PRSS1, serine protease 1, 5644

N. diseases: 117; N. variants: 33
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.100 AlteredExpression disease BEFREE Increased expression of PRSS1 or PRSS1<sup>R122H</sup> increased focal damage in pancreatic tissues and increased the severity of acute pancreatitis after caerulein injection. 31419436 2020
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.100 GeneticVariation disease BEFREE The results of pooled analyses showed that CLDN2 rs7057398, MORC4 rs12688220 and PRSS1-PRSS2 rs10273639 polymorphisms were all significantly associated with susceptibility to acute pancreatitis in Caucasians. 31163246 2020
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.100 AlteredExpression disease BEFREE Disruption of the locus that encodes cationic trypsinogen in mice (T7) causes loss of expression of the protein, but only partially decreases the severity of secretagogue-induced acute pancreatitis and has no effect on chronic pancreatitis. 31751559 2020
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.100 Biomarker disease BEFREE Having a variant from CFTR, SPINK1 or PRSS1, was associated with the faster progression from AP to CP over time (p < 0.05). 31088717 2019
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.100 GeneticVariation disease BEFREE The progression to CP is faster in children who were 6 years or older at the first episode of AP or with pathogenic PRSS1 variants. 31136562 2019
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.100 GeneticVariation disease BEFREE Here we analysed whether common variants in the CLDN2-MORC4 and the PRSS1-PRSS2 locus that increase recurrent AP and CP risk associate with AP. 29884332 2018
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.100 GeneticVariation disease BEFREE Early-onset disease was associated with mutations in cationic trypsinogen (PRSS1) (P < .01), chymotrypsin C (CTRC) (P = .01), family history of acute pancreatitis (P = .02), family history of CP (P < .01), biliary cysts (P = .04), or chronic renal failure (P = .02). 28502372 2017
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.100 GeneticVariation disease BEFREE We confirmed a robust association of polymorphism rs10273639 at PRSS1-PRSS2 with AP in the Russian population. 27846138 2017
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.100 GeneticVariation disease BEFREE The study's objective was to assess the association between the PRSS1 R122H and N29I and the SPINK1 N34S mutations and acute pancreatitis (AP) and recurrent pancreatitis in Mexican pediatric patients. 22699143 2012
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.100 GeneticVariation disease BEFREE The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurrent, but not sentinel AP. 21303407 2011
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.100 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: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.100 GeneticVariation disease BEFREE Attacks of acute pancreatitis in HP subjects appear to be independent of the relative expression of the mutant PRSS1 H122 allele or SPINK1 gene expression. 16354799 2006
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.100 GeneticVariation disease BEFREE The identification of a second mutation in the cationic trypsinogen gene (HP2) suggests a dominant role of trypsin in premature protease activation-mediated forms of acute pancreatitis. 9322498 1997