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: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.840 CausalMutation CLINVAR An overview of hereditary pancreatitis. 21907651 2012
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.840 CausalMutation CLINVAR Genetics and pathogenesis of chronic pancreatitis: the 2012 update. 22749696 2012
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.840 CausalMutation CLINVAR Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C. 22539344 2012
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.840 CausalMutation CLINVAR Ten families with p.A16V mutations were identified (22 affected individuals): six HP families, three with idiopathic disease and one with only a single generation affected. 19951905 2010
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.840 CausalMutation CLINVAR Among HP patients, no p.N29I mutations were found and the p.A16V mutation was more frequent than previously reported, 45 and 32% had exocrine and endocrine insufficiency, respectively, and among tIP patients 9 and 12%, respectively. 20502448 2010
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.840 GeneticVariation BEFREE Ten families with p.A16V mutations were identified (22 affected individuals): six HP families, three with idiopathic disease and one with only a single generation affected. 19951905 2010
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.840 CausalMutation CLINVAR Chronic pancreatitis: genetics and pathogenesis. 19453252 2009
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.840 CausalMutation CLINVAR Chymotrypsin C (caldecrin) stimulates autoactivation of human cationic trypsinogen. 16505482 2006
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.840 GeneticVariation UNIPROT Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl. 15776435 2005
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.840 CausalMutation CLINVAR Clinical and genetic characteristics of hereditary pancreatitis in Europe. 15017610 2004
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.840 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: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.840 GeneticVariation UNIPROT The mutation R122H of the cationic trypsinogen was found in 21 index patients, N291 in six index patients, and A16V and D22G in one index patient, all from HP families. 11866271 2002
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.840 GeneticVariation UNIPROT Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis. 11788572 2002
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.840 GeneticVariation BEFREE The R117H mutation was detected in seven patients (six patients of two clinically classified HP families, one patient with clinically classified IJCP) and the A16V mutation in one IJCP patient. 11138965 2001
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.840 GeneticVariation BEFREE Among the known PRSS1 mutations, only the R122H was detected in a single subject and the A16V in two subjects in the cohort, strengthening that HP-associated PRSS1 mutations are rare in ICP. 11260229 2001
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.840 CausalMutation CLINVAR Among the known PRSS1 mutations, only the R122H was detected in a single subject and the A16V in two subjects in the cohort, strengthening that HP-associated PRSS1 mutations are rare in ICP. 11260229 2001
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.840 GeneticVariation UNIPROT Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation. 10930381 2000
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.840 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: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.840 GeneticVariation BEFREE Heterozygosity for the A16V mutation is strongly associated with CP. 10381903 1999
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		T 0.840 CausalMutation CLINVAR Heterozygosity for the A16V mutation is strongly associated with CP. 10381903 1999
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.840 GeneticVariation UNIPROT Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis. 10204851 1999
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.840 GeneticVariation UNIPROT Heterozygosity for the A16V mutation is strongly associated with CP. 10381903 1999
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.840 GeneticVariation UNIPROT Mutations of the cationic trypsinogen in hereditary pancreatitis. 9633818 1998
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.840 GeneticVariation UNIPROT Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. 9322498 1997
dbSNP: rs202003805
rs202003805
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.840 GeneticVariation UNIPROT Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. 8841182 1996