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: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		disease 0.200 None 1.000 25 8 2015 2020
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		disease 0.080 None 1.000 8 0 2015 2019
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		disease 0.070 None 1.000 7 1 2015 2019
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma 0.320 0.885 1.4E-06
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		disease 0.070 None 1.000 7 0 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: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		disease 0.070 None 1.000 7 0 2015 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6401
Gene Symbol: SELE
SELE 		selectin E 0.447 0.808 7.9E-10
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6403
Gene Symbol: SELP
SELP 		selectin P 0.460 0.769 5.0E-32
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7056
Gene Symbol: THBD
THBD 		thrombomodulin 0.457 0.769 5.4E-02
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		TSC complex subunit 2 0.439 0.808 1.00
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		disease 0.010 None 1.000 1 0 2018 2018