IRS1, insulin receptor substrate 1, 3667

N. diseases: 233; N. variants: 15
Disease: 21-hydroxylase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		0.010 GeneticVariation disease BEFREE The study involved a monogenic analysis of CYP21A2 in patients (375 nonclassical 21OHD [NC21OHD] children; 306 hyperandrogenic 21OHD carriers, n = 306) and a polygenic association study (CAPN10-UCSNP44, PON1-108, TNFR2-M196R, IGF2-ApaI and IRS1-G972R polymorphisms) of 170 hyperandrogenic carriers plus 277 family members (control groups). 19039234 2009