Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker GENOMICS_ENGLAND Finally, a constitutional de novo mutation of MTOR (p.Glu1799Lys) was identified in 3 unrelated children with diffuse megalencephaly and intellectual disability. 27159400

2016