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: 57215
Gene Symbol: THAP11
THAP11
THAP domain containing 11 0.769 0.346 0.83
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
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: 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: 10716
Gene Symbol: TBR1
TBR1
T-box brain transcription factor 1 0.666 0.385 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
adaptor related protein complex 4 subunit epsilon 1 0.656 0.385 2.8E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
glutaryl-CoA dehydrogenase 0.691 0.385 4.9E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 27292
Gene Symbol: DIMT1
DIMT1
DIMT1 rRNA methyltransferase and ribosome maturation factor 0.760 0.385 3.9E-07
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 29781
Gene Symbol: NCAPH2
NCAPH2
non-SMC condensin II complex subunit H2 0.805 0.385 2.9E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 50801
Gene Symbol: KCNK4
KCNK4
potassium two pore domain channel subfamily K member 4 0.743 0.385 5.7E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 None 1.000 0 2 2018 2018
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
WD repeat domain 45 0.647 0.423 0.99
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 None 1.000 3 2 2012 2018
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: 154881
Gene Symbol: KCTD7
KCTD7
potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 2 2018 2018
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292
zinc finger protein 292 0.695 0.423 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 moderate 1.000 0 1 2018 2018
Entrez Id: 23334
Gene Symbol: SZT2
SZT2
SZT2 subunit of KICSTOR complex 0.670 0.423 2.3E-14
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.170 None 1.000 0 2 2013 2019
Entrez Id: 2900
Gene Symbol: GRIK4
GRIK4
glutamate ionotropic receptor kainate type subunit 4 0.678 0.423 0.11
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 2
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 0.656 0.423 1.6E-08
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
lysine methyltransferase 5B 0.736 0.423 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1
glutamine rich 1 0.716 0.423 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 9570
Gene Symbol: GOSR2
GOSR2
golgi SNAP receptor complex member 2 0.653 0.423 4.7E-07
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 1 2019 2019
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: 3745
Gene Symbol: KCNB1
KCNB1
potassium voltage-gated channel subfamily B member 1 0.650 0.462 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 2 2 2017 2017
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: 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: 23040
Gene Symbol: MYT1L
MYT1L
myelin transcription factor 1 like 0.659 0.462 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1
Entrez Id: 23552
Gene Symbol: CDK20
CDK20
cyclin dependent kinase 20 0.682 0.462 5.9E-14
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 1