Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE Donohue syndrome ([DS]; leprechaunism) describes a genetic autosomal recessive disorder that results from the presence of homozygous or compound heterozygous mutations in the insulin receptor gene (INSR; 19p13.3-p13.2).Donohue syndrome is associated with a fatal congenital form of dwarfism with features of intrauterine and postnatal growth retardation, exaggerated hyperglycemia with hyperinsulinism and dysmorphic abnormalities.We present a case of DS owing to the rarity of this syndrome (1 case in every million births). 26871809 2016
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 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 2014
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE INSR mutations can be also found in pubertal females with hyperinsulinism, hyperandrogenism, and acanthosis nigricans (type A SIR). 23824322 2014
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 AlteredExpression disease BEFREE Increased expression of IR-A during neoplastic transformation of hepatocytes could mediate some of the adverse effects of hyperinsulinemia on HCC. 23633480 2013
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 AlteredExpression disease BEFREE Using RT-PCR, we found that visfatin did not regulate IR expression and that an increased insulin release was also unlikely to be involved because insulin was unable to increase PGE(2) release. 22399297 2012
Entrez Id: 3952
Gene Symbol: LEP
LEP
0.700 GeneticVariation disease BEFREE Logistic regression analyses showed that factors associated with breast cancer were BMI [OR (95% CI) =2.8 (1.4-5.5), P=0.004]; high levels of adiponectin [5.1 (2.2-11.5), P<0.001); hyperinsulinaemia [1.1 (1.0-1.1), P=0.01], leptin [3.1 (1.7-5.7), P<0.0001], estradiol [2.5 (1.3-4.7), P=0.005] and testosterone [1.3 (1.03-1.7), P=0.03]. 22664497 2012
Entrez Id: 3952
Gene Symbol: LEP
LEP
0.700 Biomarker disease RGD Creation and preliminary characterization of a leptin knockout rat. 22948215 2012
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease BEFREE Hyperinsulinemia stimulates the liver to produce more insulin-like growth factor (IGF), another mitogen and an anti-apoptotic agent which binds insulin receptor/IGF receptor and stimulates prostate growth. 21536370 2012
Entrez Id: 3952
Gene Symbol: LEP
LEP
0.700 Biomarker disease BEFREE Analyses of metabolic parameters in maternal venous and umbilical venous plasma revealed significantly increased insulin and leptin as well as slightly increased glucose and TNF-α values in the obese and obese-GDM groups. 21852675 2011
Entrez Id: 3952
Gene Symbol: LEP
LEP
0.700 AlteredExpression disease BEFREE Further, similar hypothalamic leptin transgene expression abrogated chronic hyperglycemia and hyperinsulinemia, the predisposing risk factors of the age and environmentally acquired diabetes type 2, and instituted euglycemia by independently activating relays that stimulate glucose metabolism and repress hyperinsulinemia and improve insulin sensitivity in the periphery. 21209624 2011
Entrez Id: 3952
Gene Symbol: LEP
LEP
0.700 Biomarker disease BEFREE These results identify a novel molecular pathway by which leptin confers inhibitory action on insulin secretion, and impaired PP-1 inhibition by leptin may be involved in dysfunction of the adipoinsular axis during the development of hyperinsulinemia and type 2 diabetes mellitus. 21427225 2011
Entrez Id: 3952
Gene Symbol: LEP
LEP
0.700 AlteredExpression disease BEFREE In first-degree relatives normal glucose tolerant women, fasting hyperinsulinemia, independently of the presence of metabolic syndrome, is associated with elevated IL-6 and leptin levels, suggesting an increased cardiovascular risk. 19685554 2010
Entrez Id: 3952
Gene Symbol: LEP
LEP
0.700 Biomarker disease BEFREE Further, we document here the efficacy of leptin replenishment in vivo, especially by supplying it to the hypothalamus with the aid of gene therapy, in preventing the antecedent pathophysiological sequalae--hyperinsulinemia, insulin resistance and hyperglycemia--in various animal models and clinical paradigms of diabetes type 1 and 2 with or without attendant obesity. 19647774 2010
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease CTD_human Homozygous or compound heterozygous mutations within the insulin binding domain of the human insulin receptor (INSR) are usually associated with severe impairment of insulin binding leading to Donohue syndrome ("Leprechaunism"), which is characterized by excessive hyperglycemia with hyperinsulinism, pre- and postnatal growth retardation, distinct dysmorphism and early death. 18411068 2008
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 AlteredExpression disease LHGDN reduced adipose tissue lipoprotein lipase expression, being significantly correlated with the decrease in insulin and prolactin, suggests a role of hyperinsulinemia and hyperprolactinemia in inducing and sustaining obesity. 18535540 2008
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease CTD_human We report on a 13-year-old girl with Donohue syndrome like dysmorphism, hyperinsulinism and prolonged survival due to two novel INSR missense mutations within the insulin binding domain. 18411068 2008
Entrez Id: 3952
Gene Symbol: LEP
LEP
0.700 AlteredExpression disease BEFREE Notably, the greatest leptin mRNA and protein expression were observed under combined hyperinsulinemia and hypoxia or hypoxia-mimetic treatments. 17653093 2008
Entrez Id: 3952
Gene Symbol: LEP
LEP
0.700 Biomarker disease BEFREE In summary, our data suggest that hyperinsulinemia could induce breast cancer progression through leptin-dependent mechanisms. 18559540 2008
Entrez Id: 3952
Gene Symbol: LEP
LEP
0.700 AlteredExpression disease LHGDN We found insulin resistance, hyperinsulinism and hyperleptinemia in infants of diabetec mothers; trend of higher leptin levels in diabetic vs non-diabetic mothers suggests leptin could be related to insulin resistance in these infants 18404969 2008
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE We report on a 13-year-old girl with Donohue syndrome like dysmorphism, hyperinsulinism and prolonged survival due to two novel INSR missense mutations within the insulin binding domain. 18411068 2008
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE Allelic variants of genes encoding components of the insulin pathway, including insulin (INS), insulin receptor (INSR), and insulin receptor substrate-1 and insulin receptor substrate-2 (IRS1 and IRS2) have been associated with hyperinsulinemia and insulin resistance and may, therefore, predict susceptibility to colorectal neoplasia. 17416760 2007
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease BEFREE Rabson-Mendenhall syndrome is a rare genetic disorder characterized by severe insulin resistance and hyperinsulinemia due to defects in signaling through the insulin receptor. 17560154 2007
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease BEFREE In addition, IGF1R down-regulation increased insulin binding consistent with the formation of an increased number of holo-IR on the cell surface. 17210722 2007
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease BEFREE Recombinant human IGF-I alone or combined with its binding protein (IGFBP-3) provides an alternative therapy as IGF-I receptor shares structural and functional homology with the insulin receptor and recombinant human insulin-like growth factor I (rhIGF-I) therapy could improve glucose disposal by signalling through the IGF-I receptor, whilst reducing the adverse effects of high insulin concentrations. 17785698 2007
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 AlteredExpression disease BEFREE Decreased IGF-IR content was accompanied by a reduction of IGF-IR/IR receptor hybrids, and therefore, increased levels of IR/IR homodimers probably explain increased insulin-stimulated receptor autophosphorylation and Akt phosphorylation. 16569742 2006