|
DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5
|
0.400 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Anorectal Malformations
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Gene network analysis of candidate loci for human anorectal malformations.
|
23936318 |
2013 |
|
Mean Corpuscular Volume (result)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
|
29403010 |
2018 |
|
Finding of Mean Corpuscular Hemoglobin
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
|
29403010 |
2018 |
|
Glucose tolerance test
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes.
|
25043022 |
2014 |
|
Diabetic Retinopathy
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study in a Chinese population with diabetic retinopathy.
|
23562823 |
2013 |
|
Insulin Resistance
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
In humans, variants in TBC1D1 and TBC1D4 are linked to obesity and insulin resistance and type 2 diabetes.
|
31627187 |
2020 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
In a recent study using a standard additive genetic model, we identified a TBC1D4 loss-of-function variant with a large recessive impact on risk of type 2 diabetes in Greenlanders.
|
29926116 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.050 |
Biomarker
|
disease |
BEFREE |
Two related RabGAPs, TBC1D1 and TBC1D4 (=AS160) have been described to be associated with obesity-related traits and type 2 diabetes in both mice and humans.
|
29784647 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
TBC1D4 carriers with prediabetes and type 2 diabetes had an increased risk of remaining undiagnosed unless postprandial glucose values were tested (odds ratio 5.4 [95% CI 2.5-12]) compared with noncarriers.
|
27561922 |
2016 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes.
|
25043022 |
2014 |
|
Hyperinsulinism
|
0.030 |
Biomarker
|
disease |
BEFREE |
The data support the idea that TBC1D4 is a nexus for insulin- and exercise-responsive signals that may mediate increased insulin action after exercise.
|
19252894 |
2009 |
|
Hyperinsulinism
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
A female presenting at age 11 years with acanthosis nigricans and extreme postprandial hyperinsulinemia was heterozygous for a premature stop mutation (R363X) in TBC1D4.
|
19470471 |
2009 |
|
Hyperinsulinism
|
0.030 |
PosttranslationalModification
|
disease |
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 |
|
Obesity
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
In humans, variants in TBC1D1 and TBC1D4 are linked to obesity and insulin resistance and type 2 diabetes.
|
31627187 |
2020 |
|
Obesity
|
0.020 |
Biomarker
|
disease |
BEFREE |
Two related RabGAPs, TBC1D1 and TBC1D4 (=AS160) have been described to be associated with obesity-related traits and type 2 diabetes in both mice and humans.
|
29784647 |
2018 |
|
Polycystic Ovary Syndrome
|
0.020 |
Biomarker
|
disease |
BEFREE |
In type 2 diabetes, obesity and PCOS, there is, although with some variation from study to study, defects in insulin signaling through IRS1, PI3K, Akt2 and AS160/TBC1D4, which can explain reduced insulin action on glucose transport.
|
25123125 |
2014 |
|
Polycystic Ovary Syndrome
|
0.020 |
AlteredExpression
|
disease |
LHGDN |
Impaired insulin-stimulated phosphorylation of Akt and AS160 in skeletal muscle of women with polycystic ovary syndrome is reversed by pioglitazone treatment.
|
17977950 |
2008 |
|
Diabetes
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Association testing evaluated the effect of the TBC1D4 variant on diabetes-related metabolic traits and diagnosis.
|
27561922 |
2016 |
|
Diabetes Mellitus
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Association testing evaluated the effect of the TBC1D4 variant on diabetes-related metabolic traits and diagnosis.
|
27561922 |
2016 |
|
Prediabetes syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
TBC1D4 carriers with prediabetes and type 2 diabetes had an increased risk of remaining undiagnosed unless postprandial glucose values were tested (odds ratio 5.4 [95% CI 2.5-12]) compared with noncarriers.
|
27561922 |
2016 |
|
Acanthosis Nigricans
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A female presenting at age 11 years with acanthosis nigricans and extreme postprandial hyperinsulinemia was heterozygous for a premature stop mutation (R363X) in TBC1D4.
|
19470471 |
2009 |
|
Dermatitis, Atopic
|
0.010 |
AlteredExpression
|
disease |
LHGDN |
Expression of KIAA0603 in T cells may be involved in pathogenesis of AD.
|
15304337 |
2004 |