POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: Deficiency of steroid 21-monooxygenase ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768768839
rs768768839
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0268287
Disease:
Deficiency of steroid 21-monooxygenase 		0.010 GeneticVariation BEFREE The diagnosis of non-classical (NC) 21-hydroxylase deficiency (21-OH-D) was substantiated by the finding of increased baseline and adrenocorticotropic hormone (ACTH)-stimulated 17-hydroxy-progesterone levels and was supported by molecular analyses of the CYP21A2 gene, which revealed V281L homozygosis in patient 1 and V281L/P30L compound heterozygosis in patient 2. 17992539 2008