Source: CLINVAR

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: 6324
Gene Symbol: SCN1B
SCN1B
sodium voltage-gated channel beta subunit 1 0.575 0.538 0.10
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.130 None 0.950 17 1 1998 2016
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
cholinergic receptor nicotinic alpha 4 subunit 0.492 0.808 8.5E-05
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.440 None 1.000 9 1 1999 2019
Entrez Id: 4576
Gene Symbol: TRNT
TRNT
tRNA 0.729 0.538
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 4 1 1993 2018
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
chromodomain helicase DNA binding protein 8 0.656 0.577 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 4 1 2012 2020
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
platelet activating factor acetylhydrolase 1b regulatory subunit 1 0.504 0.769 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 3 1 1999 2003
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 None 0.857 3 1 2006 2019
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
potassium sodium-activated channel subfamily T member 1 0.610 0.308 2.8E-05
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 None 1.000 3 1 2015 2019
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
spectrin alpha, non-erythrocytic 1 0.601 0.615 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 None 1.000 2 1 2012 2017
Entrez Id: 23065
Gene Symbol: EMC1
EMC1
ER membrane protein complex subunit 1 0.700 0.462 6.7E-26
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 2 1 2016 2017
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 2 1 2013 2014
Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1
EMC1 antisense RNA 1 0.792 0.385
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 2 1 2016 2017
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
CLN5 intracellular trafficking protein 0.705 0.269 1.7E-08
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 1 2010 2010
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 1 2019 2019
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 1 1 2016 2017
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
ALG13 UDP-N-acetylglucosaminyltransferase subunit 0.631 0.577 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 1 2013 2013
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8417
Gene Symbol: STX7
STX7
syntaxin 7 0.821 0.231 5.0E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2257
Gene Symbol: FGF12
FGF12
fibroblast growth factor 12 0.619 0.615 0.62
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
enoyl-CoA hydratase, short chain 1 0.601 0.654 8.8E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
F-box and leucine rich repeat protein 4 0.695 0.423 1.1E-08
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 1 1 2016 2017
Entrez Id: 54082
Gene Symbol: TSPEAR-AS1
TSPEAR-AS1
TSPEAR antisense RNA 1 0.821 0.269
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3
F-box and leucine rich repeat protein 3 0.736 0.462 0.98
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 1 2010 2010
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
sodium leak channel, non-selective 0.587 0.615 8.5E-14
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 1 2016 2016