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: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.010 None 1.000 1 1 2011 2011
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.100 None 0 1
Entrez Id: 5443
Gene Symbol: POMC
POMC
proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.330 None 1.000 23 0 1980 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 1392
Gene Symbol: CRH
CRH
corticotropin releasing hormone 0.439 0.808 0.72
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.310 None 1.000 2 0 2001 2017
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.300 None 1.000 1 0 2008 2008
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.440 0.808 1.00
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.400 None 1.000 1 0 2008 2008
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
proline rich transmembrane protein 2 0.448 0.808 0.58
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.100 None 0 0
Entrez Id: 7430
Gene Symbol: EZR
EZR
ezrin 0.476 0.808 0.18
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.100 None 0 0
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
phosphoglycerate dehydrogenase 0.484 0.885 1.3E-04
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.100 None 0 0
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
SET binding protein 1 0.503 0.808 1.00
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.100 None 0 0
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.100 None 0 0
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.100 None 0 1
Entrez Id: 1394
Gene Symbol: CRHR1
CRHR1
corticotropin releasing hormone receptor 1 0.517 0.769 3.8E-05
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A 0.522 0.808 1.00
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.100 None 0 0
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
solute carrier family 35 member A2 0.525 0.808 0.72
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0.527 0.769 1.00
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.100 None 0 0
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.110 None 1.000 1 0 2010 2010
Entrez Id: 10765
Gene Symbol: KDM5B
KDM5B
lysine demethylase 5B 0.532 0.731 7.9E-15
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.100 None 0 0
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.100 None 0 0
Entrez Id: 8573
Gene Symbol: CASK
CASK
calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease 0.010 None 1.000 1 0 2015 2015