MC2R, melanocortin 2 receptor, 4158

N. diseases: 109; N. variants: 24
Disease: X-linked Adrenal Hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.310 GeneticVariation disease BEFREE No mutation was found in the NR0B1 and MC2R genes excluding congenital adrenal hypoplasia and FGD type 1. 21274326 2010
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.310 Biomarker disease GENOMICS_ENGLAND