Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Central Precocious Puberty
CUI: C0342543
Disease: Central Precocious Puberty
0.010 GeneticVariation BEFREE One of the patients with V281L heterozygous mutation developed true precocious puberty and the other one had rapid progressive early puberty and developed polycystic ovary syndrome. 22308849 2011