MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 960; N. variants: 48
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225264
rs863225264
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME 		0.810 GeneticVariation BEFREE Remarkably, in all reported families with Smith-Kingsmore syndrome and the MTOR c.5395G>A mutation, including the family described herein, healthy parents of recurrently affected children do not have detectable levels of the mutation in tested tissues, lending credence to gonadal mosaicism as the underlying mechanism. 27753196 2017
dbSNP: rs1085307113
rs1085307113
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.810 GeneticVariation BEFREE Here, we used deep whole-exome sequencing (read depth, 412-668×) validated by site-specific amplicon sequencing (100-347,499×) in paired brain-blood DNA from four subjects with FCDII and uncovered a de novo brain somatic mutation, mechanistic target of rapamycin (MTOR) c.7280T>C (p.Leu2427Pro) in two subjects. 25799227 2015
dbSNP: rs118203951
rs118203951
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy 		0.810 GeneticVariation BEFREE Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy. 19429578 2009
dbSNP: rs118203946
rs118203946
Entrez Id: 2475;29914
Gene Symbol: MTOR;UBIAD1
MTOR;UBIAD1
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy 		0.810 GeneticVariation BEFREE In four families with DNA samples from both affected and unaffected individuals, the D118G, G186R, T175I, and G177R mutations cosegregated with SCCD. 18176953 2008
dbSNP: rs1085307113
rs1085307113
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.810 GeneticVariation UNIPROT
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: 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 		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: 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 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: 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: 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: 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: 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