CHST3, carbohydrate sulfotransferase 3, 9469

N. diseases: 214; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche
0.020 GeneticVariation disease BEFREE There is no previous report of the combination of SW and premature pubarche due to mutations in the type II 3beta-HSD gene. 15671104 2005
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche
0.020 Biomarker disease BEFREE We investigated the type II and type I 3 beta HSD gene sequences in 15 infants and children with premature pubarche (PP; mean/range of age at PP, 4/0.08-9 yr) and elevated ACTH-stimulated delta 5 precursor steroid levels. 8923844 1996