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: 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: 1384
Gene Symbol: CRAT
CRAT
carnitine O-acetyltransferase 0.656 0.577 9.5E-12
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 2 2020 2020
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.200 None 0.957 0 3 2012 2020
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
contactin associated protein 2 0.530 0.846 2.9E-09
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.200 None 1.000 0 0 2008 2020
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
laminin subunit alpha 2 0.553 0.692 2.4E-47
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 1 2020 2020
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.440 strong 1.000 0 0 1998 2020
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 None 0.952 0 0 1997 2020
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.200 None 0.932 0 15 2002 2020
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.150 None 1.000 0 0 2005 2020
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.130 None 1.000 0 0 2019 2020
Entrez Id: 84504
Gene Symbol: NKX6-2
NKX6-2
NK6 homeobox 2 0.695 0.500 2.9E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 0 2020 2020
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: 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: 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: 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: 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: 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: 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: 51412
Gene Symbol: ACTL6B
ACTL6B
actin like 6B 0.656 0.462 2.8E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 1 2019 2019
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: 10641
Gene Symbol: NPRL2
NPRL2
NPR2 like, GATOR1 complex subunit 0.644 0.462 0.39
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 None 1.000 0 0 2016 2019
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
choline O-acetyltransferase 0.520 0.808 5.6E-11
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 None 1.000 0 0 2010 2019
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
proline rich transmembrane protein 2 0.448 0.808 0.58
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.200 None 1.000 0 0 1999 2019