CPA1, carboxypeptidase A1, 1357

N. diseases: 61; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic
0.630 Biomarker disease GENOMICS_ENGLAND Genetic risk in chronic pancreatitis: the misfolding-dependent pathway. 28650851 2017
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic
0.630 Biomarker disease BEFREE The best characterized misfolding variants in the highly expressed digestive proteases cationic trypsinogen (PRSS1) and carboxypeptidase A1 (CPA1) are strong, causative risk factors for chronic pancreatitis and may be associated with autosomal dominant hereditary pancreatitis. 28650851 2017
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic
0.630 GeneticVariation disease BEFREE Genetic alterations in the carboxypeptidase A1 gene (CPA1) are associated with early onset chronic pancreatitis (CP). 26316592 2015
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic
0.630 Biomarker disease BEFREE We analyzed CPA1, encoding carboxypeptidase A1, in subjects with nonalcoholic chronic pancreatitis (cases) and controls in a German discovery set and three replication sets. 23955596 2013
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic
0.630 Biomarker disease CTD_human Variants in CPA1 are strongly associated with early onset chronic pancreatitis. 23955596 2013
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic
0.630 Biomarker disease HPO