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: rs587777893
rs587777893
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.800 GeneticVariation UNIPROT Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. 27830187 2016
dbSNP: rs587777894
rs587777894
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.800 GeneticVariation UNIPROT Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. 27830187 2016
dbSNP: rs869312666
rs869312666
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME 		0.800 GeneticVariation UNIPROT Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. 27830187 2016
dbSNP: rs878855328
rs878855328
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME 		0.800 GeneticVariation UNIPROT Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. 27830187 2016
dbSNP: rs587777893
rs587777893
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.800 GeneticVariation UNIPROT Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. 25878179 2015
dbSNP: rs587777893
rs587777893
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.800 GeneticVariation UNIPROT Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. 26018084 2015
dbSNP: rs587777893
rs587777893
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.800 GeneticVariation UNIPROT Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. 25799227 2015
dbSNP: rs587777894
rs587777894
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.800 GeneticVariation UNIPROT Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. 25878179 2015
dbSNP: rs587777894
rs587777894
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.800 GeneticVariation UNIPROT Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. 25799227 2015
dbSNP: rs587777894
rs587777894
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.800 GeneticVariation UNIPROT Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. 26018084 2015
dbSNP: rs869312666
rs869312666
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME 		0.800 GeneticVariation UNIPROT Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. 26542245 2015
dbSNP: rs869312666
rs869312666
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME 		0.800 GeneticVariation UNIPROT A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. 25851998 2015
dbSNP: rs878855328
rs878855328
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME 		0.800 GeneticVariation UNIPROT A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. 25851998 2015
dbSNP: rs878855328
rs878855328
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME 		0.800 GeneticVariation UNIPROT Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. 26542245 2015
dbSNP: rs74225573
rs74225573
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0524957
Disease:
Corneal Topography 		C 0.800 GeneticVariation GWASCAT CMPK1 and RBP3 are associated with corneal curvature in Asian populations. 24963161 2014
dbSNP: rs74225573
rs74225573
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0524957
Disease:
Corneal Topography 		C 0.800 GeneticVariation GWASDB CMPK1 and RBP3 are associated with corneal curvature in Asian populations. 24963161 2014