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: 27286
Gene Symbol: SRPX2
SRPX2
sushi repeat containing protein X-linked 2 0.621 0.462 4.8E-02
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome
disease 0.530 limited 1.000 3 1 2006 2010
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome
disease 0.020 None 1.000 2 0 2015 2019
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2
phosphoinositide-3-kinase regulatory subunit 2 0.551 0.808 1.6E-02
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome
disease 0.020 None 1.000 2 3 2015 2016
Entrez Id: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian 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: C1845668
Disease: Perisylvian syndrome
Perisylvian 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: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome
disease 0.010 None 1.000 1 1 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: C1845668
Disease: Perisylvian syndrome
Perisylvian 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: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4168
Gene Symbol: MCF2
MCF2
MCF.2 cell line derived transforming sequence 0.760 0.385 0.97
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 23299
Gene Symbol: BICD2
BICD2
BICD cargo adaptor 2 0.615 0.731 0.98
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2
forkhead box P2 0.545 0.808 1.00
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome
disease 0.010 None 1.000 1 0 2010 2010