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: 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: 11154
Gene Symbol: AP4S1
AP4S1
adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 None 1.000 0 0 2015 2015
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
polynucleotide kinase 3'-phosphatase 0.553 0.692 3.7E-14
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 None 1.000 0 0 2010 2010
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 None 1.000 0 0 1999 2018
Entrez Id: 28514
Gene Symbol: DLL1
DLL1
delta like canonical Notch ligand 1 0.492 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 None 1.000 0 0 2018 2019
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
notch receptor 3 0.435 0.808 0.41
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 strong 1.000 0 0 2009 2018
Entrez Id: 54805
Gene Symbol: CNNM2
CNNM2
cyclin and CBS domain divalent metal cation transport mediator 2 0.641 0.346 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 None 1.000 0 0 2012 2014
Entrez Id: 5580
Gene Symbol: PRKCD
PRKCD
protein kinase C delta 0.480 0.846 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 None 1.000 0 0 2016 2017
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 None 1.000 0 0 2008 2009
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
cullin 4B 0.556 0.769 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 strong 1.000 0 1 2012 2018
Entrez Id: 8777
Gene Symbol: MPDZ
MPDZ
multiple PDZ domain crumbs cell polarity complex component 0.638 0.500 5.8E-38
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 None 1.000 0 0 2004 2009
Entrez Id: 93183
Gene Symbol: PIGM
PIGM
phosphatidylinositol glycan anchor biosynthesis class M 0.695 0.346 5.4E-05
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 None 1.000 0 0 2006 2007
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: 26235
Gene Symbol: FBXL4
FBXL4
F-box and leucine rich repeat protein 4 0.695 0.423 1.1E-08
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 1 2016 2017
Entrez Id: 26960
Gene Symbol: NBEA
NBEA
neurobeachin 0.760 0.538 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 2 2013 2018
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: 100131801
Gene Symbol: PET100
PET100
PET100 cytochrome c oxidase chaperone 0.650 0.577 3.6E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 0 0 2013 2013
Entrez Id: 10102
Gene Symbol: TSFM
TSFM
Ts translation elongation factor, mitochondrial 0.736 0.423 1.9E-09
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 0 0 2011 2011
Entrez Id: 10297
Gene Symbol: APC2
APC2
APC regulator of WNT signaling pathway 2 0.582 0.654 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 0 0 2012 2012
Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1
solute carrier family 35 member A1 0.601 0.654 0.68
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 0 0 2017 2017
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: 128637
Gene Symbol: TBC1D20
TBC1D20
TBC1 domain family member 20 0.621 0.500 0.93
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 0 0 2013 2013
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 0 0 1991 1991
Entrez Id: 1629
Gene Symbol: DBT
DBT
dihydrolipoamide branched chain transacylase E2 0.638 0.462 1.0E-05
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 0 0 2019 2019
Entrez Id: 1725
Gene Symbol: DHPS
DHPS
deoxyhypusine synthase 0.670 0.538 1.6E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 0 0 2012 2012