Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.300 Biomarker GENOMICS_ENGLAND mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. 28892148

2018