rs121434592, AKT1

N. diseases: 54
Disease: Hypoglycemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
0.010 GeneticVariation BEFREE The p.Glu17Lys mutation of AKT2 confers low-level constitutive activity upon the kinase and produces hypoglycemia with suppressed fatty acid release from adipose tissue, but not fatty liver, hypertriglyceridemia, or elevated hepatic de novo lipogenesis.Hypoglycemia may spontaneously remit. 28541532 2017