PRSS2, serine protease 2, 5645

N. diseases: 66; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.140 GeneticVariation disease BEFREE Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. 23143602 2012
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.140 GeneticVariation disease BEFREE These individuals and 100 patients with pHPT without pancreatitis were analysed for CTRC (p.R254W and p.K247_R254del) and PRSS2 (p.G191R) mutations using melting curve analysis and DNA sequencing or PCR and gel electrophoresis (in case of p.K247_R254del CTRC). 20625975 2011
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.140 Biomarker disease LHGDN Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation. 18461367 2008
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.140 GeneticVariation disease BEFREE In contrast, no pancreatitis-associated mutations have been found in the anionic trypsinogen gene (PRSS2), suggesting that this isoform might play a relatively unimportant role in pancreatitis. 14695529 2004
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.140 Biomarker disease HPO