MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 960; N. variants: 48
Disease: SMITH-KINGSMORE SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369088781
rs369088781
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME 		0.700 GeneticVariation UNIPROT Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. 27830187 2016
dbSNP: rs369088781
rs369088781
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME 		0.700 GeneticVariation UNIPROT A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. 25851998 2015
dbSNP: rs369088781
rs369088781
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4225259
Disease:
SMITH-KINGSMORE SYNDROME 		0.700 GeneticVariation UNIPROT Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. 26542245 2015