rs121434592, AKT1

N. diseases: 54
Disease: Meningioma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Meningioma
CUI: C0025286
Disease: Meningioma
0.020 GeneticVariation BEFREE Mutations in <i>NF2, TRAF7, SMO, KLF4</i>, and <i>AKT1</i> E17K did not predict RB1 S780 staining or progression in grade 1.5 meningiomas. 31615938 2020
Meningioma
CUI: C0025286
Disease: Meningioma
0.020 GeneticVariation BEFREE A subset of meningiomas lacking NF2 alterations harbored recurrent oncogenic mutations in AKT1 (p.Glu17Lys) and SMO (p.Trp535Leu) and exhibited immunohistochemical evidence of activation of these pathways. 23334667 2013