Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		disease 0.740 strong 1.000 2 0 2015 2018
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		disease 0.720 strong 1.000 3 0 2015 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		disease 0.500 limited 1.000 1 0 2009 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.470 strong 1.000 1 0 2015 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C4479673
Disease: FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC
FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC 		disease 0.300 strong 0 0