MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 960; N. variants: 48
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs587777895
rs587777895
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