CPE, carboxypeptidase E, 1363

N. diseases: 101; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28573326
rs28573326
Entrez Id: 1363
Gene Symbol: CPE
CPE
CUI: C0877015
Disease:
Pelvic Organ Prolapse
G 0.710 GeneticVariation GWASCAT In race-specific analysis of grade 0 vs 2-3, intronic SNPs in the CPE gene (rs28573326, OR:2.14; 95% CI 1.62-2.83; p = 1.0x10-7) were associated with POP in AAs, and SNPs in the gene AL132709.5 (rs1950626, OR:2.96; 95% CI 1.96-4.48, p = 2.6x10-7) were associated with POP in HPs. 26545240 2015
dbSNP: rs28573326
rs28573326
Entrez Id: 1363
Gene Symbol: CPE
CPE
CUI: C0877015
Disease:
Pelvic Organ Prolapse
0.710 GeneticVariation BEFREE In race-specific analysis of grade 0 vs 2-3, intronic SNPs in the CPE gene (rs28573326, OR:2.14; 95% CI 1.62-2.83; p = 1.0x10-7) were associated with POP in AAs, and SNPs in the gene AL132709.5 (rs1950626, OR:2.96; 95% CI 1.96-4.48, p = 2.6x10-7) were associated with POP in HPs. 26545240 2015
dbSNP: rs28503877
rs28503877
Entrez Id: 1363
Gene Symbol: CPE
CPE
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs67650739
rs67650739
Entrez Id: 1363
Gene Symbol: CPE
CPE
CUI: C0042834
Disease:
Vital capacity
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs541147146
rs541147146
Entrez Id: 1363
Gene Symbol: CPE
CPE
CUI: C0009402
Disease:
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT
dbSNP: rs1583645
rs1583645
Entrez Id: 1363
Gene Symbol: CPE
CPE
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE Amongst the tag SNPs, rs1583645 in carboxypeptidase E (CPE) and rs6583813 in insulin degrading enzyme (IDE) were associated with 1.09 to 1.28 fold increased risk of T2D (P Meta = 9.4×10(-3) and 0.02 respectively) in a meta-analysis of East Asians. 23776430 2013
dbSNP: rs142408232
rs142408232
Entrez Id: 1363
Gene Symbol: CPE
CPE
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE To explore the association between 801C>T and 847C>T polymorphisms of the human carboxypeptidase E (CPE) gene exon5, which could cause hyperproinsulinemia, and the angiographical characteristics of coronary atherosclerosis. 18501121 2008
dbSNP: rs4690821
rs4690821
Entrez Id: 1363
Gene Symbol: CPE
CPE
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE These findings indicate that the 801C>T polymorphism in the CPE exon5 gene may contribute to the angiographical characteristics of coronary atherosclerosis in the Chinese population. 18501121 2008