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: 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: 54676
Gene Symbol: GTPBP2
GTPBP2
GTP binding protein 2 0.736 0.423 0.32
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
hexosaminidase subunit beta 0.644 0.654 3.5E-10
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 1995 1995
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 0 2019 2019
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: 476
Gene Symbol: ATP1A1
ATP1A1
ATPase Na+/K+ transporting subunit alpha 1 0.601 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.310 strong 1.000 1 0 2018 2020
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
alpha-N-acetylgalactosaminidase 0.647 0.538 1.8E-11
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 1996 1996
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: 55904
Gene Symbol: KMT2E
KMT2E
lysine methyltransferase 2E 0.682 0.423 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 5898
Gene Symbol: RALA
RALA
RAS like proto-oncogene A 0.656 0.577 0.97
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 6844
Gene Symbol: VAMP2
VAMP2
vesicle associated membrane protein 2 0.650 0.462 0.89
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
KIAA1109 0.603 0.654 3.3E-21
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 2019 2019
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: 84628
Gene Symbol: NTNG2
NTNG2
netrin G2 0.700 0.423 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 2019 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: 8665
Gene Symbol: EIF3F
EIF3F
eukaryotic translation initiation factor 3 subunit F 0.736 0.385 0.97
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 2018 2018
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 0 2016 2016
Entrez Id: 9488
Gene Symbol: PIGB
PIGB
phosphatidylinositol glycan anchor biosynthesis class B 0.839 0.038 3.9E-11
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 2019 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: 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: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2018 2018
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
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: 7701
Gene Symbol: ZNF142
ZNF142
zinc finger protein 142 0.861 0.192 4.8E-16
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 2019 2019