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 Three of the patients with an INS mutation were diagnosed with diabetes between 6 and 12 months of age. 18662362 2008
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Despite evidence from several relatively small studies suggesting that INS-VNTR genotypes are associated with predisposition to type 2 diabetes, reduced beta cell function and measures of adiposity, the present study failed to detect any association with a range of diabetes-related traits. 15834700 2005
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE It was hypothesized that the INS gene region provides a common genetic causality for diabetes in Samoyeds and Australian Terriers. 31587057 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Parental history of hypertension and parental history of diabetes and microvascular complications in insulin-dependent diabetes mellitus: the EURODIAB IDDM Complications Study. 9609365 1998
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE The IDDM2 diabetes susceptibility locus maps to a minisatellite composed of a variable number of tandem repeats situated 0.5 kb upstream of INS. 11502799 2001
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 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 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 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 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 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 GeneticVariation disease BEFREE However, the T allele (conferring higher risk of diabetes) at rs7903146 was associated with higher fasting proinsulin at baseline (P<0.001), higher baseline proinsulin:insulin ratio (p<0.0001) and increased proinsulin:insulin ratio over a median of 2.5 years of follow-up (P = 0.003). 21814547 2011
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE A novel heterozygous frameshift mutation p.Gln78fs in the INS gene was found in three generations of patients with clinically distinct diabetes. 25721872 2015
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Here, we study Type 1 Diabetes Mellitus (T1D), focusing on growth of glutamate, β-alanine, taurine and hypotaurine, and butanoate metabolisms involved in onset of GAD and INS genes in Homo sapiens with comparative analysis in non-obese diabetic Mus musculus, biobreeding Diabetes-prone Rattus norvegicus, Pan troglodytes, Oryctolagus cuniculus, Danio rerio and Drosophila melanogaster respectively. 25862998 2015
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Beyond neonatal diabetes mellitus (NDM), KCNJ11 is also a MODY gene ('MODY13'), confirming the wide spectrum of diabetes related phenotypes due to mutations in NDM genes (i.e.KCNJ11, ABCC8 and INS). 22701567 2012
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE The possible association of human growth hormone (hGH) and insulin (INS) gene regions with metabolic control in diabetes was investigated in 98 subjects with non-insulin-dependent diabetes mellitus (NIDDM); 54 control subjects from the same population were also studied. 10778862 2000
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes in the Danish population. DIEGG and DSGD. Danish IDDM Epidemiology and Genetics Group and The Danish Study Group of Diabetes in Childhood. 10447260 1999
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Estimation of diabetes risk in Brazilian population by typing for polymorphisms in HLA-DR-DQ, INS and CTLA-4 genes. 16276008 2005
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE The detection of T cell proliferation and autoantibodies to insulin in subjects with and without the protective INS VNTR-IDDM2 locus genotypes does not support the hypothesis of an allele-specific capacity for tolerance induction which could determine a susceptibility to develop autoimmunity against the insulin protein and subsequently diabetes. 9844045 1998
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE A total of 40 individuals with diabetes (1.8% of early onset sub-group and 0.6% of adult onset sub-group) were carriers of known pathogenic missense variants in the GCK, HNF1A, HNF4A, ABCC8, and INS genes. 29207974 2017
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE The insulin gene variable number tandem repeat (INS-VNTR) is proposed to exert pleiotropic genetic effects on birth weight and diabetes susceptibility. 12502511 2003
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE We identified one missense mutation (G32S) in the INS gene and two mutations (R131Q and R203S) in the HNF1α gene that could be associated with diabetes. 27398945 2016
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE We hope to emphasize instead the homogeneity of nephropathy risk in both IDDM and NIDDM and also the idea that a common genetic susceptibility exists for all types of diabetes and is conditional on cumulative exposure to hyperglycemia. 9649955 1998
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation. 26530398 2016
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease BEFREE Diabetes develops when the beta cell is stressed because of increased demand for insulin, as observed in individuals with other insulin mutations that affect the processing of proinsulin to insulin or mutations that reduce the affinity for the insulin receptor. 28478482 2017