AKT2, AKT serine/threonine kinase 2, 208

N. diseases: 264; N. variants: 18
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.700 Biomarker disease GENOMICS_ENGLAND Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway. 28502730 2017
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.700 GermlineCausalMutation disease ORPHANET Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia. 24285683 2014
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.700 Biomarker disease GENOMICS_ENGLAND Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia. 24285683 2014
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.700 GermlineCausalMutation disease ORPHANET An activating mutation of AKT2 and human hypoglycemia. 21979934 2011
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.700 GeneticVariation disease UNIPROT An activating mutation of AKT2 and human hypoglycemia. 21979934 2011
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.700 Biomarker disease GENOMICS_ENGLAND Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes. 17327441 2007
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.700 Biomarker disease GENOMICS_ENGLAND A family with severe insulin resistance and diabetes due to a mutation in AKT2. 15166380 2004
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.700 Biomarker disease CTD_human
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.700 CausalMutation disease CLINVAR