Source: CURATED

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: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		disease 0.500 limited 1.000 1 1 2009 2019
Entrez Id: 10000
Gene Symbol: AKT3
AKT3 		AKT serine/threonine kinase 3 0.512 0.808 1.00
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		disease 0.460 None 1.000 1 0 2012 2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		disease 0.450 None 1.000 1 1 2012 2018
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		disease 0.400 limited 0 0
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		disease 0.400 limited 0 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		disease 0.400 limited 0 0