Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434592
rs121434592
AKT1
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		0.730 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
dbSNP: rs121434592
rs121434592
AKT1
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		0.730 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