INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.150 AlteredExpression phenotype BEFREE Compared to NBW, the liver in IUGR neonates was characterized by a significantly enhanced ratio of Kupffer cells to hepatocytes and insulin receptor abundance as well as higher percentages of cells expressing receptors for adipokines (resistin and adiponectin), increased expression of TNF-α (as marker of inflammation), and increased expression of insulin receptor and uncoupling protein 3 (UCP3). 29920475 2018
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.150 GeneticVariation phenotype BEFREE The mutation of the insulin receptor gene might underlie the intrauterine growth retardation of the newborns. 25472847 2015
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.150 Biomarker phenotype BEFREE Organ-specific defects in insulin-like growth factor and insulin receptor signaling in late gestational asymmetric intrauterine growth restriction in Cited1 mutant mice. 21486933 2011
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.150 GeneticVariation phenotype BEFREE We report a homozygous missense mutation at position 1092 (substitution of glutamine for arginine) in the tyrosine kinase domain of the insulin receptor in a patient with leprechaunism associated with severe insulin resistance and intrauterine growth retardation. 9112018 1997
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.150 Biomarker phenotype BEFREE However, fibroblasts cultured from a patient with intrauterine growth restriction and severe insulin resistance (leprechaun Atl-1) had normal amounts of insulin receptor protein and defective insulin binding but constitutive activation of insulin-receptor autophosphorylation and kinase activity and of glucose transport. 8419945 1993
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.150 Biomarker phenotype HPO