Source: INFERRED

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: 1137
Gene Symbol: CHRNA4
CHRNA4
cholinergic receptor nicotinic alpha 4 subunit 0.492 0.808 8.5E-05
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.420 None 1.000 0 0 2000 2005
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.400 None 1.000 0 0 2010 2010
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.400 strong 1.000 0 0 2013 2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.160 None 1.000 0 0 2007 2017
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
potassium sodium-activated channel subfamily T member 1 0.610 0.308 2.8E-05
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.140 None 1.000 0 0 2012 2019
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
protocadherin 19 0.599 0.462 1.00
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.130 None 1.000 0 0 2012 2018
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.120 None 1.000 0 0 2013 2016
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
proline rich transmembrane protein 2 0.448 0.808 0.58
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.110 None 1.000 0 0 2016 2016
Entrez Id: 4576
Gene Symbol: TRNT
TRNT
tRNA 0.729 0.538
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.100 None 1.000 4 1 1993 2018
Entrez Id: 51067
Gene Symbol: YARS2
YARS2
tyrosyl-tRNA synthetase 2 0.663 0.462 3.0E-11
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.100 None 1.000 2 1 2016 2016
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.100 None 1.000 2 1 2016 2016
Entrez Id: 55180
Gene Symbol: LINS1
LINS1
lines homolog 1 0.691 0.231 2.4E-07
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.100 None 0 0
Entrez Id: 6301
Gene Symbol: SARS1
SARS1
seryl-tRNA synthetase 1 0.558 0.769 1.00
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.100 None 0 0
Entrez Id: 6249
Gene Symbol: CLIP1
CLIP1
CAP-Gly domain containing linker protein 1 0.617 0.654 0.68
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.100 None 0 0
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.100 None 0 0
Entrez Id: 5279
Gene Symbol: PIGC
PIGC
phosphatidylinositol glycan anchor biosynthesis class C 0.691 0.346 5.5E-03
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.100 None 0 0
Entrez Id: 54862
Gene Symbol: CC2D1A
CC2D1A
coiled-coil and C2 domain containing 1A 0.628 0.462 8.5E-03
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.100 None 0 0
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2
NOP2/Sun RNA methyltransferase 2 0.559 0.846 2.6E-04
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.100 None 0 0
Entrez Id: 57102
Gene Symbol: C12orf4
C12orf4
chromosome 12 open reading frame 4 0.691 0.308 1.1E-05
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.100 None 0 0
Entrez Id: 57094
Gene Symbol: CPA6
CPA6
carboxypeptidase A6 0.716 0.346 4.4E-17
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.100 None 0 2
Entrez Id: 56776
Gene Symbol: FMN2
FMN2
formin 2 0.610 0.538 1.00
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.100 None 0 0
Entrez Id: 5602
Gene Symbol: MAPK10
MAPK10
mitogen-activated protein kinase 10 0.606 0.692 0.28
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD
ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.100 None 0 0
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase 0.610 0.808 3.6E-19
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.100 None 0 3
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.100 None 0 0