PRSS1, serine protease 1, 5644

N. diseases: 117; N. variants: 33
Disease: Hereditary pancreatitis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.820 CausalMutation CLINVAR SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis. 30420730 2018
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.820 CausalMutation CLINVAR Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis. 24458023 2014
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.820 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
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.820 CausalMutation CLINVAR We found that in the presence of CTRC, trypsinogen mutants associated with classic hereditary pancreatitis (N29I, N29T, V39A, R122C, and R122H) autoactivated at increased rates and reached markedly higher active trypsin levels compared with wild-type cationic trypsinogen. 22539344 2012
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.820 CausalMutation CLINVAR Chronic pancreatitis: genetics and pathogenesis. 19453252 2009
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.820 CausalMutation CLINVAR Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families. 19454815 2009
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.820 GeneticVariation BEFREE The first mutation was detected at the R122 autocleavage site of the protein (R122H) and subsequently two other mutations in this region, R122C and V123M, were described that resulted in a similar phenotype of hereditary pancreatitis. 18511571 2008
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.820 CausalMutation CLINVAR Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis. 18272034 2008
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.820 CausalMutation CLINVAR Hereditary chronic pancreatitis. 17204147 2007
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.820 CausalMutation CLINVAR Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene. 17568390 2007
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.820 CausalMutation CLINVAR Analysis of CFTR, SPINK1, PRSS1 and AAT mutations in children with acute or chronic pancreatitis. 16954950 2006
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.820 CausalMutation CLINVAR Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis. 16791840 2006
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.820 GeneticVariation UNIPROT Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl. 15776435 2005
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.820 GeneticVariation UNIPROT Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2). 14695529 2004
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.820 CausalMutation CLINVAR Here we report a family with hereditary pancreatitis that carries a novel PRSS1 mutation (R122C). 11719509 2002
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.820 GeneticVariation UNIPROT Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants. 11866271 2002
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.820 CausalMutation CLINVAR Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis. 11788572 2002
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.820 GeneticVariation UNIPROT Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis. 11788572 2002
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.820 GeneticVariation BEFREE Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122 --> Cys) that alters autoactivation and autodegradation of cationic trypsinogen. 11719509 2002
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.820 CausalMutation CLINVAR Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography. 11734061 2001
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.820 GeneticVariation UNIPROT A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis. 11073545 2000
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.820 GeneticVariation UNIPROT Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation. 10930381 2000
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.820 GeneticVariation UNIPROT A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis. 10381903 1999
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.820 GeneticVariation UNIPROT Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis. 10204851 1999
dbSNP: rs111033568
rs111033568
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.820 GeneticVariation UNIPROT Mutations of the cationic trypsinogen in hereditary pancreatitis. 9633818 1998