Source: HPO

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 0 0 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 0 0 2012 2017
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
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: 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: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		disease 0.130 None 1.000 0 0 2014 2018
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		TSC complex subunit 1 0.440 0.808 1.00
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		disease 0.130 None 1.000 0 0 2004 2015
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		TSC complex subunit 2 0.439 0.808 1.00
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		disease 0.130 None 1.000 0 0 2007 2019
Entrez Id: 9681
Gene Symbol: DEPDC5
DEPDC5 		DEP domain containing 5, GATOR1 subcomplex subunit 0.631 0.538 0.12
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		disease 0.130 None 1.000 0 0 2015 2019
Entrez Id: 3458
Gene Symbol: IFNG
IFNG 		interferon gamma 0.288 0.962 0.47
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		disease 0.100 None 0 0