MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 960; N. variants: 48
Disease: Extra-axial cerebrospinal fluid accumulation ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777893
rs587777893
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C4022871
Disease:
Extra-axial cerebrospinal fluid accumulation 		A 0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016