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: rs1265342534
rs1265342534
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0175701
Disease:
Aarskog syndrome 		0.010 GeneticVariation BEFREE For the S120R, V142L, and A233P mutated MC2-R, cAMP production curves were similar to that obtained with M3 parental cells, confirming that these mutations are responsible for the FGD in the affected patients. 12110946 2002