Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.100 CausalMutation phenotype CLINVAR Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype. 28556356 2017
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.100 CausalMutation phenotype CLINVAR Pancreatic Cancer Cell Lines Heterozygous for the SPINK1 p.N34S Haplotype Exhibit Diminished Expression of the Variant Allele. 28609377 2017
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.100 CausalMutation phenotype CLINVAR PRSS1 and SPINK1 mutations in idiopathic chronic and recurrent acute pancreatitis. 25206283 2014
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.100 CausalMutation phenotype CLINVAR Genetics of pancreatitis: the 2014 update. 24522117 2014
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.100 CausalMutation phenotype 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
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.100 CausalMutation phenotype CLINVAR CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated? 22427236 2013
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.100 CausalMutation phenotype CLINVAR Genetics and pathogenesis of chronic pancreatitis: the 2012 update. 22749696 2012
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.100 CausalMutation phenotype CLINVAR Chronic pancreatitis: genetics and pathogenesis. 19453252 2009
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.100 CausalMutation phenotype CLINVAR Role of genetic disorders in acute recurrent pancreatitis. 18286680 2008
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.100 CausalMutation phenotype CLINVAR Hereditary chronic pancreatitis. 17204147 2007
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.100 CausalMutation phenotype CLINVAR Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation. 17525091 2007
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.100 CausalMutation phenotype CLINVAR Estimation of the prevalence and incidence of chronic pancreatitis and its complications. 16885867 2006
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.100 CausalMutation phenotype CLINVAR Mutational analysis of the pancreatic secretory trypsin inhibitor gene in familial and juvenile pancreatitis in Japan. 12743777 2003
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.100 CausalMutation phenotype CLINVAR SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent. 12187509 2002
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.100 CausalMutation phenotype 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
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.100 CausalMutation phenotype CLINVAR Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. 10835640 2000
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.100 CausalMutation phenotype CLINVAR Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis. 10691414 2000