AKT1, AKT serine/threonine kinase 1, 207

N. diseases: 1250; N. variants: 33
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.690 Biomarker disease BEFREE Taking into consideration, recent results of the use of AKT inhibitors both in PS and AKT-mutant cancers, we treated the patient on a compassionate basis, with miransertib (ARQ 092), a potent, selective, allosteric AKT inhibitor. 31058421 2019
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.690 GeneticVariation disease BEFREE Proteus syndrome is a mosaic, progressive overgrowth disorder caused by a somatic activating variant c.49G > A p.(E17K) in AKT1. 31194862 2019
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.690 GeneticVariation disease BEFREE Proteus syndrome (PS) is a rare disorder caused by a mosaic AKT1 variant that comprises patchy overgrowth of tissues derived from all three germinal layers affecting multiple viscera. 30346092 2018
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.690 Biomarker disease BEFREE Here, we sought to determine whether we could reverse the hypertrophy in SHP2Y279C/+ mice using ARQ 092, an oral and selective allosteric AKT inhibitor currently in clinical trials for patients with PI3K/AKT-driven tumors or Proteus syndrome. 28582432 2017
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.690 GeneticVariation disease BEFREE Proteus syndrome (PS) is characterized by progressive, disproportionate, segmental overgrowth, and tumor susceptibility caused by a somatic mosaic AKT1 activating mutation. 27112325 2016
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.690 GeneticVariation disease BEFREE A somatic activating mutation in AKT1, c.49G>A, pGlu17Lys, that results in elevated AKT signaling in mutation-positive cells, is responsible for the mosaic overgrowth condition, Proteus syndrome. 26657992 2015
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.690 GeneticVariation disease BEFREE Proteus syndrome: Report of a case with AKT1 mutation in a dental cyst. 25782637 2015
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.690 GeneticVariation disease BEFREE Although the patient did not meet the diagnostic criteria for Proteus syndrome, he was found to have the c.49G>A, p.Glu17Lys AKT1 mutation in lesional skin but not in his blood. 24850616 2014
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.690 Biomarker disease GENOMICS_ENGLAND Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. 23246288 2013
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.690 Biomarker disease GENOMICS_ENGLAND Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis. 21793738 2011
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.690 GeneticVariation disease BEFREE Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis. 21793738 2011
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.690 SomaticCausalMutation disease ORPHANET Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis. 21793738 2011
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.690 Biomarker disease GENOMICS_ENGLAND Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis. 21793738 2011
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.690 GeneticVariation disease UNIPROT Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis. 21793738 2011
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.690 GeneticVariation disease UNIPROT Molecular mechanism of an oncogenic mutation that alters membrane targeting: Glu17Lys modifies the PIP lipid specificity of the AKT1 PH domain. 18954143 2008
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.690 Biomarker disease CTD_human