IRS1, insulin receptor substrate 1, 3667

N. diseases: 24; N. variants: 5
Disease: Hyperinsulinism ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.400 Biomarker disease CTD_human Unlike previously reported T2D risk loci, which predominantly associate with impaired beta cell function, the C allele of rs2943641 was associated with insulin resistance and hyperinsulinemia in 14,358 French, Danish and Finnish participants from population-based cohorts; this allele was also associated with reduced basal levels of IRS1 protein and decreased insulin induction of IRS1-associated phosphatidylinositol-3-OH kinase activity in human skeletal muscle biopsies. 19734900 2009