INS, insulin, 3630

N. diseases: 405; N. variants: 37
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE This suggests a possible link between the structure of the human INS gene promoter and the type of diabetes developed in these lines. 17127405 2007
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 AlteredExpression disease BEFREE We conclude that increased fasting proinsulin levels precede abnormalities of insulin secretion, and are an early indication of minor B-cell damage in these twins irrespective of their risk of developing diabetes. 3286344 1988
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Our results of INS VNTR polymorphism in patients with the onset of diabetes after 35 years of age confirm the association of Class I INS VNTR with autoimmune diabetes and the protective effect of Class III INS VNTR on the insulin secretion in GADA-positive subjects. 15046555 2004
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Elevated plasma proinsulin is a sign of β-cell dysfunction in patients with diabetes/prediabetes. 31074785 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Insulin-secreting INS-1E cells are a useful tool in diabetes research. 24399617 2017
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE The clinical presentation of MIDD which can be IDDM-like or NIDDM-like, its frequency of occurrence, possible pathogenic mechanisms and the contribution of other mitochondrial DNA mutations to the development of diabetes will be discussed. 9105898 1997
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Heterozygous mutations in the human preproinsulin (INS) gene are a cause of nonsyndromic neonatal or early-infancy diabetes. 20007936 2010
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Herein, we critically review the literature on the effects of proinsulin misfolding and ER stress on β-cell dysfunction and loss in diabetes with emphasis on β-cell dynamics, and discuss the gaps in understanding the role of proinsulin misfolding in the pathophysiology of diabetes. 30230182 2018
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE The INS gene was sequenced in 285 patients with diabetes diagnosed before 2 years of age, 296 probands with maturity-onset diabetes of the young (MODY), and 463 patients with young-onset type 2 diabetes (nonobese, diagnosed <45 years). 18162506 2008
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE The simultaneous effect of HLA and INS-VNTR alleles/genotypes predispose individuals to an increased risk of diabetes development. 18279373 2008
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Accumulated evidence indicates that, in the molecular pathogenesis of the disease, misfolded proinsulin exerts dominant effects that initially inhibit insulin production, progressing to beta cell demise with diabetes. 20724178 2010
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Different immunization strategies could prime preproinsulin-specific CD8 T-cells in wild-type C57BL/6 (B6) mice, but did not induce diabetes. 20484136 2010
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE We screened the INS gene by direct sequencing in 38 PND patients and in one child with nonautoimmune early-infancy diabetes, where no mutation in GCK, KCNJ11, and ABCC8 was identified. 18171712 2008
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Proinsulin processing is quite sensitive to nutrient flux, and β-cell-specific deletion of the nutrient-sensing protein modifier OGlcNAc transferase (βOGTKO) causes β-cell failure and diabetes, including early development of hyperproinsulinemia. 31300553 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Importantly, when replacing IAA with oxPTM-INS-Ab, diabetes risk increased to 100% in children with oxPTM-INS-Ab<sup>+</sup> in combination with GADA<sup>+</sup> and IA-2A<sup>+</sup> , compared with 84.37% in those with IAA<sup>+</sup> , GADA<sup>+</sup> , and IA-2A<sup>+</sup> (P = 0.04). 30693639 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE The diabetic milieu may impair proinsulin folding, leading to β-cell endoplasmic reticulum (ER) stress and apoptosis, and thus a worsening of the diabetes. 23380813 2013
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE True insulin and proinsulin were measured during a 75-g OGTT in 35 individuals: 20 with normal glucose tolerance (NGT) and without diabetes among their first-degree relatives (FDR) served as controls, and 15 with NGT who were FDR of patients with NIDDM. 10347771 1999
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE We previously reported the development of an oral vaccine for diabetes based on live attenuated Salmonella-expressing preproinsulin (PPI) as the autoantigen. 30416020 2018
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Although more than 18 diabetes-predisposing genes have been reported to date, only the major histocompatibility complex (HLA) region on chromosome 6p21 (IDDM1) and the insulin gene on chromosome 11p15 (IDDM 2) have been conclusively associated with susceptibility to type 1 diabetes. 17551474 2006
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE C-peptide and proinsulin were measured in fasting and stimulated sera from 319 subjects with long-standing type 1 diabetes (≥3 years) and 12 control subjects without diabetes. 30530850 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Autoantibody-negative patients were retested at median diabetes duration of 3.2 yr (range 0.9-16.2) for autoantibodies (GAD, IA2, ZnT8), human leukocyte antigen (HLA) typing, non-fasting C-peptide, and sequencing of HNF4A, HNF1A, KCNJ11, and INS. 21518407 2011
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE These findings indicate that elevated proinsulin and proinsulin/insulin ratios are secondary to increased demands on beta-cell secretion induced by hyperglycemia and insulin resistance with no discernible influence of family history of diabetes. 11978587 2002
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Proinsulin and PI:C were graded according to risk of diabetes as expressed by positivity for (multiple) antibodies or IA-2 antibodies, especially in persons carrying the high-risk HLA DQ2/DQ8 genotype and in prediabetic relatives. 16211374 2005
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE This case could help us understand the role of the INS mutation in the development of diabetes. 30915639 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Non-alcoholic fatty liver disease and impaired proinsulin conversion as newly identified predictors of the long-term non-response to a lifestyle intervention for diabetes prevention: results from the TULIP study. 28840257 2017