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: C0002793
Disease: Anaplasia
Anaplasia
0.020 GeneticVariation disease BEFREE Deletion of the ACTH-R gene seems to be involved in a subset of human adrenocortical tumors, contributing to cellular dedifferentiation. 11004727 2000
CUI: C0002793
Disease: Anaplasia
Anaplasia
0.020 GeneticVariation disease 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