AKT2, AKT serine/threonine kinase 2, 208

N. diseases: 264; N. variants: 18
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C3278384
Disease:
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.800 GeneticVariation UNIPROT An activating mutation of AKT2 and human hypoglycemia. 21979934 2011
dbSNP: rs387906659
rs387906659
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C3278384
Disease:
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		T 0.800 CausalMutation CLINVAR