Source: CLINVAR

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: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 0 1 2007 2007
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
phosphoglycerate dehydrogenase 0.484 0.885 1.3E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 2 2000 2000
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.200 None 0.900 0 2 1997 2019
Entrez Id: 2690
Gene Symbol: GHR
GHR
growth hormone receptor 0.490 0.846 8.4E-05
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
frizzled class receptor 4 0.490 0.923 0.97
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
cholinergic receptor nicotinic alpha 4 subunit 0.492 0.808 8.5E-05
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.440 None 1.000 9 1 1999 2019
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 None 1.000 0 1 2012 2012
Entrez Id: 6664
Gene Symbol: SOX11
SOX11
SRY-box transcription factor 11 0.494 0.808 0.86
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 2 2 2012 2015
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
SATB homeobox 2 0.503 0.769 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 1 2018 2018
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
platelet activating factor acetylhydrolase 1b regulatory subunit 1 0.504 0.769 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 3 1 1999 2003
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 1 2014 2014
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.420 strong 1.000 0 1 2015 2019
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.150 None 1.000 0 2 2014 2017
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.200 None 1.000 0 2 2007 2019
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 1 2013 2013
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
solute carrier family 9 member A6 0.516 0.846 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 None 1.000 0 2 2011 2014
Entrez Id: 170302
Gene Symbol: ARX
ARX
aristaless related homeobox 0.516 0.654 0.91
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.150 None 0.800 0 1 2007 2017
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
three prime repair exonuclease 1 0.517 0.808 0.58
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 2 2008 2016
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
myocyte enhancer factor 2C 0.517 0.769 1.7E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 None 1.000 1 3 2010 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.200 None 0.944 0 4 2004 2019
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1