Disease: Testotoxicosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Testotoxicosis
CUI: C1504412
Disease: Testotoxicosis
0.020 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
Testotoxicosis
CUI: C1504412
Disease: Testotoxicosis
0.020 GeneticVariation BEFREE Functional studies were conducted to compare the D578H-LHR mutant with the wild-type (WT)-LHR and the D578G-LHR mutant, a classic cause of testotoxicosis. 21490077 2011