MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 68; N. variants: 36
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519777
rs1057519777
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1378703
Disease:
Renal carcinoma 		G 0.700 GeneticVariation CLINVAR A diverse array of cancer-associated MTOR mutations are hyperactivating and can predict rapamycin sensitivity. 24631838 2014
dbSNP: rs1057519778
rs1057519778
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1378703
Disease:
Renal carcinoma 		T 0.700 GeneticVariation CLINVAR Tumor genetic analyses of patients with metastatic renal cell carcinoma and extended benefit from mTOR inhibitor therapy. 24622468 2014
dbSNP: rs1057519779
rs1057519779
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1057519779
rs1057519779
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.800 GeneticVariation UNIPROT
dbSNP: rs1057519779
rs1057519779
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1378703
Disease:
Renal carcinoma 		G 0.700 GeneticVariation CLINVAR A diverse array of cancer-associated MTOR mutations are hyperactivating and can predict rapamycin sensitivity. 24631838 2014
dbSNP: rs1057519780
rs1057519780
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0279680
Disease:
Transitional cell carcinoma of bladder 		T 0.700 GeneticVariation CLINVAR Activating mTOR mutations in a patient with an extraordinary response on a phase I trial of everolimus and pazopanib. 24625776 2014
dbSNP: rs1057519913
rs1057519913
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1458155
Disease:
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519913
rs1057519913
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0007134
Disease:
Renal Cell Carcinoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519913
rs1057519913
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0017636
Disease:
Glioblastoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519914
rs1057519914
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 GeneticVariation UNIPROT Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. 27830187 2016
dbSNP: rs1057519914
rs1057519914
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 GeneticVariation UNIPROT Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. 26018084 2015
dbSNP: rs1057519914
rs1057519914
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 GeneticVariation UNIPROT Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. 25878179 2015
dbSNP: rs1057519914
rs1057519914
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 GeneticVariation UNIPROT Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. 25799227 2015
dbSNP: rs1057519914
rs1057519914
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0017636
Disease:
Glioblastoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519914
rs1057519914
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0007134
Disease:
Renal Cell Carcinoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519914
rs1057519914
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1458155
Disease:
Mammary Neoplasms 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519914
rs1057519914
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0431391
Disease:
Hemimegalencephaly 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1057519915
rs1057519915
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0278701
Disease:
Gastric Adenocarcinoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519915
rs1057519915
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0007134
Disease:
Renal Cell Carcinoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519915
rs1057519915
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0153574
Disease:
Malignant Uterine Corpus Neoplasm 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519915
rs1057519915
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519915
rs1057519915
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1458155
Disease:
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519916
rs1057519916
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1458155
Disease:
Mammary Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519916
rs1057519916
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0153574
Disease:
Malignant Uterine Corpus Neoplasm 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519916
rs1057519916
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0007134
Disease:
Renal Cell Carcinoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016