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: C0007097
Disease: Carcinoma
Carcinoma
0.060 AlteredExpression group BEFREE ACTH receptor mRNA followed a similar pattern (CPA 178 +/- 17, APA 196 +/- 30, NFA 0%, carcinomas 56 +/- 11%) with a good correlation between Ang II type 1 receptor and ACTH-R mRNA of r = 0.692, P = 0.0019. 11380493 2001
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.060 GeneticVariation group BEFREE Direct sequencing of the entire coding region of the ACTH-R gene of sporadic adrenocortical adenomas and carcinomas did not reveal constitutive activating mutations, indicating that this mechanism is not frequent in human adrenocortical tumorigenesis. 11004727 2000
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.060 AlteredExpression group BEFREE Despite signs of individual heterogeneity, the level of ACTH-R transcripts was reduced in carcinomas. 9888585 1999
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.060 AlteredExpression group BEFREE Northern analysis using dot blot was employed to quantify ACTH-R and GR mRNA expression and confirmed the ISH data: ACTH-R mRNA expression was high in CPAs (275 and 195% vs 100 +/- 25% in adult adrenals), APAs (127, 200 and 221%) and two carcinomas (99 and 132%), but low in the NFA (7%) and in an androgen secreting carcinoma (16%). 9582497 1998
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.060 AlteredExpression group BEFREE Surprisingly, the highest ACTH receptor mRNA expression was found in aldosteronomas, while it is low in non-functioning adenomas and carcinomas. 9167964 1997
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.060 GeneticVariation group 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