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: rs1085307113
rs1085307113
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR
T 0.810 CausalMutation CLINVAR
dbSNP: rs1085307113
rs1085307113
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR
G 0.810 CausalMutation CLINVAR
dbSNP: rs118203946
rs118203946
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy
C 0.810 CausalMutation CLINVAR
dbSNP: rs118203951
rs118203951
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy
C 0.810 CausalMutation CLINVAR
dbSNP: rs863225264
rs863225264
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME
T 0.810 CausalMutation CLINVAR
dbSNP: rs1057519779
rs1057519779
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR
G 0.800 CausalMutation CLINVAR
dbSNP: rs1085307114
rs1085307114
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR
C 0.800 CausalMutation CLINVAR
dbSNP: rs118203945
rs118203945
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy
G 0.800 CausalMutation CLINVAR
dbSNP: rs118203947
rs118203947
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy
G 0.800 CausalMutation CLINVAR
dbSNP: rs118203948
rs118203948
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy
T 0.800 CausalMutation CLINVAR
dbSNP: rs118203950
rs118203950
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy
G 0.800 CausalMutation CLINVAR
dbSNP: rs587777893
rs587777893
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR
A 0.800 CausalMutation CLINVAR
dbSNP: rs587777894
rs587777894
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR
T 0.800 CausalMutation CLINVAR
dbSNP: rs587777894
rs587777894
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR
A 0.800 CausalMutation CLINVAR
dbSNP: rs869312666
rs869312666
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME
C 0.800 CausalMutation CLINVAR
dbSNP: rs869312671
rs869312671
Entrez Id: 2475;100873935
Gene Symbol: MTOR;MTOR-AS1
MTOR;MTOR-AS1
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME
T 0.800 CausalMutation CLINVAR
dbSNP: rs878855328
rs878855328
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME
T 0.800 CausalMutation CLINVAR
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: 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: C0017636
Disease:
Glioblastoma
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016