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: 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: 54936
Gene Symbol: ADPRS
ADPRS
ADP-ribosylserine hydrolase 0.743 0.308 5.8E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 moderate 1.000 1 0 2018 2018
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: 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: 1173
Gene Symbol: AP2M1
AP2M1
adaptor related protein complex 2 subunit mu 1 0.751 0.231 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 2019 2019
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: 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: 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 1 0 2012 2012
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: 1822
Gene Symbol: ATN1
ATN1
atrophin 1 0.409 0.885 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 0 2019 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: 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: 777
Gene Symbol: CACNA1E
CACNA1E
calcium voltage-gated channel subunit alpha1 E 0.650 0.577 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 1024
Gene Symbol: CDK8
CDK8
cyclin dependent kinase 8 0.597 0.654 0.41
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 0 2019 2019
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: 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 1 0 2007 2007
Entrez Id: 1457
Gene Symbol: CSNK2A1
CSNK2A1
casein kinase 2 alpha 1 0.597 0.731 0.99
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.310 limited 1.000 1 0 2016 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: 23316
Gene Symbol: CUX2
CUX2
cut like homeobox 2 0.644 0.500 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 strong 1.000 1 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 1 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 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: 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 1 0 2012 2012
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: 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