POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: Adrenal hyperplasia, congenital, type 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268285
Disease: Adrenal hyperplasia, congenital, type 5
Adrenal hyperplasia, congenital, type 5 		0.010 GeneticVariation disease BEFREE The plasma concentrations of mineralocorticoid hormones, basal and after stimulation and suppression with ACTH, can identify the heterozygotes in a family with two siblings with 17 alpha-hydroxylase deficiency. 6300162 1983