Disease: Pancreatitis, Chronic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 Biomarker disease HPO
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 CausalMutation disease CLINVAR
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 GeneticVariation disease BEFREE Here we analysed 96 unrelated children and adolescents with CP for mutations in the gene encoding the serine protease inhibitor, Kazal type 1 (SPINK1), a pancreatic trypsin inhibitor. 10835640 2000
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 GeneticVariation disease BEFREE Herein we analyzed genetic alterations of the PSTI gene in 32 unrelated Japanese CP patients who developed juvenile-onset CP or had a family history of CP; 5 patients were found to harbor alterations in this gene. 11355022 2001
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 Biomarker disease BEFREE Mutation analysis for the PSTI gene was performed in patients with acute or chronic pancreatitis. 11578065 2001
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 GeneticVariation disease BEFREE Mutations of the pancreatic serine protease inhibitor, Kazal type 1 (SPINK1), the cationic trypsinogen (PRSS1) and the cystic fibrosis transmembrane conductance regulator (CFTR) were reported to be genetic risk factors of chronic pancreatitis (CP). 11916201 2002
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 GeneticVariation disease BEFREE In the last 5 years, mutations in three genes, the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the pancreatic secretory trypsin inhibitor (PSTI) gene, have been found to be associated with chronic pancreatitis (CP). 11938439 2002
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 GeneticVariation disease LHGDN To detect the prevalence of SPINK1 mutations in a cohort of chronic pancreatitis patients. 11950817 2002
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 Biomarker disease BEFREE Identification of SPINK1 mutations in 12.2% of patients with adult alcoholic and idiopathic chronic pancreatitis suggests an important role for SPINK1 as a predisposing factor in adult chronic pancreatitis. 11950817 2002
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 GeneticVariation disease LHGDN Mutations of the serine protease inhibitor, Kazal type 1 gene, in patients with idiopathic chronic pancreatitis. 12014716 2002
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 GeneticVariation disease BEFREE Recently, a point mutation (N34S) in the gene encoding the serine protease inhibitor, Kazal type 1 (SPINK1), was found in approximately 20% of patients with CP. 12014716 2002
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 GeneticVariation disease LHGDN SPINK1 mutations are associated with multiple phenotypes. 12120224 2001
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 Biomarker disease BEFREE Mutations in the gene encoding for the pancreatic secretory trypsin inhibitor or serine protease inhibitor, Kazal type I (SPINK1) have been associated with different entities of chronic pancreatitis. 12120224 2001
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 GeneticVariation disease BEFREE Since the N34S variant of the SPINK1 trypsin inhibitor gene has been found to partially account for genetic susceptibility to chronic pancreatitis, we used a family-based and case-control approach in two separate ethnic groups from the Indian subcontinent, to determine whether N34S was associated with susceptibility to FCPD. 12187509 2002
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 GeneticVariation disease BEFREE Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients. 12452372 2002
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 GeneticVariation disease BEFREE Limited contribution of the SPINK1 N34S mutation to the risk and severity of alcoholic chronic pancreatitis: a report from the United States. 12822871 2003
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 GeneticVariation disease BEFREE Mutations in the cationic trypsinogen gene, however, are rarely associated with alcoholic chronic pancreatitis.Mutations in the SPINK1 gene (e.g. 12828958 2003
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 GeneticVariation disease BEFREE Mutations in cationic trypsinogen (PRSS1), cystic fibrosis transmembrane conductance regulator (CFTR), and serine protease inhibitor, Kazal type 1 (SPINK1) genes have been variably associated with both the hereditary and the idiopathic form of chronic pancreatitis (CP). 12939655 2003
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 GeneticVariation disease BEFREE The frequencies of the promotor polymorphisms of IL10-627A, IL10-1117A, TNF-238A and TNF-308A in patients with alcoholic chronic pancreatitis, idiopathic pancreatitis, SPINK1-N34S-associated chronic pancreatitis and pancreatic cancer did not differ significantly from the control group. 14560157 2003
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 GeneticVariation disease BEFREE Moreover, this family analysis supports the hypothesis that SPINK1 mutations act as disease modifier and suggests an even more complex genetic model in SPINK1 related chronic pancreatitis. 14641934 2003
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 GeneticVariation disease BEFREE The SPINK1 N34S polymorphism was detected in 5 of 172 (2.9%) patients with chronic pancreatitis, in 4 of 200 (2.0%) patients with sporadic pancreatic adenocarcinoma, in 0 of 36 (0%) of patients with familial pancreatic cancer and in 3 of 177 (1.7%) controls of chronic cholecystitis. 14688470 2004
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 GeneticVariation disease BEFREE To our knowledge, this is the first reported case of chronic pancreatitis accompanied by pancreatic cancer in a patient with the SPINK1 N34S mutation. 15084977 2004
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 GeneticVariation disease BEFREE Thus, it rather appears that in most patients with SPINK1-associated chronic pancreatitis, this genetic variant acts as disease modifier or within a polygenic model with other yet unidentified genes or environmental cofactors. 15528018 2004
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 Biomarker disease BEFREE Variants of the major intrapancreatic trypsin antagonist SPINK1 have implications for more common forms of chronic pancreatitis. 15567996 2004
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 GeneticVariation disease LHGDN Serine protease inhibitor kazal type 1 mutations and pancreatitis. 15749232 2005