Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease HPO
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 CausalMutation disease CLINVAR
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease UNIPROT NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene. 1607076 1992
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene. 1607076 1992
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE Type 2 diabetes mellitus (T2DM), by definition is a heterogeneous, multifactorial, polygenic syndrome which results from insulin receptor dysfunction. 25460725 2014
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE Insulin receptor substrate polymorphisms and type 2 diabetes mellitus. 11256583 2000
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE Insulin receptor variant forms and type 2 diabetes mellitus. 11258596 2000
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE Insulin receptor gene polymorphisms in type 2 (non-insulin-dependent) diabetes mellitus. 2065860 1991
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 AlteredExpression disease BEFREE Insulin receptor isotype expression correlates with risk of non-insulin-dependent diabetes. 7681983 1993
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease BEFREE Insulin receptor (IR) and insulin-responsive glucose transporter (Glut4) represent two candidate genes involved in the development of non-insulin dependent diabetes mellitus (NIDDM); detection of molecular alterations in these genes might explain their possible contribution to NIDDM. 7814014 1995
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease BEFREE A genetic analysis of diabetic and non-diabetic Punjabi Sikhs (n = 164) was made for markers of non-insulin-dependent diabetes mellitus using insulin receptor, insulin, and HLA-D alpha chain gene probes. 2892607 1988
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease BEFREE A hallmark of type 2 diabetes is impaired insulin receptor (IR) signaling that results in dysregulation of glucose homeostasis. 27797911 2017
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease BEFREE A reduction in tyrosine phosphorylation of both the insulin receptor (IR) and the insulin receptor substrate-1 (IRS-1) has been noted in both animal and human type 2 diabetes. 10395191 1999
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease BEFREE Abbreviations: AC: adenylyl cyclase; AMPK: AMP-activated protein kinase; βAR: β-adrenergic receptor; CA: catecholamine; cAMP: cyclic adenosine monophosphate; cGMP: cyclic guanosine monophosphate; DPP-4: dipeptidyl peptidase-4; ERK: extracellular signal-regulated kinase; GC: guanylyl cyclase; GH: growth hormone; GLP-1: glucagon-like peptide-1; GLUT: glucose transporter; HSL: hormone-sensitive lipase; IR: insulin receptor; IRS: insulin receptor substrate; MAPK: mitogen-activated protein kinase; MEK: MAPK/ERK kinase; MG: maltase-glucoamylase; NP: natriuretic peptide; NPR: natriuretic peptide receptor; mTORC2: mechanistic target of rapamycin complex-2; PC: proanthocyanidin; PI3K: phosphoinositide 3-kinase; PKA: cAMP-dependent protein kinase; PKB (AKT): protein kinase B; PKG: cGMP-dependent protein kinase; PPARγ: peroxisome proliferator-activated receptor-γ; SGLT1: sodium-dependent glucose transporter 1; SI: sucrase-isomaltase; T2DM: type 2 diabetes mellitus; TNFα: tumor necrosis factor-α. 30773997 2019
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 AlteredExpression disease BEFREE Aberrant liver insulin receptor isoform a expression normalises with remission of type 2 diabetes after gastric bypass surgery. 25742416 2015
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE Accordingly, it is likely that mutations in the insulin-receptor gene may be a contributory cause of insulin resistance in a subpopulation with NIDDM. 1327927 1992
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE Allelic variants at insulin-receptor and insulin gene loci and susceptibility to NIDDM in Welsh population. 1978826 1990
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease BEFREE Allosteric modulation of the insulin receptor (IR) with monoclonal antibodies (mAbs) can enhance insulin sensitivity and restore glycemic control in animal models of T2D. 29453154 2018
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease BEFREE Altered insulin receptor signalling and β-cell cycle dynamics in type 2 diabetes mellitus. 22140505 2011
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE Although no significant association of restriction fragment length polymorphism with Type 2 diabetes was found in the present study, our results suggest that the restriction fragment length polymorphism in the human insulin receptor gene varies among ethnic groups, and that the restriction fragment length polymorphism linked to the human insulin receptor gene might be a useful marker for the linkage study of the genes located close to the human insulin receptor gene on chromosome 19. 2878850 1986
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 AlteredExpression disease BEFREE An asymmetrical reduction in the levels of the insulin receptor mRNA transcribed from one allele was reported in some patients with severe insulin resistance and non-insulin-dependent diabetes mellitus (NIDDM). 8481401 1993
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE Associations between type 2 diabetes (and/or parameters contributing to glucose homeostasis) and genetic variation in the genes encoding insulin receptor substrate (IRS)-1 and -2 have been reported in several populations. 11872698 2002
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE Because NIDDM is heterogeneous and perhaps polygenic in nature, these linkage analyses in families with NIDDM can be extended to other genes when they are cloned such as that coding for the insulin receptor. 3898768 1985
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease BEFREE Because the nature and location of the insertion did not suggest a role in insulin-receptor function, the association of this RFLP with NIDDM and hyperinsulinemia was reexamined in a small sample of Whites. 2566545 1989
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 AlteredExpression disease BEFREE Beyond these physiological roles of insulin, a shared feature between the periphery and CNS is that decreases in insulin receptor activity and signaling (i.e. insulin resistance) contributes to the pathological consequences of type 2 diabetes (T2DM) and obesity. 31028829 2019