Source: CURATED

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: 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 1 0 2015 2015
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 1 0 2004 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 1 1 2012 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 1 0 2018 2019
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 1 0 2012 2014
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
G protein subunit beta 1 0.617 0.731 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 strong 1.000 1 8 2015 2016
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 1 0 2010 2010
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 1 0 2016 2017
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 1 0 2006 2007
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 1 0 2010 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 1 0 2009 2018
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 1 0 1999 2018
Entrez Id: 5443
Gene Symbol: POMC
POMC
proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 None 0.947 6 0 1982 2020
Entrez Id: 4852
Gene Symbol: NPY
NPY
neuropeptide Y 0.447 0.846 0.14
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 None 1.000 3 0 1998 2020
Entrez Id: 3630
Gene Symbol: INS
INS
insulin 0.445 0.923 0.30
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 None 1.000 2 0 1972 2003
Entrez Id: 80036
Gene Symbol: TRPM3
TRPM3
transient receptor potential cation channel subfamily M member 3 0.663 0.769 5.7E-07
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 2 1 2017 2019
Entrez Id: 23499
Gene Symbol: MACF1
MACF1
microtubule actin crosslinking factor 1 0.659 0.538 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 2 0 2006 2018
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
calcium voltage-gated channel subunit alpha1 B 0.650 0.577 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 2 0 2015 2019
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM
prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 2 0 2014 2019
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
interleukin 1 beta 0.276 0.962 0.13
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 None 0.962 1 0 2000 2019
Entrez Id: 3569
Gene Symbol: IL6
IL6
interleukin 6 0.248 0.962 0.32
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 None 1.000 1 0 2003 2019
Entrez Id: 8560
Gene Symbol: DEGS1
DEGS1
delta 4-desaturase, sphingolipid 1 0.621 0.731 0.14
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
TBC1 domain containing kinase 0.650 0.654 2.1E-15
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 1 2016 2016
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: 2731
Gene Symbol: GLDC
GLDC
glycine decarboxylase 0.628 0.577 6.6E-28
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2004 2004