Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.700 Biomarker GENOMICS_ENGLAND Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway. 28502730

2017
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.700 GermlineCausalMutation ORPHANET Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia. 24285683

2014
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.700 Biomarker GENOMICS_ENGLAND Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia. 24285683

2014
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.700 GermlineCausalMutation ORPHANET An activating mutation of AKT2 and human hypoglycemia. 21979934

2011
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.700 GeneticVariation UNIPROT An activating mutation of AKT2 and human hypoglycemia. 21979934

2011
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.700 Biomarker GENOMICS_ENGLAND Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes. 17327441

2007
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.700 Biomarker GENOMICS_ENGLAND A family with severe insulin resistance and diabetes due to a mutation in AKT2. 15166380

2004
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.700 Biomarker CTD_human

Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.700 Biomarker GENOMICS_ENGLAND