Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Precocious Puberty
CUI: C0034013
Disease: Precocious Puberty
0.010 GeneticVariation BEFREE He presented with precocious puberty at 10 months of age and was diagnosed with testotoxicosis due to a de novo heterozygous Asp578Tyr mutation in LHCGR. 29029242 2017