Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.030 Biomarker BEFREE <b>Results:</b> Addition of ApoA-I produced cAMP and increased insulin secretion, dose-dependently in high glucose concentration (25 mmmol/l). and ABCA1 protein and Cdc42 mRNA and protein were also enhanced. 30425683

2018

Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.010 AlteredExpression BEFREE <b>Results:</b> Addition of ApoA-I produced cAMP and increased insulin secretion, dose-dependently in high glucose concentration (25 mmmol/l). and ABCA1 protein and Cdc42 mRNA and protein were also enhanced. 30425683

2018

Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.030 Biomarker BEFREE (iv) The interference of a physiological response to insulin by ACE inhibitors or beta-blocking agents may have implications both for energy balance and thermoregulation during periods of hyperinsulinaemia in man. 8642232

1996

Entrez Id: 26291
Gene Symbol: FGF21
FGF21
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.070 AlteredExpression BEFREE 3-h hyperinsulinaemia during the clamp increased FGF21 levels in T2DM but not in C group. 19702724

2009

Entrez Id: 2997
Gene Symbol: GYS1
GYS1
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.010 Biomarker BEFREE Insulin increased GYS1 messenger ribonucleic acid (mRNA) expression in control subjects (from 0.14 +/- 0.02 to 1.74 +/- 0.10 relative units; P < 0.01) and in nondiabetic (from 0.24 +/- 0.05 to 1.81 +/- 0.16 relative units; P < 0.01) and diabetic (from 0.20 +/- 0.07 to 1.08 + 0.14 relative units; P < 0.01) twins. 10770201

2000

Entrez Id: 1962
Gene Symbol: EHHADH
EHHADH
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.020 Biomarker BEFREE Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. 11489939

2001

Entrez Id: 102723407
Gene Symbol: LOC102723407
LOC102723407
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.020 Biomarker BEFREE Insulin increased Akt serine phosphorylation in control subjects and IGT relatives, with a tendency for reduced phosphorylation in IGT relatives (P = 0.12). 11723060

2001

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.050 AlteredExpression BEFREE Insulin increased VEGF mRNA expression in cultured rat neonatal cardiac myocytes. 11804995

2002

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.700 Biomarker BEFREE Increased insulin and leptin sensitivity in mice lacking acyl CoA:diacylglycerol acyltransferase 1. 11956242

2002

Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.040 AlteredExpression BEFREE Insulin increased and aging reduced skeletal muscle PGC-1alpha and PGC-1beta mRNA levels. 15546003

2004

Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.400 Biomarker BEFREE Insulin increased insulin receptor substrate 1 (IRS-1) tyrosine phosphorylation, IRS-1-associated phosphatidylinositol (PI) 3-kinase activity, and phosphorylation of Akt Ser473 and AS160, a newly described Akt substrate that plays a role in GLUT4 exocytosis, approximately 2.3 fold before treatment. 15855334

2005

Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.020 GeneticVariation BEFREE Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene. 15870679

2005

Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.030 PosttranslationalModification BEFREE Insulin increased phosphorylation of Akt and Akt substrate of 160 kDa (AS160) in a dose-dependent manner, with comparable responses between groups. 16644684

2006

Entrez Id: 9370
Gene Symbol: ADIPOQ
ADIPOQ
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.300 AlteredExpression BEFREE Insulin increased adiponectin expression specifically in the omental tissue (P = 0.011). 18208577

2008

Entrez Id: 6347
Gene Symbol: CCL2
CCL2
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.560 AlteredExpression BEFREE Insulin increased MCP-1 gene and protein expression significantly more in the insulin-resistant than in the insulin-sensitive subjects. 18270300

2008

Entrez Id: 4846
Gene Symbol: NOS3
NOS3
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.340 GeneticVariation BEFREE Hyperinsulinemia and impaired leptin-adiponectin ratio associate with endothelial nitric oxide synthase polymorphisms in subjects with in-stent restenosis. 18349107

2008

Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.010 Biomarker BEFREE Increased insulin demand promotes while pioglitazone prevents pancreatic beta cell apoptosis in Wfs1 knockout mice. 19190890

2009

Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 AlteredExpression BEFREE Insulin increased PAI-1 promoter activity, PAI-1 mRNA, and accumulation of PAI-1 protein in the conditioned media. 20299979

2010

Entrez Id: 2746
Gene Symbol: GLUD1
GLUD1
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.400 GeneticVariation BEFREE Hyperinsulinism/ hyperammonemia (HI/HA) syndrome is caused by excessive activity of glutamate dehydrogenase (GDH) encoded by GLUD1 gene, which oxidizes glutamate to alpha-ketoglutarate and which is a potential regulator of insulin secretion in pancreatic beta cells and of ureagenesis in the liver. 20857847

2010

Entrez Id: 3033
Gene Symbol: HADH
HADH
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.060 GeneticVariation BEFREE Hyperinsulinemia associated with non-ketotic hypoglycemia is observed in patients with mutated β-oxidation enzyme short-chain 3-hydroxyacyl-CoA dehydrogenase (HADHSC). 20923481

2010

Entrez Id: 6093
Gene Symbol: ROCK1
ROCK1
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.010 AlteredExpression BEFREE Insulin increased ROCK1 activity 2.1-fold in lean and 1.7-fold in obese nondiabetic subjects in muscle. 21189360

2011

Entrez Id: 8654
Gene Symbol: PDE5A
PDE5A
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.010 AlteredExpression BEFREE Insulin increased the expression of PDE5 and eNOS mRNA assayed by Real time-PCR. 21297971

2011

Entrez Id: 6515
Gene Symbol: SLC2A3
SLC2A3
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.010 AlteredExpression BEFREE Hyperinsulinemia, associated with partial lipodystrophy, elevated RBP4, low adiponectin levels, and decreased expression of GLUT3 and GLUT4 were detected. 21883748

2012

Entrez Id: 6517
Gene Symbol: SLC2A4
SLC2A4
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 AlteredExpression BEFREE Hyperinsulinemia, associated with partial lipodystrophy, elevated RBP4, low adiponectin levels, and decreased expression of GLUT3 and GLUT4 were detected. 21883748

2012

Entrez Id: 5166
Gene Symbol: PDK4
PDK4
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.020 Biomarker BEFREE Hyperinsulinaemia and hyperglycaemia exerted independent effects with similar direction of modulation on PI3KR1 (phosphatidylinositol 3-kinase, regulatory 1), LXRα (liver X receptor α), PDK4 (pyruvate dehydrogenase kinase 4) and FOXO1 (forkhead box O1A) and produced an additive effect on PI3KR1, the gene that encodes the p85α subunit of PI3K in human skeletal muscle. 23316693

2013