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: rs111033564
rs111033564
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.710 GeneticVariation BEFREE We detected p.R122H, p.R122C, p.N29I, and p.E79K mutation in 34% (14/41), 27% (11/41), 12% (5/41), and 7% (3/41) of HP patients, respectively. 27179762 2017
dbSNP: rs111033564
rs111033564
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.710 GeneticVariation UNIPROT Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl. 15776435 2005
dbSNP: rs111033564
rs111033564
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.710 GeneticVariation UNIPROT To challenge this notion, here we describe the unique properties of the E79K cationic trypsinogen mutation (c.235G>A), which was identified in three European families affected by sporadic or familial pancreatitis cases. 14695529 2004
dbSNP: rs111033564
rs111033564
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.710 GeneticVariation UNIPROT Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis. 11788572 2002
dbSNP: rs111033564
rs111033564
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.710 GeneticVariation UNIPROT Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants. 11866271 2002
dbSNP: rs111033564
rs111033564
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.710 GeneticVariation UNIPROT Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation. 10930381 2000
dbSNP: rs111033564
rs111033564
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.710 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: rs111033564
rs111033564
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.710 GeneticVariation UNIPROT Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis. 10204851 1999
dbSNP: rs111033564
rs111033564
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.710 GeneticVariation UNIPROT A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis. 10381903 1999
dbSNP: rs111033564
rs111033564
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.710 GeneticVariation UNIPROT Mutations of the cationic trypsinogen in hereditary pancreatitis. 9633818 1998
dbSNP: rs111033564
rs111033564
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.710 GeneticVariation UNIPROT Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. 9322498 1997
dbSNP: rs111033564
rs111033564
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
CUI: C0238339
Disease:
Hereditary pancreatitis 		0.710 GeneticVariation UNIPROT Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. 8841182 1996