PRSS1, serine protease 1, 5644

N. diseases: 117; N. variants: 33
Disease: Autoimmune pancreatitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2609129
Disease: Autoimmune pancreatitis
Autoimmune pancreatitis 		0.050 GeneticVariation disease BEFREE Recently, we have demonstrated that PRSS1 mutations cause ectopic trypsinogen activation and thereby result in type 1 autoimmune pancreatitis (AIP). 28151472 2017
CUI: C2609129
Disease: Autoimmune pancreatitis
Autoimmune pancreatitis 		0.050 GeneticVariation disease BEFREE Human cationic trypsinogen but not serine peptidase inhibitor, Kazal type 1 variants increase the risk of type 1 autoimmune pancreatitis. 24909264 2014
CUI: C2609129
Disease: Autoimmune pancreatitis
Autoimmune pancreatitis 		0.050 GeneticVariation disease BEFREE Identification of a novel frame-shift mutation in PRSS1 gene in Han patients with autoimmune pancreatitis. 24236450 2014
CUI: C2609129
Disease: Autoimmune pancreatitis
Autoimmune pancreatitis 		0.050 GeneticVariation disease BEFREE Autoimmune pancreatitis may be related to PRSS1 gene mutations. 23745036 2013
CUI: C2609129
Disease: Autoimmune pancreatitis
Autoimmune pancreatitis 		0.050 GeneticVariation disease BEFREE We here describe a case of chronic pancreatitis with an onset at a very young age in which a mutation of the PRSS1 and several features of autoimmune pancreatitis were identified. 18442214 2008