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 HPO
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: C1709246
Disease: Non-Neoplastic Disorder
Non-Neoplastic Disorder 		0.010 Biomarker disease BEFREE Responses of neoplastic (PC-3 and CPA) and non-neoplastic (CAPE) prostatic cell lines to epidermal growth factor (EGF) and transforming growth factor-alpha (TGF-alpha) were determined using clonogenic and growth curve analysis. 9111599 1997
CUI: C0001430
Disease: Adenoma
Adenoma 		0.020 Biomarker group BEFREE Ang II type 1 receptor mRNA was high in cortisol producing (CPA; n = 5) and aldosterone producing (APA; n = 4) adenomas (normal adrenals 100 +/- 12% vs. 180 +/- 16% in CPA and 154 +/- 26% in APA, mean +/- SEM), but was low in nonfunctioning adenomas (NFA; n = 2; 2 +/- 1%). 11380493 2001
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 Biomarker disease BEFREE The data suggest that 4-CPA is a novel therapeutic agent that could be used in the prevention or treatment of estrogen-sensitive breast cancer. 17215075 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE The data suggest that 4-CPA is a novel therapeutic agent that could be used in the prevention or treatment of estrogen-sensitive breast cancer. 17215075 2007
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		0.010 Biomarker disease BEFREE Consistent with our earlier findings showing that 4-CPA inhibited the growth of ER positive breast cancer cells in vitro, we now demonstrate that this compound inhibits tumor formation in MMTV-aromatase mice. 17215075 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 Biomarker disease BEFREE Loss of ITIH2 expression in 70% of cases (n = 50, CPA) could be confirmed by real-time PCR in an additional set of breast cancers (n = 36). 18226209 2008
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction 		0.010 Biomarker phenotype BEFREE The presence of an A/CPA should be considered if a patient has both PA and hypercortisolism. 20186151 2010
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome 		0.010 Biomarker disease BEFREE The presence of an A/CPA should be considered if a patient has both PA and hypercortisolism. 20186151 2010
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome 		0.010 Biomarker disease BEFREE The presence of an A/CPA should be considered if a patient has both PA and hypercortisolism. 20186151 2010
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: C3805092
Disease: Methylenetetrahydrofolate reductase gene mutation
Methylenetetrahydrofolate reductase gene mutation 		0.010 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: C4284413
Disease: Severe Fever with Thrombocytopenia Syndrome
Severe Fever with Thrombocytopenia Syndrome 		0.010 Biomarker disease BEFREE The RT-CPA-VF assay targets a conserved region of the M segment of the SFTSV genome and has a limit of detection of 100 copies per reaction, with no cross-reaction with other vector-borne bunyaviruses and bacterial pathogens. 22993179 2012
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: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.510 SusceptibilityMutation disease ORPHANET Variants in CPA1 are strongly associated with early onset chronic pancreatitis. 23955596 2013