MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 960; N. variants: 48
Disease: Delayed ability to stand ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4476709
Disease: Delayed ability to stand
Delayed ability to stand 		0.100 CausalMutation phenotype CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016