Source: ALL

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 8 8 2015 2018
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		TSC complex subunit 1 0.440 0.808 1.00
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		disease 0.710 None 1.000 2 6 2002 2017
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		TSC complex subunit 2 0.439 0.808 1.00
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		disease 0.700 None 1.000 3 10 2009 2017
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma 0.320 0.885 1.4E-06
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		disease 0.020 None 1.000 2 0 2015 2019
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		disease 0.020 None 1.000 2 1 2015 2019
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta 0.322 0.885 1.00
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		disease 0.020 None 1.000 2 0 2015 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		disease 0.020 None 1.000 2 0 2015 2019
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1 		single-strand-selective monofunctional uracil-DNA glycosylase 1 0.322 0.923 4.5E-04
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		disease 0.020 None 1.000 2 0 2018 2018
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		disease 0.020 None 1.000 2 1 2015 2019
Entrez Id: 3146
Gene Symbol: HMGB1
HMGB1 		high mobility group box 1 0.368 0.923 0.82
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 301
Gene Symbol: ANXA1
ANXA1 		annexin A1 0.442 0.885 1.2E-07
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6009
Gene Symbol: RHEB
RHEB 		Ras homolog, mTORC1 binding 0.631 0.577 0.98
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		disease 0.010 None 1.000 1 1 2019 2019
Entrez Id: 7099
Gene Symbol: TLR4
TLR4 		toll like receptor 4 0.321 0.962 4.6E-09
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2 		FA complementation group D2 0.479 0.885 1.1E-30
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		disease 0.010 None 1.000 1 0 2010 2010