Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.740 GeneticVariation disease UNIPROT Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. 27830187 2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.740 Biomarker disease GENOMICS_ENGLAND Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.740 GeneticVariation disease UNIPROT Deep sequencing of the MTOR gene in an additional 73 subjects with FCDII using hybrid capture and PCR amplicon sequencing identified eight different somatic missense mutations found in multiple brain tissue samples of ten subjects. 25799227 2015
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.740 GeneticVariation disease UNIPROT Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. 25878179 2015
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.740 GeneticVariation disease UNIPROT Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. 26018084 2015
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.740 Biomarker disease GENOMICS_ENGLAND Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. 25878179 2015
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.740 Biomarker disease CTD_human