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
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
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 GeneticVariation disease GWASCAT Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.100 Biomarker group HPO
CUI: C0022346
Disease: Icterus
Icterus 		0.100 Biomarker phenotype HPO
CUI: C0023518
Disease: Leukocytosis
Leukocytosis 		0.100 Biomarker phenotype HPO
CUI: C1842406
Disease: Pancreatic calcification
Pancreatic calcification 		0.100 Biomarker phenotype HPO
CUI: C4022560
Disease: Splanchnic vein thrombosis
Splanchnic vein thrombosis 		0.100 Biomarker disease HPO
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity 		0.100 Biomarker phenotype HPO
CUI: C4023452
Disease: Elevated C-reactive protein level
Elevated C-reactive protein level 		0.100 Biomarker phenotype HPO
CUI: C4551632
Disease: Recurrent pancreatitis
Recurrent pancreatitis 		0.100 Biomarker disease HPO
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.030 Biomarker disease BEFREE Compared with CPA/EE, Tung's acupuncture showed no better improvement on LH/FSH ratio for PCOS although it could reduce the ratio. 31126554 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.030 GeneticVariation disease BEFREE When manually reviewing patient records for a sample of CPA/EE new users (n=200), the acne was recorded in 77% of women, hirsutism in 9.5% and polycystic ovary syndrome in 9.5%. 27769766 2017
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.030 Biomarker disease BEFREE The thrombosis was possibly provoked by a combination of heterozygous MTHFR gene mutation and the use of a combined oral contraceptive (COC) containing cyproterone acetate/ethinylestradiol (CPA/EE) for polycystic ovary syndrome (PCOS). 21415709 2011
CUI: C0011175
Disease: Dehydration
Dehydration 		0.020 Biomarker phenotype BEFREE Simulations and cooling rate measurements confirmed an adequate concentration of the intracellular CPA concentration (up to 8.53 M) after dehydration in combination with high cooling rates (960-1320 °C/min) for successful vitrification. 30514081 2019