POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: Aarskog syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775159616
rs775159616
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0175701
Disease:
Aarskog syndrome 		0.010 GeneticVariation BEFREE The D103N-mutated MC2-R had an impaired cAMP response to physiological doses of ACTH, but the maximal response at very high concentrations of ACTH was similar to that obtained for the wild-type MC2-R. All these results demonstrated clear relationships based on functional studies between MC2-R homozygous mutations and FGD phenotype. 12110946 2002