PRSS1, serine protease 1, 5644

N. diseases: 117; N. variants: 33
Disease: Hereditary pancreatitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GermlineCausalMutation disease ORPHANET A rare PRSS1 mutation in a Turkish family with hereditary chronic pancreatitis. 23864476 2012
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C. 22539344 2012
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR Genetics and pathogenesis of chronic pancreatitis: the 2012 update. 22749696 2012
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis. 21415673 2011
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE This is the first report of an intragenic duplication within the PRSS1 gene causing hereditary pancreatitis. 21499207 2011
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE We believe that interaction between the novel IVS3+172 intronic variant and p.N29I mutation in the PRSS1 gene is associated with HP in this Malaysian Chinese family. 21952138 2011
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families. 19951905 2010
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE The etiology of acute pancreatitis (AP) seems to have changed during the last two decades, and since detection of mutations in the gene for cationic trypsinogen(PRSS1) causing hereditary pancreatitis some patients formerly diagnosed with idiopathic AP (IAP) turn out to have a genetic cause. 20720446 2010
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR Genetic, epidemiological, and clinical aspects of hereditary pancreatitis: a population-based cohort study in Denmark. 20502448 2010
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations. 20452997 2010
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR The natural history of hereditary pancreatitis: a national series. 18755888 2009
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Mutations in the PRSS1 and the SPINK1 genes have variably been associated with alcohol-related, idiopathic and hereditary chronic pancreatitis (CP). 19657220 2009
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families. 19454815 2009
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Ten children were included.Eight had HP with PRSS1 mutation, 2 of them without a familial history of chronic pancreatitis. 19944211 2009
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE The results indicate that mutation-induced misfolding and intracellular retention of human cationic trypsinogen causes hereditary pancreatitis in carriers of the p.R116C mutation. 19191323 2009
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE PRSS1 and SPINK1 mutations were not rare in Korean patients with idiopathic and familial pancreatitis. 18852684 2009
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR Chronic pancreatitis: genetics and pathogenesis. 19453252 2009
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE One of the affected members of an HP family had c.361 G > A mutation and polymorphism (c.488 C > T) in the PRSS1 gene at the same time. 18272034 2008
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 Biomarker disease BEFREE We have recently reported that the triplication of a approximately 605 kilobase segment containing the PRSS1 (encoding cationic trypsinogen) and PRSS2 (encoding anionic trypsinogen) genes causes hereditary pancreatitis. 18063422 2008
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE The R122H mutation represents the most common point mutation of the cationic trypsinogen gene (PRSS1) in patients with hereditary pancreatitis (HP; Online Mendelian inheritance in man [OMIM] 167800), a rare variety of chronic pancreatitis. 18702646 2008
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE In 1996, shortly after a locus for hereditary pancreatitis had been mapped to chromosome 7q35, an apparent gain-of-function missense mutation, p.R122H, in the cationic trypsinogen gene (PRSS1) was identified. 19287144 2008
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Whether the histopathological picture or the BRAF mutation is specific for patients with PRSS1 mutations or plays a specific role in the tumorigenesis of patients with HP needs to be further evaluated. 18946221 2008
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Here we demonstrate a heterozygous hybrid PRSS2 (encoding anionic trypsinogen)/PRSS1 gene in a French white family with hereditary pancreatitis, by means of quantitative fluorescent multiplex PCR and RT-PCR analyses. 18461367 2008
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis. 18272034 2008
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE The novel PRSS1 A121T mutation highlights the surface exposed region PRSS1 A121-R122-V123 as a hotspot for hereditary pancreatitis associated trypsinogen mutations. 18511571 2008