Source: GENOMICS_ENGLAND

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: 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 1 0 1998 2018
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.610 strong 1.000 1 0 2016 2019
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
guanidinoacetate N-methyltransferase 0.691 0.269 9.5E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.600 strong 1.000 1 0 2005 2014
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 strong 1.000 1 0 2009 2019
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.460 strong 1.000 1 0 2006 2019
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 1 0 1998 2020
Entrez Id: 2752
Gene Symbol: GLUL
GLUL
glutamate-ammonia ligase 0.513 0.731 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.430 strong 1.000 1 0 2001 2019
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 1 0 2015 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: 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: 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: 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 0 2015 2016
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 0 2012 2018
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 0 2017 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: 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: 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 1 0 2013 2013
Entrez Id: 3899
Gene Symbol: AFF3
AFF3
AF4/FMR2 family member 3 0.623 0.692 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 None 1.000 1 0 2008 2008
Entrez Id: 81570
Gene Symbol: CLPB
CLPB
caseinolytic mitochondrial matrix peptidase chaperone subunit B 0.631 0.654 5.0E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 1 0 2015 2015
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8
tripartite motif containing 8 0.588 0.731 0.99
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2013 2013
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: 8818
Gene Symbol: DPM2
DPM2
dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 1 0 2016 2016
Entrez Id: 2760
Gene Symbol: GM2A
GM2A
GM2 ganglioside activator 0.678 0.692 3.1E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2015 2015
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
N-sulfoglucosamine sulfohydrolase 0.638 0.692 1.0E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2018 2018