CPE, carboxypeptidase E, 1363

N. diseases: 101; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.050 AlteredExpression disease BEFREE We show that although CPE is not directly OGlcNAc modified in islets, overexpression of the suspected OGT target eIF4G1, previously shown to regulate CPE translation in β-cells, increases islet CPE levels, and fully reverses βOGTKO islet-induced hyperproinsulinemia. 31300553 2019
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.050 GeneticVariation disease BEFREE Defects in insulin processing enzymes including prohormone convertases 1/3 and 2, and carboxypeptidase E (CPE) can lead to β-cell stress and hyperproinsulinemia, both of which are features of type 2 diabetes. 21628999 2011
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.050 GeneticVariation disease BEFREE To test the hypothesis that the identification of mutation in the carboxypeptidase E (CPE) gene which leads to marked hyperproinsulinaemia is consistent with a possible role for mutations in CPE in the development of coronary atherosclerosis. 18080843 2009
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.050 GeneticVariation disease BEFREE To test the hypothesis that the identification of mutation in the carboxypeptidase E (CPE) gene which leads to marked hyperproinsulinaemia is consistent with a possible role for mutations in CPE in the development of coronary heart disease. 17957445 2008
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia
0.050 GeneticVariation disease BEFREE The identification of a mutation in the CPE gene of the fat/fat mouse which leads to marked hyperproinsulinaemia and late-onset obesity and diabetes is consistent with a possible role for mutations in CPE in the development of diabetes and obesity in humans. 9662053 1998