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: 51227
Gene Symbol: PIGP
PIGP
phosphatidylinositol glycan anchor biosynthesis class P 0.633 0.462 1.9E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 1 0 2019 2019
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 None 1.000 1 0 2020 2020
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: 51780
Gene Symbol: KDM3B
KDM3B
lysine demethylase 3B 0.686 0.500 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 51807
Gene Symbol: TUBA8
TUBA8
tubulin alpha 8 0.691 0.385 3.6E-05
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 1 0 2017 2017
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: 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: 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: 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: 8943
Gene Symbol: AP3D1
AP3D1
adaptor related protein complex 3 subunit delta 1 0.678 0.385 0.99
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 91801
Gene Symbol: ALKBH8
ALKBH8
alkB homolog 8, tRNA methyltransferase 0.716 0.423 2.0E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 None 1.000 1 0 2019 2019
Entrez Id: 9330
Gene Symbol: GTF3C3
GTF3C3
general transcription factor IIIC subunit 3 1.000 7.0E-07
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 moderate 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 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: 9526
Gene Symbol: MPDU1
MPDU1
mannose-P-dolichol utilization defect 1 0.682 0.500 1.0E-05
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2001 2001
Entrez Id: 84148
Gene Symbol: KAT8
KAT8
lysine acetyltransferase 8 0.592 0.654 0.22
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.310 None 1.000 1 0 2018 2020
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: 8884
Gene Symbol: SLC5A6
SLC5A6
solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 None 1.000 1 0 2018 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