Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Autosomal Dominant Hereditary Pancreatitis
0.320 GeneticVariation disease BEFREE Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis. 17274009 2007
Autosomal Dominant Hereditary Pancreatitis
0.320 AlteredExpression disease BEFREE Attacks of acute pancreatitis in HP subjects appear to be independent of the relative expression of the mutant PRSS1 H122 allele or SPINK1 gene expression. 16354799 2006
Autosomal Dominant Hereditary Pancreatitis
0.320 Biomarker disease CTD_human