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: C0030305
Disease: Pancreatitis
Pancreatitis
0.020 GeneticVariation disease BEFREE The mechanism by which CPA1 variants confer increased pancreatitis risk may involve misfolding-induced endoplasmic reticulum stress rather than elevated trypsin activity, as is seen with other genetic risk factors for this disease. 23955596 2013
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
0.010 GeneticVariation group BEFREE Although this pathology usually is associated with genetic syndromes and other cardiac abnormalities, patients with CPA generally are asymptomatic. 23660850 2013
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis
0.510 SusceptibilityMutation disease ORPHANET Genetics of pancreatitis: the 2014 update. 24522117 2014
CUI: C0001430
Disease: Adenoma
Adenoma
0.020 GeneticVariation group BEFREE In addition, MT-3 immunohistochemistry was performed in non-pathological adrenal glands (NA: 19), idiopathic hyperaldosteronism (IHA: 10), APA (20), CPA (24), adjacent non-neoplastic adrenal glands of adenoma (AAG: 20), and adrenocortical carcinoma (ACC: 8). 24242700 2014
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.020 Biomarker disease BEFREE In 2013, carboxypeptidase A1 (CPA1) was identified as a novel pancreatitis susceptibility gene. 24522117 2014
CUI: C0009777
Disease: Conn Adenoma
Conn Adenoma
0.010 Biomarker disease BEFREE The mRNA levels of MT-3 were first evaluated by quantitative RT-PCR (qPCR) in adrenocortical aldosterone-producing adenoma (APA: 11) and cortisol-producing adenoma (CPA: 14). 24242700 2014
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.010 GeneticVariation disease BEFREE In addition, MT-3 immunohistochemistry was performed in non-pathological adrenal glands (NA: 19), idiopathic hyperaldosteronism (IHA: 10), APA (20), CPA (24), adjacent non-neoplastic adrenal glands of adenoma (AAG: 20), and adrenocortical carcinoma (ACC: 8). 24242700 2014
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS
0.010 Biomarker disease BEFREE Several studies have shown that, rather than mutations in trypsinogens, variants in serine protease inhibitor kazal type 1, cathepsin B, chymotrypsin C, cystic fibrosis transmembrane regulator, and carboxypeptidase A1, predict risk of TCP. 25516642 2014
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 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: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis
0.510 Biomarker disease GENOMICS_ENGLAND Genetic risk in chronic pancreatitis: the misfolding-dependent pathway. 28650851 2017
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: C0011175
Disease: Dehydration
Dehydration
0.020 Biomarker phenotype BEFREE The addition of protective compounds was also tested to improve survival of CPA-1 during the dehydration process. 28942462 2017
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary
0.020 Biomarker disease BEFREE A subset of 20 biopsy specimens was analyzed using digital imaging analysis (DIA) for the measurement of CPA (DIA-CPA). 28340131 2017
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary
0.020 Biomarker disease BEFREE Hypothermia induced by CPA was much greater than that caused by CGS21680 or IB-MECA indicating that A1AR activation is the major receptor-dependent pathway for adenosine-induced hypothermia under our experimental conditions. 27975140 2017
CUI: C0025286
Disease: Meningioma
Meningioma
0.010 GeneticVariation disease BEFREE Meningioma involving internal auditory canal was only seen in one of the six patients with CPA meningioma.One tumor was totally ossified. 28247112 2017
CUI: C0026946
Disease: Mycoses
Mycoses
0.010 Biomarker group BEFREE The conspicuous presence of CPA and its numerous derivatives in <i>A. flavus</i> cultures raises concerns about the long-term and cumulative toxicological effects of these fungal secondary metabolites and their contributions to the entire <i>A. flavus</i> mycotoxin problem. 28098779 2017
CUI: C0234251
Disease: Inflammatory pain
Inflammatory pain
0.010 Biomarker phenotype BEFREE In addition, mechanical hyperalgesia was significantly reduced in the N6-cyclopentyladenosine (CPA) i.p. or i.m. and endomorphin (EM) i.p. groups.Neither EM i.m. nor EM i.p. exhibited any analgesic effect on thermal hyperalgesia.However, both CPA i.m. and CPA i.p. attenuated thermal hyperalgesia in the mouse inflammatory pain model. 29142219 2017
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma
0.010 GeneticVariation disease BEFREE Meningioma involving internal auditory canal was only seen in one of the six patients with CPA meningioma.One tumor was totally ossified. 28247112 2017
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
Idiopathic chronic pancreatitis
0.010 GeneticVariation disease BEFREE Herein we performed targeted next-generation sequencing of the CPA1 gene in 1,112 Han Chinese idiopathic chronic pancreatitis (ICP) patients-the largest ICP cohort so far analyzed in a single population-and 1,580 controls. 28497564 2017
CUI: C1301797
Disease: Induced hypothermia (finding)
Induced hypothermia (finding)
0.010 Biomarker phenotype BEFREE Hypothermia induced by CPA was much greater than that caused by CGS21680 or IB-MECA indicating that A1AR activation is the major receptor-dependent pathway for adenosine-induced hypothermia under our experimental conditions. 27975140 2017
Meningioma, benign, no ICD-O subtype
0.010 GeneticVariation disease BEFREE Meningioma involving internal auditory canal was only seen in one of the six patients with CPA meningioma.One tumor was totally ossified. 28247112 2017
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia
0.010 Biomarker phenotype BEFREE In addition, mechanical hyperalgesia was significantly reduced in the N6-cyclopentyladenosine (CPA) i.p. or i.m. and endomorphin (EM) i.p. groups.Neither EM i.m. nor EM i.p. exhibited any analgesic effect on thermal hyperalgesia.However, both CPA i.m. and CPA i.p. attenuated thermal hyperalgesia in the mouse inflammatory pain model. 29142219 2017
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis
0.010 Biomarker disease BEFREE Sixty-five consecutive biopsy specimens from patients with mixed liver disease etiologies were assessed by three pathologists using the Ishak and nonalcoholic steatohepatitis Clinical Research Network (NASH CRN) scoring systems, and the fibrosis area (collagen proportionate area [CPA]) was estimated by visual inspection (visual-CPA). 28340131 2017