AKT1, AKT serine/threonine kinase 1, 207

N. diseases: 1250; N. variants: 33
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514644
rs397514644
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C3554519
Disease:
COWDEN SYNDROME 6 		A 0.800 CausalMutation CLINVAR
dbSNP: rs397514645
rs397514645
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C3554519
Disease:
COWDEN SYNDROME 6 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.770 GeneticVariation UNIPROT
dbSNP: rs2494732
rs2494732
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C3160814
Disease:
Cannabis use 		0.040 GeneticVariation BEFREE Cannabis use preceding onset of psychotic disorder did interact significantly with AKT1 rs2494732 genotype to affect CPT reaction time (β=8.0, SE 3.9, p=0.037) and CPT accuracy (β=-1.2, SE 0.4, p=0.003). 21775978 2011
dbSNP: rs201227909
rs201227909
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0206180
Disease:
Ki-1+ Anaplastic Large Cell Lymphoma 		0.010 GeneticVariation BEFREE ALCL xenografts selected <i>in vivo</i> showed recurrent N1178H (5/10 mice) and G1269A (4/10 mice) mutations. 30322862 2018
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0085261
Disease:
Proteus Syndrome 		0.730 GeneticVariation BEFREE Proteus syndrome (PS) is an ultra-rare disease characterized by progressive, disproportionate, segmental overgrowth caused by a somatic gain-of-function mutation p.Glu17Lys in the oncogene AKT1. 31058421 2019
dbSNP: rs2494752
rs2494752
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0278701
Disease:
Gastric Adenocarcinoma 		0.010 GeneticVariation BEFREE A Functional Polymorphism (rs2494752) in the AKT1 Promoter Region and Gastric Adenocarcinoma Risk in an Eastern Chinese Population. 26818920 2016
dbSNP: rs2494732
rs2494732
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0036341
Disease:
Schizophrenia 		0.030 GeneticVariation BEFREE A meta-analysis of the associations between genetic variants in the AKT1 gene and schizophrenia found that a single nucleotide polymorphism (SNP5; rs2494732) was associated with schizophrenia in Asian populations. 22150081 2013
dbSNP: rs1057519804
rs1057519804
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0025202
Disease:
melanoma 		T 0.700 GeneticVariation CLINVAR A novel AKT1 mutant amplifies an adaptive melanoma response to BRAF inhibition. 24265152 2014
dbSNP: rs1130233
rs1130233
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0850666
Disease:
Infection caused by Helicobacter pylori 		0.010 GeneticVariation BEFREE A significant interaction existed between the AKT rs1130233 genotype and H. pylori infection in CON→AG→GC disease progression. 26317520 2015
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0085261
Disease:
Proteus Syndrome 		0.730 GeneticVariation 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
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
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
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0149782
Disease:
Squamous cell carcinoma of lung 		0.010 GeneticVariation BEFREE Activating E17K mutation in the gene encoding the protein kinase AKT1 in a subset of squamous cell carcinoma of the lung. 18256540 2008
dbSNP: rs2494752
rs2494752
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C2239176
Disease:
Liver carcinoma 		0.010 GeneticVariation BEFREE Additionally, results revealed that AKT1 rs2494752</span> GG and C increased the risk factors of HCC. 30127980 2018
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0346647
Disease:
Malignant neoplasm of pancreas 		0.010 GeneticVariation BEFREE AKT1 (E17K) mutation in pancreatic cancer. 18783292 2008
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0235974
Disease:
Pancreatic carcinoma 		0.010 GeneticVariation BEFREE AKT1 (E17K) mutation in pancreatic cancer. 18783292 2008
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.770 GeneticVariation BEFREE AKT1 E17K is a bona fide oncogene in a human luminal breast cancer context. 23888070 2013
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0678222
Disease:
Breast Carcinoma 		0.060 GeneticVariation BEFREE AKT1 E17K is a bona fide oncogene in a human luminal breast cancer context. 23888070 2013
dbSNP: rs2498801
rs2498801
Entrez Id: 207;102723342
Gene Symbol: AKT1;LOC102723342
AKT1;LOC102723342
CUI: C0751688
Disease:
Malignant Squamous Cell Neoplasm 		0.010 GeneticVariation BEFREE Akt1 rs2498801 is related to survival in head and neck squamous cell cancer treated with radiotherapy. 25550560 2015
dbSNP: rs2498801
rs2498801
Entrez Id: 207;102723342
Gene Symbol: AKT1;LOC102723342
AKT1;LOC102723342
CUI: C0007137
Disease:
Squamous cell carcinoma 		0.010 GeneticVariation BEFREE Akt1 rs2498801 is related to survival in head and neck squamous cell cancer treated with radiotherapy. 25550560 2015
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.030 GeneticVariation BEFREE AKT1 E17K in Colorectal Carcinoma Is Associated with BRAF V600E but Not MSI-H Status: A Clinicopathologic Comparison to PIK3CA Helical and Kinase Domain Mutants. 25714871 2015
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C1710096
Disease:
Sinonasal undifferentiated carcinoma 		0.010 GeneticVariation BEFREE AKT1 E17K and KIT D816V hotspot variants were each detected in one IDH2-mutated SNUC. 28493366 2017
dbSNP: rs1130214
rs1130214
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0011581
Disease:
Depressive disorder 		0.020 GeneticVariation BEFREE AKT1 gene polymorphism rs1130214 is associated with antidepressant treatment response in patients with depressive disorders. 26515520 2016
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.770 GeneticVariation BEFREE AKT1 mutations (E17K) have been found in 1.4-8% of breast cancer patients. 29086897 2018
dbSNP: rs121434592
rs121434592
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C0678222
Disease:
Breast Carcinoma 		0.060 GeneticVariation BEFREE AKT1 mutations (E17K) have been found in 1.4-8% of breast cancer patients. 29086897 2018