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 Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. 10835640 2000
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR Serine Protease Inhibitor Kazal Type 1 (SPINK1) c.194+2T > C Mutation May Predict Long-term Outcome of Endoscopic Treatments in Idiopathic Chronic Pancreatitis. 26632706 2015
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 SusceptibilityMutation disease CLINVAR A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients. 23951356 2013
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR [-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site. 16849362 2006
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE PRSS1 and SPINK1 mutations were not rare in Korean patients with idiopathic and familial pancreatitis. 18852684 2009
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease UNIPROT Gene symbol: Spink1-Omim 167790. Disease: Hereditary pancreatitis. 12974284 2003
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GermlineCausalMutation disease ORPHANET The results provide the first clear experimental demonstration that alterations that markedly reduce SPINK1 expression are associated with classic hereditary pancreatitis. 17274009 2007
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 SusceptibilityMutation disease CLINVAR Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy. 17466744 2007
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE We investigated the prevalence of SPINK1 (PSTI) mutations in familial pancreatitis, idiopathic chronic pancreatitis, and controls. 10982753 2000
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Using recombinant normal sequence PSTI/tumor-associated trypsin inhibitor (TATI), a variant associated with familial pancreatitis (N34S), an active site-inactivated variant (R18/V19), and immunoneutralization and RNA interference-mediated knockdown techniques, we investigated the actions of PSTI/TATI on cell migration (wounding monolayers), collagen invasion (gel invasion assays), and proliferation (Alamar blue) on 253J, RT4, and HT1376 human bladder carcinoma cell lines. 23698120 2013
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease UNIPROT Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis. 10691414 2000
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and SPINK1 mutation. 23741238 2013
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE The purpose of this study was to report on the incidence of PRSS1 and SPINK1 mutations in a Finnish family with HP and to correlate the findings to the clinical symptoms. 17613931 2007
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE The coding regions of PRSS1 and SPINK1 genes were sequenced in 290 controls and 198 patients, of whom 120 were diagnosed as idiopathic (ICP), 41 as alcoholic (ACP), and 37 as hereditary pancreatitis (HP). 15082592 2004
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 SusceptibilityMutation disease CLINVAR SPINK1 Gene is Significantly Associated With Pancreatitis: A Comprehensive Meta-Analysis. 28984793 2018
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 SusceptibilityMutation disease CLINVAR Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene. 17568390 2007
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred. 22572128 2012
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 Biomarker disease CTD_human
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis. 18978175 2009
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 SusceptibilityMutation disease CLINVAR Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. 10835640 2000
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis. 14722925 2004
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 CausalMutation disease CLINVAR Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis. 14722925 2004
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 SusceptibilityMutation disease CLINVAR Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis. 18414673 2008
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 Biomarker disease GENOMICS_ENGLAND Analysis of protein-coding genetic variation in 60,706 humans. 27535533 2016
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease BEFREE Nine subjects had the N34S PSTI mutation and 1 had hereditary pancreatitis (R122H, PRSS1). 11729110 2001