Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Pancreatic Cancer Cell Lines Heterozygous for the SPINK1 p.N34S Haplotype Exhibit Diminished Expression of the Variant Allele. 28609377 2017
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype. 28556356 2017
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Genetics of pancreatitis: the 2014 update. 24522117 2014
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR PRSS1 and SPINK1 mutations in idiopathic chronic and recurrent acute pancreatitis. 25206283 2014
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated? 22427236 2013
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
0.700 CausalMutation 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
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Genetics and pathogenesis of chronic pancreatitis: the 2012 update. 22749696 2012
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Chronic pancreatitis: genetics and pathogenesis. 19453252 2009
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Role of genetic disorders in acute recurrent pancreatitis. 18286680 2008
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Hereditary chronic pancreatitis. 17204147 2007
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation. 17525091 2007
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Estimation of the prevalence and incidence of chronic pancreatitis and its complications. 16885867 2006
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Mutational analysis of the pancreatic secretory trypsin inhibitor gene in familial and juvenile pancreatitis in Japan. 12743777 2003
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent. 12187509 2002
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis. 12011155 2002
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis. 10691414 2000
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. 10835640 2000