Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3630
Gene Symbol: INS
INS
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.700 GeneticVariation 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
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.700 GeneticVariation CLINVAR INS-gene mutations: from genetics and beta cell biology to clinical disease. 25542748

2015

Entrez Id: 3630
Gene Symbol: INS
INS
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.700 GeneticVariation CLINVAR Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. 18192540

2008

Entrez Id: 3630
Gene Symbol: INS
INS
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.700 GeneticVariation CLINVAR Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. 18162506

2008

Entrez Id: 3630
Gene Symbol: INS
INS
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.700 GeneticVariation 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
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.700 GeneticVariation CLINVAR Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY). 20226046

2010

Entrez Id: 3630
Gene Symbol: INS
INS
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.700 GeneticVariation 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
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.700 GeneticVariation CLINVAR Insulin gene mutations as a cause of permanent neonatal diabetes. 17855560

2007

Entrez Id: 3630
Gene Symbol: INS
INS
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.700 GeneticVariation BEFREE They are common causes of MODY (10-60%): persistent incidental childhood hyperglycemia (10-60%) and gestational diabetes mellitus (1-2%). 26106223

2015

Entrez Id: 3630
Gene Symbol: INS
INS
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.700 GeneticVariation BEFREE We confirmed that the risk allele of rs7903146 is associated with hyperglycaemia and a higher proinsulin/insulin ratio. 19183934

2009

Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation BEFREE We studied 86 adult offspring (mean age 40 years), 49 born to glucokinase mothers (exposed to hyperglycaemia in utero) and 37 born to glucokinase fathers (controls). 17216282

2007

Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation CLINVAR "MODY 2 presenting as neonatal hyperglycaemia: a need to reshape the definition of ""neonatal diabetes""?" 11079754

2000

Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation BEFREE To assess the association between chronic, mild hyperglycemia and complication prevalence and severity in patients with GCK mutations. 24430320

2014

Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation BEFREE Moreover, an additive effect of GCKR rs1260326(T) and GCK (-30G) alleles conferred lower fasting glycemia (P = 1 x 10(-13)), insulinemia (P = 5 x 10(-6)), and hyperglycemia risk (P = 1 x 10(-6)). 18556336

2008

Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation BEFREE In pregnancies where the mother has hyperglycemia due to a GCK mutation, knowing the fetal GCK genotype guides the management of maternal hyperglycemia. 22773699

2012

Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation BEFREE Functional studies of naturally occurring GCK mutations associated with hyperglycaemia provide further insight into the biochemical basis of glucose sensor regulation. 17186219

2007

Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation BEFREE Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis. 10525657

1999

Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation CLINVAR Glucokinase gene mutation screening in Argentinean clinically characterized MODY patients. 19358091

2009

Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation BEFREE MODY due to mutations in the glucokinase gene is a relatively mild form of diabetes with mild fasting hyperglycemia and IGT in the majority. 8035658

1994

Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation BEFREE We found that multiple cave populations carry a mutation in the insulin receptor that leads to decreased insulin binding in vitro and contributes to hyperglycaemia. 29562229

2018

Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation BEFREE The principal objective of the current study is to determine the outcomes and clinical management of hyperglycemia in pregnancies complicated by glucokinase gene (GCK) and hepatocyte nuclear factor (HNF)-1α MODY mutations. 25935773

2015

Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation CLINVAR GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY). 12442280

2002

Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation BEFREE The glucokinase V62M and G72R mutations are naturally occurring and known to associate with hyperglycemia in humans. 19187021

2009

Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation BEFREE Mutations in glucokinase/MODY2 result in mild chronic hyperglycaemia due to reduced pancreatic beta-cell responsiveness to glucose as well as decreased net accumulation of hepatic glycogen and increased hepatic gluconeogenesis following meals. 9162575

1997

Entrez Id: 2645
Gene Symbol: GCK
GCK
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation BEFREE Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia. 30592380

2019