TBC1D4, TBC1 domain family member 4, 9882

N. diseases: 17; N. variants: 12
Disease: Hyperinsulinism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020459
Disease: Hyperinsulinism
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
CUI: C0020459
Disease: Hyperinsulinism
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
CUI: C0020459
Disease: Hyperinsulinism
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