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: 3073
Gene Symbol: HEXA
HEXA
hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 5 11 1992 2014
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: 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: 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: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 2 4 2017 2017
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 2 2 2012 2015
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: 547
Gene Symbol: KIF1A
KIF1A
kinesin family member 1A 0.559 0.692 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 2 2016 2016
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: 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: 128989
Gene Symbol: TANGO2
TANGO2
transport and golgi organization 2 homolog 0.666 0.615 1.5E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
ferric chelate reductase 1 like 0.666 0.231 1.5E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 4 2016 2016
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP
ATR interacting protein 0.666 0.692 2.0E-05
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 2 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: 1384
Gene Symbol: CRAT
CRAT
carnitine O-acetyltransferase 0.656 0.577 9.5E-12
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 2 2020 2020
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
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: 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: 54084
Gene Symbol: TSPEAR
TSPEAR
thrombospondin type laminin G domain and EAR repeats 0.736 0.385 2.4E-17
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 2 2017 2017
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: 815
Gene Symbol: CAMK2A
CAMK2A
calcium/calmodulin dependent protein kinase II alpha 0.612 0.538 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 2 2017 2017
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: 339400
Gene Symbol: FLG-AS1
FLG-AS1
FLG antisense RNA 1 0.700 0.538
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 2 2006 2006
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