
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation CLINVAR Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. 10835640

2000