SH2B1, SH2B adaptor protein 1, 25970

N. diseases: 140; N. variants: 19
Disease: Hyperinsulinism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.110 GeneticVariation disease BEFREE Animal studies have suggested that SH2B1 is a physiological enhancer of the insulin receptor and humans with rare deletions or mutations at SH2B1 are obese with a disproportionately high insulin resistance. 24103803 2013
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.110 Biomarker disease HPO