|
rs1557043622
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
|
rs867410737
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
|
29478781 |
2018 |
|
rs372949028
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
|
26805781 |
2016 |
|
rs752298579
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
|
26805781 |
2016 |
|
rs1057518775
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1344172059
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs141322087
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs146036912
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs146539065
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1801175
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs587782995
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs763028380
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs776969714
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs869025222
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs886039469
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs5219
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Furthermore, it is demonstrated that the KCNJ11 E23K polymorphism in association to either of the two genes' DNA methylation may have protective role against sulfonylurea-induced hypoglycemia.
|
29396966 |
2019 |
|
rs5219
|
|
|
0.040 |
GeneticVariation |
BEFREE |
KCNJ11 E23K polymorphism is not associated with increased risk of mild hypoglycemia in sulfonylurea-treated T2DM patients.
|
22591706 |
2012 |
|
rs5219
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The E23K variant of KCNJ11 and the risk for severe sulfonylurea-induced hypoglycemia in patients with type 2 diabetes.
|
19214942 |
2009 |
|
rs5219
|
|
|
0.040 |
GeneticVariation |
BEFREE |
However, no significant effect of the Glu23Lys polymorphism on impaired hypoglycaemia awareness was observed with or without adjustment for age, diabetes duration, C-peptide, and HbA(1c).
|
16142506 |
2005 |
|
rs121909730
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Mitochondrial GTP (mtGTP)-insensitive mutations in glutamate dehydrogenase (GDH(H454Y)) result in fasting and amino acid-induced hypoglycemia in hyperinsulinemia hyperammonemia (HI/HA).
|
25024374 |
2014 |
|
rs1042713
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The effect of antecedent hypoglycaemia on β₂-adrenergic sensitivity in healthy participants with the Arg16Gly polymorphism of the β₂-adrenergic receptor.
|
21298412 |
2011 |
|
rs137853238
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here, we report on a 40-year-old male patient with HNF1A mutation p.Arg272His (c.815G>A) having a history of fetal macrosomia (4750 g, 59 cm), and, at least, one attack of symptomatic hypoglycemia in childhood.
|
21648289 |
2011 |
|
rs137853238
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here, we report a 40-year-old male patient with HNFJA mutation p.Arg272His (c.815G>A) with a history of fetal macrosomia (4750 g, 59 cm) and, at least, one attack of symptomatic hypoglycemia in childhood.
|
21823540 |
2011 |
|
rs1042713
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We performed genotyping of the A265G (Arg16Gly) polymorphism in the ADRB2 gene in 85 patients with type 1 diabetes and classified them according to hypoglycemia awareness status.
|
18334922 |
2008 |
|
rs121909730
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In conclusion, we generated a GDH-HI disease mouse model that has a hypoglycemia phenotype and confirmed that the mutation of H454Y is disease causing.
|
16574664 |
2006 |