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
Maturity onset diabetes mellitus in young
0.900 Biomarker disease BEFREE Methods Mutation analysis of MODY genes (GCK, HNF1A, HNF4A, HNF1B, ABCC8, INS and KCNJ11) was performed using targeted NGS in 106 patients with a clinical diagnosis of MODY. 30447144 2018
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE In conclusion, we identified a causative mutation in INS responsible for maturity-onset diabetes of the young 10 (MODY10) in a Chinese population and demonstrated that this mutation affected β cell function by inducing ER stress. 28992123 2017
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE Another monogenic diabetes gene, the preproinsulin gene (INS), is unique in that INS mutations can cause hyperinsulinemia, hyperproinsulinemia, neonatal diabetes mellitus, one type of maturity-onset diabetes of the young (MODY10), and autoantibody-negative T1D. 27035557 2016
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE Mutations in the insulin (INS) gene rarely occur in patients with MODY. 27659712 2016
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE Mutations in the insulin (INS) gene rarely occur in patients with Maturity-Onset Diabetes of the Young (MODY). 25721872 2015
Maturity onset diabetes mellitus in young
0.900 Biomarker disease BEFREE This may also have a negative effect on the WT proinsulin simultaneously biosynthesized in β-cells and therefore play a major role in the development of MODY in patients producing [GlnB22]-insulin. 25423173 2014
Maturity onset diabetes mellitus in young
0.900 GermlineCausalMutation disease ORPHANET The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. 22498247 2012
Maturity onset diabetes mellitus in young
0.900 GeneticVariation disease BEFREE Mutations in NEUROD1, PDX1 (IPF1), CEL and INS are rare causes of MODY. 21521318 2011
Maturity onset diabetes mellitus in young
0.900 Biomarker disease BEFREE The INS gene was sequenced in 16 French probands with unexplained MODY, 95 patients with nonautoimmune early-onset diabetes (diagnosed at <35 years) and 292 normoglycemic control subjects of French origin. 20007936 2010
Maturity onset diabetes mellitus in young
0.900 Biomarker disease BEFREE The most frequent genes involved in monogenic diabetes [KCNJ11 and INS for neonatal diabetes and HNF1A and HNF4A for maturity-onset diabetes of the young (MODY)] were directly sequenced. 19900242 2009
Maturity onset diabetes mellitus in young
0.900 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
Maturity onset diabetes mellitus in young
0.900 Biomarker disease MGD Ins2Akita mice exhibit hyperphagia and anxiety behavior via the melanocortin system. 17334640 2007
Maturity onset diabetes mellitus in young
0.900 Biomarker disease MGD Senescence-associated phenotypes in Akita diabetic mice are enhanced by absence of bradykinin B2 receptors. 16604193 2006
Maturity onset diabetes mellitus in young
0.900 Biomarker disease MGD The Ins2Akita mouse as a model of early retinal complications in diabetes. 15914643 2005
Maturity onset diabetes mellitus in young
0.900 Biomarker disease MGD New mouse model to study islet transplantation in insulin-dependent diabetes mellitus. 11981430 2002
Maturity onset diabetes mellitus in young
0.900 Biomarker disease BEFREE Fasting proinsulin and the proinsulin/insulin ratio were similar in MODY members of kindred LZ and subjects from control group 1, but were significantly lower than in MODY members of kindred SA (P < 0.02 and P < 0.01, for proinsulin and proinsulin/insulin ratio, respectively). 10347805 1999
Maturity onset diabetes mellitus in young
0.900 Biomarker disease MGD Mapping of murine diabetogenic gene mody on chromosome 7 at D7Mit258 and its involvement in pancreatic islet and beta cell development during the perinatal period. 9593767 1998
Maturity onset diabetes mellitus in young
0.900 Biomarker disease MGD A novel locus, Mody4, distal to D7Mit189 on chromosome 7 determines early-onset NIDDM in nonobese C57BL/6 (Akita) mutant mice. 9133560 1997
Maturity onset diabetes mellitus in young
0.900 Biomarker disease BEFREE We determined GAD and islet cell (ICA512) autoantibodies from 215 NIDDM individuals and from 14 individuals with impaired glucose tolerance (IGT) of 68 families, including 1 family with maturity-onset diabetes of the young (MODY) and 3 families ascertained specifically for a mixture of NIDDM and IDDM. 9250448 1997
Maturity onset diabetes mellitus in young
0.900 Biomarker disease HPO
Maturity onset diabetes mellitus in young
0.900 Biomarker disease GENOMICS_ENGLAND
Maturity onset diabetes mellitus in young
0.900 Biomarker disease GENOMICS_ENGLAND