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: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms
0.040 Biomarker group BEFREE Previous studies focused on the regulatory function of ACTHR in glucocorticoid secretion, but research on adrenal tumours is rare. 28879651 2017
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms
0.040 Biomarker group BEFREE The role of the ACTH receptor in adrenal tumors: identification of a novel microsatellite marker. 15241732 2004
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms
0.040 AlteredExpression group BEFREE We previously reported that ACTH receptor (ACTH-R) mRNA is expressed in cortisol-secreting adrenal tumors, with significant differences between adenomas and carcinomas. 9888585 1999
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms
0.040 Biomarker group BEFREE However, the ACTH receptor may play a role as a differentiation factor, as loss of heterozygosity for the ACTH receptor in adrenal tumors seems to be associated with an undifferentiated phenotype. 9167964 1997