Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376670
Disease: Pancreatitis, Alcoholic
Pancreatitis, Alcoholic
0.060 GeneticVariation disease BEFREE The frequency of PD was higher in patients with CFTR gene-associated pancreatitis as compared with those with idiopathic and alcoholic pancreatitis (P<0.0001) and with those with SPINK1 and PRSS1 gene-associated pancreatitis (P<0.02). 22158025 2012
CUI: C0376670
Disease: Pancreatitis, Alcoholic
Pancreatitis, Alcoholic
0.060 GeneticVariation disease BEFREE Scope remains for further studies examining proteins related to cellular anti-oxidant defenses, minor cystic fibrosis (CF) mutations and trans-heterozygosity involving a combination of mutations of different genes (such as CFTR alterations combined with SPINK1 or PRSS1 variants), as potential triggers of alcoholic pancreatitis. 18336667 2008
CUI: C0376670
Disease: Pancreatitis, Alcoholic
Pancreatitis, Alcoholic
0.060 GeneticVariation disease LHGDN We identified a novel SPINK1 mutation, c.206C>T (T69I), in a Thai patient with alcoholic pancreatitis. 18182741 2008
CUI: C0376670
Disease: Pancreatitis, Alcoholic
Pancreatitis, Alcoholic
0.060 GeneticVariation disease BEFREE Genetic studies have suggested that in hereditary pancreatitis mutation of the cationic trypsinogen gene and serine peptidase inhibitor, Kazal type 1 (SPINK1) genes mutations of the may have pathogenetic importance; however, studies on alcoholic pancreatitis have produced disappointing results so far. 18663346 2008
CUI: C0376670
Disease: Pancreatitis, Alcoholic
Pancreatitis, Alcoholic
0.060 GeneticVariation disease BEFREE This study shows that SPINK1 N34S and CFTR Q1352H mutations are uncommon and do not play an important role in chronic alcoholic pancreatitis in Korea. 16187186 2005
CUI: C0376670
Disease: Pancreatitis, Alcoholic
Pancreatitis, Alcoholic
0.060 GeneticVariation disease BEFREE Mutations in the SPINK1 gene (e.g.N34S) have been reported in patients with idiopathic, familial, tropical, and alcoholic pancreatitis. 12822871 2003