MC2R, melanocortin 2 receptor, 4158

N. diseases: 109; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.090 AlteredExpression phenotype BEFREE The aim of this study was to evaluate ACTHR expression in common adrenal adenomas and investigate its influence on adrenal tumorigenesis using adrenocortical H295R cells. 28879651 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.090 Biomarker phenotype BEFREE Of these, three genes (CYP11B2, MC2R, and HPX) may be related to aldosterone production, and five genes (PRRX1, RAB38, FAP, GCNT2, and ASB4) are potentially involved in tumorigenesis. 25953827 2015
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.090 GeneticVariation phenotype BEFREE It has been already excluded that activating mutations of the ACTH receptor or of G protein stimulator alpha sub-units, affecting cAMP pathway, is involved in the tumorigenesis. 11774288 2002
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.090 Biomarker phenotype BEFREE Despite an extensive search, no activating ACTH-receptor mutations have been found in adrenal tumors,excluding the ACTH receptor as a relevant oncogene in adrenal tumorigenesis. 11248736 2001
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.090 AlteredExpression phenotype BEFREE The human ACTH-R gene was recently cloned, allowing systematic determination of its sequence, expression and function in adrenal tumorigenesis. 11004727 2000
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.090 AlteredExpression phenotype BEFREE The ACTH receptor (ACTH-R) has recently been cloned, allowing systematic evaluation of its expression and function in adrenal tumorigenesis. 9231058 1997
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.090 Biomarker phenotype BEFREE Despite an extensive search, no activating ACTH receptor mutations have been found in adrenal tumors, excluding the ACTH receptor as a relevant oncogene for adrenal tumorigenesis. 9167964 1997
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.090 GeneticVariation phenotype BEFREE We conclude that LOH of the ACTH-R gene is possibly involved in adrenal tumorigenesis, contributing to cellular dedifferentiation in adenomas and carcinomas. 9284742 1997
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.090 GeneticVariation phenotype BEFREE We conclude that activating mutations of the ACTH-R gene do not represent a frequent mechanism of human adrenocortical tumorigenesis. 7883845 1995