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: rs1085307113
rs1085307113
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR
0.810 GeneticVariation UNIPROT
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: rs118203946
rs118203946
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy
0.810 GeneticVariation UNIPROT
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: rs118203951
rs118203951
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy
0.810 GeneticVariation UNIPROT
dbSNP: rs863225264
rs863225264
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME
0.810 GeneticVariation UNIPROT
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: rs1057519779
rs1057519779
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR
0.800 GeneticVariation UNIPROT
dbSNP: rs1085307114
rs1085307114
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR
0.800 GeneticVariation UNIPROT
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: rs118203945
rs118203945
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy
0.800 GeneticVariation UNIPROT
dbSNP: rs118203947
rs118203947
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy
0.800 GeneticVariation UNIPROT
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
0.800 GeneticVariation UNIPROT
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: rs118203950
rs118203950
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy
0.800 GeneticVariation UNIPROT
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