Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		0.690 Biomarker GENOMICS_ENGLAND Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. 23246288

2013
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		0.690 Biomarker 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
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		0.690 SomaticCausalMutation 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
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		0.690 Biomarker 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
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		0.690 GeneticVariation 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
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		0.690 GeneticVariation UNIPROT Molecular mechanism of an oncogenic mutation that alters membrane targeting: Glu17Lys modifies the PIP lipid specificity of the AKT1 PH domain. 18954143

2008
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		0.690 Biomarker CTD_human