Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3630
Gene Symbol: INS
INS
0.700 GeneticVariation disease BEFREE They are common causes of MODY (10-60%): persistent incidental childhood hyperglycemia (10-60%) and gestational diabetes mellitus (1-2%). 26106223 2016
Entrez Id: 3630
Gene Symbol: INS
INS
0.700 Biomarker disease BEFREE We report the correction of hyperglycemia of STZ induced diabetic mice using one intravenous systemic administration of a single stranded serotype 8 pseudotyped adeno-associated virus (ssAAV2/8) vector encoding the human proinsulin gene under a constitutive liver specific promoter. 26795016 2016
Entrez Id: 3630
Gene Symbol: INS
INS
0.700 GeneticVariation disease BEFREE In this report we present a family with permanent neonatal diabetes, heterozygous for a novel INS gene missense mutation, p.A24V, manifested with marked hyperglycemia and ketoacidosis, unstable glycemic control, requiring insulin therapy, rapid progression of long-term complications and accompanying physical pathological signs and brain lesions. 25765664 2015
Entrez Id: 3630
Gene Symbol: INS
INS
0.700 AlteredExpression disease BEFREE Proinsulin levels remained within the normal range (suppressed with hypoglycemia) despite simultaneous almost unmeasurable C-peptide levels during hyperglycemia. 23337153 2014
Entrez Id: 3630
Gene Symbol: INS
INS
0.700 AlteredExpression disease BEFREE Expression of hProinsulin-B10 in the SMG of chemically induced diabetic mice prevented excessive hyperglycemia observed in untreated mice. 23554999 2013
Entrez Id: 3630
Gene Symbol: INS
INS
0.700 GeneticVariation disease BEFREE We report a rare case of permanent neonatal diabetes (PND) due to insulin (INS) gene mutation in a 51-month-old girl who presented with hyperglycemia in the neonatal period. 23350652 2013
Entrez Id: 3630
Gene Symbol: INS
INS
0.700 GeneticVariation disease BEFREE We confirmed that the risk allele of rs7903146 is associated with hyperglycaemia and a higher proinsulin/insulin ratio. 19183934 2009
Entrez Id: 3630
Gene Symbol: INS
INS
0.700 Biomarker disease CTD_mouse Diabetes models by screen for hyperglycemia in phenotype-driven ENU mouse mutagenesis projects. 18056790 2008
Entrez Id: 3630
Gene Symbol: INS
INS
0.700 Biomarker disease BEFREE In every patient, fasting insulin, proinsulin, C-peptide and 1,5-anhydro-d-glucitol concentrations were assayed as markers of insulin secretion, peripheral resistance to insulin, and acute hyperglycaemia. 17207885 2007
Entrez Id: 3630
Gene Symbol: INS
INS
0.700 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
Entrez Id: 3630
Gene Symbol: INS
INS
0.700 Biomarker disease CTD_human Reversible impairment of renal function associated with enalapril in a diabetic patient. 9861226 1999
Entrez Id: 3630
Gene Symbol: INS
INS
0.700 Therapeutic disease CTD_human Reversible impairment of renal function associated with enalapril in a diabetic patient. 9861226 1999
Entrez Id: 3630
Gene Symbol: INS
INS
0.700 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
Entrez Id: 3630
Gene Symbol: INS
INS
0.700 Biomarker disease BEFREE Adenovirus-mediated transfer of a modified human proinsulin gene reverses hyperglycemia in diabetic mice. 9814992 1998
Entrez Id: 3630
Gene Symbol: INS
INS
0.700 Biomarker disease CTD_human Iatrogenic neonatal hypertrophic cardiomyopathy. 8660453 1996
Entrez Id: 3630
Gene Symbol: INS
INS
0.700 Biomarker disease BEFREE Analysis of blood glucose in diabetic nude mice with transplanted cells showed that proinsulin production by these cells was strongly suppressed by GCV treatment in vivo as reflected by the reversal to hyperglycemia. 8646554 1996
Entrez Id: 3630
Gene Symbol: INS
INS
0.700 Therapeutic disease CTD_human Iatrogenic neonatal hypertrophic cardiomyopathy. 8660453 1996
Entrez Id: 3630
Gene Symbol: INS
INS
0.700 AlteredExpression disease BEFREE Proinsulin levels correlated with glucose levels, suggesting that hyperglycemia is the main stimulus for increased proinsulin secretion. 7821172 1995
Entrez Id: 3630
Gene Symbol: INS
INS
0.700 Biomarker disease HPO
Entrez Id: 2645
Gene Symbol: GCK
GCK
0.500 Biomarker disease BEFREE GCK-MODY leads to mildly elevated blood glucose typically not requiring therapy. 27106716 2017
Entrez Id: 2645
Gene Symbol: GCK
GCK
0.500 GeneticVariation disease BEFREE Mutations in exons 10 and 11 of human glucokinase result in conformational variations in the active site of the structure contributing to poor substrate binding - explains hyperglycemia in type 2 diabetic patients. 24720358 2016
Entrez Id: 2645
Gene Symbol: GCK
GCK
0.500 GeneticVariation disease BEFREE GCK mutations cause a mild, asymptomatic, and stable fasting hyperglycemia usually requiring no specific treatment. 25581748 2016
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.500 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
0.500 AlteredExpression disease BEFREE Diet-induced obesity (DIO) in mice developed hyperglycemia and insulin resistance, accompanying with a reduction of insulin receptor (INSR) expression. 26179126 2016
Entrez Id: 2645
Gene Symbol: GCK
GCK
0.500 Biomarker disease BEFREE People with GCK-MODY have a defect in glucose sensing; hence, glucose homeostasis is maintained at a higher set point resulting in mild, asymptomatic fasting hyperglycemia (5.4-8.3 mmol/L, HbA1c range 5.8-7.6% [40-60 mmol/mol]), which is present from birth and shows slight deterioration with age. 26106223 2016