Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2
Gene Symbol: A2M
A2M
0.010 Biomarker disease BEFREE By contrast, exposure to low or high peat caused several changes relative to FA-exposed rats 2 and 6 h post HF gavage including increased heart isovolumic relaxation time, decreased serum glucose and insulin, increased CD11 b/c-expressing blood monocytes, increased serum total cholesterol, alpha-1 acid glycoprotein, and alpha-2 macroglobulin (p = 0.063), decreased serum corticosterone, and increased lung gamma-glutamyl transferase. 29940449 2018
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
0.030 Biomarker disease BEFREE The result suggests that hepatic ABCA1 may not be a primary contributing factor for perturbations in HDL metabolism in obesity-induced hyperinsulinemia. 21574779 2011
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
0.030 GeneticVariation disease BEFREE Isolated low HDL-C subjects also demonstrated an increase in β-cell secretory capacity but in contrast to those with ABCA1 mutations, exhibited impaired insulin sensitivity, supporting β-cell compensation for increased insulin demand. 25125487 2015
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
0.030 Biomarker disease 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: 24
Gene Symbol: ABCA4
ABCA4
0.100 Biomarker disease HPO
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
0.010 GeneticVariation disease BEFREE A variant in the G6PC2/ABCB11 locus is associated with increased fasting plasma glucose, increased basal hepatic glucose production and increased insulin release after oral and intravenous glucose loads. 19669124 2009
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 GeneticVariation disease BEFREE Usher type 1C maps to the region containing the genes ABCC8 and KCNJ11 (encoding components of ATP-sensitive K + (KATP) channels), which may be mutated in patients with hyperinsulinism. 10973248 2000
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 GeneticVariation disease LHGDN Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 15562009 2005
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 Biomarker disease BEFREE Consistent with this paradigm, loss-of-function mutations in the genes (KCNJ11 and ABCC8) that encode the two subunits (Kir6.2 and SUR1, respectively) of the ATP-sensitive K(+) (K(ATP)) channel underlie hyperinsulinism in humans, a genetic disorder characterized by dysregulated insulin secretion. 17919182 2007
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 Biomarker disease BEFREE It has been known for some time that loss of function mutations in KCNJ11, which encodes for Kir6.2, and ABCC8, which encodes for SUR1, can cause oversecretion of insulin and result in hyperinsulinism of infancy, while activating mutations in KCNJ11 and ABCC8 have recently been described that result in the opposite phenotype of diabetes. 18767144 2009
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 Biomarker disease BEFREE It has been known for some time that loss of function mutations in KCNJ11, which encodes for Kir6.2, and ABCC8, which encodes for SUR1, can cause oversecretion of insulin and result in hyperinsulinemia (HI) of infancy; however, heterozygous activating mutations in KCNJ11 that result in the opposite phenotype of diabetes have recently been described. 16416420 2006
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 GeneticVariation disease BEFREE We describe the interesting case of an infant with PNDM, in whom a compound heterozygous activating/ inactivating mutation was found with clinically unaffected parents, each carrying a heterozygous mutation in ABCC8, one predicting gain of function (neonatal diabetes) and the other a loss of function (hyperinsulinemia). 22796691 2012
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 GeneticVariation disease BEFREE Hyperinsulinism-Causing Mutations Cause Multiple Molecular Defects in SUR1 NBD1. 28346775 2017
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 GeneticVariation disease BEFREE SUR1 or Kir6.2 mutations were found in six of seven focal adenomatous hyperplasia and three of five diffuse hyperinsulinism. 12210338 2002
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 Biomarker disease BEFREE We suggest that the hyperinsulinaemia that is observed in TPP may be linked to the ATP-sensitive K(+)/SUR1 alanine variant and, therefore, contribute to the major feedforward precipitating factors in the pathophysiology of TPP. 25143473 2014
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 GeneticVariation disease BEFREE The diminished glucose responsiveness suggests that SUR1 mutations and lack of KATP channel activity may contribute to the late development of diabetes in patients with hyperinsulinism independently of subtotal pancreatectomy. 11272143 2001
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 GeneticVariation disease BEFREE These results indicate that hyperinsulinism in this family is caused by a SUR1 mutation that is expressed dominantly rather than recessively. 12941782 2003
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 GeneticVariation disease BEFREE Our findings highlight that homozygous loss-of-function mutations of ABCC8 do not necessarily translate into early-onset severe hyperinsulinemia. 25720052 2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 GeneticVariation disease BEFREE The four known genetic causes for inborn hyperinsulinism (mutations in the genes ABCC8, KCNJ11, GLUD1, and GCK) were excluded. 12400064 2002
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 GeneticVariation disease BEFREE A combined immunohistochemistry and fluorescent in situ hybridization study on beta-cell interphase nuclei with probes covering two genes located in this region (ABCC8 and CDKN1C genes) was performed in four cases of focal forms of hyperinsulinism. 18796520 2008
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 GeneticVariation disease BEFREE We selected 15 hyperinsulinism of infancy patients and systematically sequenced the promoter and all coding exons and intron/exon boundaries of ABCC8 and KCNJ11. 15579781 2004
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 Biomarker disease BEFREE Loss of function mutations in the KCNJ11 and ABCC8 genes that encode for Kir6.2 and SUR1 can cause over-secretion of insulin and result in hyperinsulinism of infancy, while gain of function mutations in KCNJ11 and ABCC8 have recently been described that result in the opposite phenotype of diabetes.Genetic testing is important for patients with hyperinsulinism or neonatal diabetes, as identification of a K(ATP) channel mutation confirms a diagnosis of their disorder. 18998097 2008
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 GeneticVariation disease BEFREE Multiple mutations in Kir6.x and SUR genes have implicated K(ATP) channels in various diseases ranging from diabetes and hyperinsulinism to cardiac arrhythmias and cardiovascular disease. 19787700 2009
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 GeneticVariation disease BEFREE Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes. 21617188 2011
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 GeneticVariation disease BEFREE Most cases of hyperinsulinism of infancy (HI) are caused by mutations in either the sulfonylurea receptor-1 (SUR1) or the inward rectifying K(+) channel Kir6.2, two subunits of the beta-cell ATP-sensitive K(+) channel (K(ATP) channel). 11723059 2001