PRSS1, serine protease 1, 5644

N. diseases: 117; N. variants: 33
Disease: Hereditary pancreatitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR We now report that an Arg-His substitution at residue 117 of the cationic trypsinogen gene is associated with the HP phenotype. 8841182 1996
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE We now report that an Arg-His substitution at residue 117 of the cationic trypsinogen gene is associated with the HP phenotype. 8841182 1996
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease UNIPROT We now report that an Arg-His substitution at residue 117 of the cationic trypsinogen gene is associated with the HP phenotype. 8841182 1996
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 Biomarker disease CTD_human We now report that an Arg-His substitution at residue 117 of the cationic trypsinogen gene is associated with the HP phenotype. 8841182 1996
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. 9322498 1997
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease UNIPROT Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. 9322498 1997
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE A small proportion of cases results from inherited predisposition due to germline transmission of a mutated CDKN2 or BRCA2 gene, while patients with familial pancreatitis due to a mutated cationic trypsinogen gene have a greatly increased risk of developing pancreatic cancer. 9438601 1997
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Mutations of the cationic trypsinogen gene have been found to be causative for hereditary pancreatitis with important implications for the molecular pathogenesis of acute and chronic pancreatitis. 9438603 1997
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Recently, an arginine-histidine (R117H) mutation within the cationic trypsinogen gene was found in 5/5 families studied with HP. 9557894 1998
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease UNIPROT Mutations of the cationic trypsinogen in hereditary pancreatitis. 9633818 1998
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Mutations of the cationic trypsinogen in hereditary pancreatitis. 9633818 1998
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE This position contrasts with that in hereditary pancreatitis in which a mutation in the cationic trypsinogen gene leads to a form of trypsin that resists degradation by mesotrypsin and enzyme Y. 9832635 1998
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Mutations in the cationic trypsinogen gene on chromosome 7 are known to cause HP. 9853929 1998
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE These results show heterogeneity, but no racial specificity, in the cationic trypsinogen gene mutations in hereditary pancreatitis kindreds. 9895387 1999
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease UNIPROT The gene, or at least one of the genes, responsible for hereditary pancreatitis has been mapped to the long arm of chromosome 7 and a missense mutation, an arginine to histidine substitution at residue 117 in the trypsinogen cationic gene (try4) has been shown to segregate with the HP phenotype. 10204851 1999
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE The gene, or at least one of the genes, responsible for hereditary pancreatitis has been mapped to the long arm of chromosome 7 and a missense mutation, an arginine to histidine substitution at residue 117 in the trypsinogen cationic gene (try4) has been shown to segregate with the HP phenotype. 10204851 1999
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR The gene, or at least one of the genes, responsible for hereditary pancreatitis has been mapped to the long arm of chromosome 7 and a missense mutation, an arginine to histidine substitution at residue 117 in the trypsinogen cationic gene (try4) has been shown to segregate with the HP phenotype. 10204851 1999
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE A mutation in the cationic trypsinogen gene was detected in 5 patients: in 2 patients with a family history of CP and in 3 patients with idiopathic CP. 10381903 1999
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease UNIPROT A mutation in the cationic trypsinogen gene was detected in 5 patients: in 2 patients with a family history of CP and in 3 patients with idiopathic CP. 10381903 1999
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR A mutation in the cationic trypsinogen gene was detected in 5 patients: in 2 patients with a family history of CP and in 3 patients with idiopathic CP. 10381903 1999
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Nine out of 48 (19%) patients referred to a pancreatic clinic with a presumed diagnosis of idiopathic chronic pancreatitis have been shown to have mutations in the cationic trypsinogen gene (PRSSI), consistent with a previously unsuspected diagnosis of hereditary pancreatitis. 10406366 1999
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Blood levels of pancreatic enzymes and PAP were measured in nine families with hereditary pancreatitis; in three of them, the mutation N21I, and in six, the R117H variant of the cationic trypsinogen were present. 10505755 1999
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Mutations Arg(117) --> His and Asn(21) --> Ile in human trypsinogen-I have been recently associated with hereditary pancreatitis (HP). 10514442 1999
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Mutations Arg117-->His and Asn21-->Ile of the human cationic trypsinogen have been recently identified in patients affected by hereditary pancreatitis (HP). 10529393 1999
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE The discovery of mutations in the cationic trypsinogen gene in patients with hereditary pancreatitis and a high incidence of mutations in the cystic fibrosis transmembrane conductance regulator gene in patients with chronic pancreatitis might be important clues to understanding the molecular mechanisms of this disease. 10529791 1999