CPA1, carboxypeptidase A1, 1357

N. diseases: 61; N. variants: 2
Disease: Hereditary pancreatitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.510 Biomarker disease BEFREE Recently, loss-of-function mutations in <i>CPA1</i>, which encodes the digestive enzyme carboxypeptidase A1, were described in sporadic early onset cases and in hereditary pancreatitis. 30045879 2019
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.510 Biomarker disease GENOMICS_ENGLAND Genetic risk in chronic pancreatitis: the misfolding-dependent pathway. 28650851 2017
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.510 SusceptibilityMutation disease ORPHANET Genetics of pancreatitis: the 2014 update. 24522117 2014
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.510 SusceptibilityMutation disease ORPHANET Variants in CPA1 are strongly associated with early onset chronic pancreatitis. 23955596 2013