Source: BEFREE

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: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		disease 0.730 strong 1.000 3 2 2015 2019
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta 0.322 0.885 1.00
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		disease 0.010 None 1.000 1 0 2019 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: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		disease 0.010 None 1.000 1 0 2019 2019