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: rs768299768
rs768299768
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0175701
Disease:
Aarskog syndrome 		0.010 GeneticVariation BEFREE The molecular analysis of FGD patients revealed a novel p.Gly116Val mutation in the MC2R gene in one patient and p.Met1Ile mutation in the MRAP gene in another patient. 18426811 2008