MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 960; N. variants: 48
Disease: Macrocephaly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225264
rs863225264
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0221355
Disease:
Macrocephaly 		0.020 GeneticVariation BEFREE Finally, a constitutional de novo mutation of MTOR (p.Glu1799Lys) was identified in 3 unrelated children with diffuse megalencephaly and intellectual disability. 27159400 2016
dbSNP: rs863225264
rs863225264
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0221355
Disease:
Macrocephaly 		0.020 GeneticVariation BEFREE Thus, MTOR p.E1799K can now be classified as a pathogenic GOF mutation that causes megalencephaly</span> and cognitive impairment in humans. 26542245 2015