MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 960; N. variants: 48
Disease: Epileptic encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.300 Biomarker disease GENOMICS_ENGLAND mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. 28892148 2018