INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Disease: Dysglycemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1960636
Disease: Dysglycemia
Dysglycemia 		0.020 GeneticVariation disease BEFREE Rabson-Mendenhall syndrome (RMS) is caused by mutations of the insulin receptor and results in extreme insulin resistance and dysglycemia. 23969187 2013
CUI: C1960636
Disease: Dysglycemia
Dysglycemia 		0.020 Biomarker disease BEFREE Sequencing demonstrated INSR haploinsufficiency accounting for elevated insulin levels and dysglycemia. 19720790 2009