Source: ORPHANET

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: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease 0.500 None 0.967 2 0 2004 2019
Entrez Id: 170302
Gene Symbol: ARX
ARX
aristaless related homeobox 0.516 0.654 0.91
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease 0.500 None 1.000 1 0 2002 2019
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease 0.490 None 1.000 2 0 2010 2019
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
spectrin alpha, non-erythrocytic 1 0.601 0.615 1.00
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease 0.460 None 1.000 2 0 2008 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease 0.460 None 1.000 1 0 2013 2019
Entrez Id: 6487
Gene Symbol: ST3GAL3
ST3GAL3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 0.606 0.654 2.6E-03
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease 0.420 None 1.000 1 0 2013 2018
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease 0.420 None 1.000 1 0 2014 2017
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1
phospholipase C beta 1 0.595 0.654 0.98
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease 0.410 None 1.000 2 0 2010 2012
Entrez Id: 10695
Gene Symbol: CNPY3
CNPY3
canopy FGF signaling regulator 3 0.805 0.269 0.40
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease 0.410 None 1.000 1 0 2018 2018
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
phosphatase and actin regulator 1 0.663 0.423 0.64
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease 0.410 None 1.000 1 0 2018 2018
Entrez Id: 150094
Gene Symbol: SIK1
SIK1
salt inducible kinase 1 0.544 0.731 0.94
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease 0.410 None 1.000 1 0 2015 2015
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
phosphatidylinositol glycan anchor biosynthesis class A 0.575 0.654 0.96
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease 0.400 None 1.000 1 0 2014 2014
Entrez Id: 60558
Gene Symbol: GUF1
GUF1
GUF1 homolog, GTPase 0.805 0.154 5.3E-18
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease 0.400 None 1.000 1 0 2016 2016
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
neurotrophic receptor tyrosine kinase 2 0.479 0.808 1.00
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease 0.400 None 1.000 1 0 2017 2017
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
WD repeat domain 45 0.647 0.423 0.99
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease 0.320 None 1.000 1 0 2016 2017