Source: INFERRED

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: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.430 None 1.000 76 11 2001 2019
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 None 1.000 23 16 1984 2019
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
sodium voltage-gated channel beta subunit 1 0.575 0.538 0.10
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.130 None 0.950 17 1 1998 2016
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: 501
Gene Symbol: ALDH7A1
ALDH7A1
aldehyde dehydrogenase 7 family member A1 0.551 0.769 1.4E-22
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 None 1.000 8 6 2006 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 None 0.923 6 6 2000 2019
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 5 11 1992 2014
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.130 None 1.000 4 10 1998 2013
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 4 3 2009 2019
Entrez Id: 4576
Gene Symbol: TRNT
TRNT
tRNA 0.729 0.538
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 4 1 1993 2018
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
chromodomain helicase DNA binding protein 8 0.656 0.577 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 4 1 2012 2020
Entrez Id: 9681
Gene Symbol: DEPDC5
DEPDC5
DEP domain containing 5, GATOR1 subcomplex subunit 0.631 0.538 0.12
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.150 None 1.000 4 4 2013 2020
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
WD repeat domain 45 0.647 0.423 0.99
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 None 1.000 3 2 2012 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: 57582
Gene Symbol: KCNT1
KCNT1
potassium sodium-activated channel subfamily T member 1 0.610 0.308 2.8E-05
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 None 1.000 3 1 2015 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.700 strong 1.000 3 4 1998 2018
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 None 0.857 3 1 2006 2019
Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1
EMC1 antisense RNA 1 0.792 0.385
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 2 1 2016 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 2 4 2017 2017
Entrez Id: 23065
Gene Symbol: EMC1
EMC1
ER membrane protein complex subunit 1 0.700 0.462 6.7E-26
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 2 1 2016 2017
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 2 1 2013 2014
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
potassium voltage-gated channel subfamily B member 1 0.650 0.462 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 2 2 2017 2017
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
CLN6 transmembrane ER protein 0.670 0.231 1.0E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 2 2 2002 2008
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.180 None 1.000 2 8 2014 2019
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