INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Disease: Familial generalized lipodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.040 GeneticVariation disease BEFREE We compared metabolite profiles in patients with congenital lipodystrophy or loss-of-function insulin resistance (INSR gene) mutations with healthy controls. 26273324 2015
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.040 Biomarker disease BEFREE Adiponectin was decreased in BSCL as compared with controls and patients with altered insulin receptor but was discrepant between the two BSCL subgroups. 20097706 2010
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.040 GeneticVariation disease BEFREE Overall, these results provide the first clear evidence against the involvement of the IR gene in the pathogenesis of any clinical form of LD. 7829633 1995
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.040 GeneticVariation disease BEFREE Altered expression and function of the insulin receptor in a family with lipoatrophic diabetes. 2903867 1988