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: 427
Gene Symbol: ASAH1
ASAH1
N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
chromodomain helicase DNA binding protein 2 0.585 0.577 1.00
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 3 2018 2018
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
contactin associated protein 2 0.530 0.846 2.9E-09
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 2 2018 2018
Entrez Id: 57094
Gene Symbol: CPA6
CPA6
carboxypeptidase A6 0.716 0.346 4.4E-17
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 2 2018 2018
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
cystatin B 0.530 0.692 6.6E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 9681
Gene Symbol: DEPDC5
DEPDC5
DEP domain containing 5, GATOR1 subcomplex subunit 0.631 0.538 0.12
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 5 2018 2018
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
EPM2A glucan phosphatase, laforin 0.608 0.577 8.7E-06
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
glutamate ionotropic receptor NMDA type subunit 1 0.561 0.692 0.98
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 51124
Gene Symbol: IER3IP1
IER3IP1
immediate early response 3 interacting protein 1 0.711 0.423 2.3E-02
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 3786
Gene Symbol: KCNQ3
KCNQ3
potassium voltage-gated channel subfamily Q member 3 0.604 0.462 0.80
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.120 None 1.000 1 3 2008 2018
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
potassium sodium-activated channel subfamily T member 1 0.610 0.308 2.8E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
protocadherin 19 0.599 0.462 1.00
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1
phospholipase C beta 1 0.595 0.654 0.98
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 166336
Gene Symbol: PRICKLE2
PRICKLE2
prickle planar cell polarity protein 2 0.711 0.423 1.00
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 54715
Gene Symbol: RBFOX1
RBFOX1
RNA binding fox-1 homolog 1 0.584 0.692 0.95
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.110 None 1.000 1 3 2013 2018
Entrez Id: 146713
Gene Symbol: RBFOX3
RBFOX3
RNA binding fox-1 homolog 3 0.751 0.192 1.00
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.110 None 1.000 1 1 2013 2018
Entrez Id: 5649
Gene Symbol: RELN
RELN
reelin 0.515 0.731 1.00
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 5 2018 2018
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
scavenger receptor class B member 2 0.606 0.615 8.9E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.110 None 1.000 1 2 2009 2018
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
SCN1A and SCN9A antisense RNA 1 0.636 0.346
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 4 2018 2018
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
sodium voltage-gated channel beta subunit 1 0.575 0.538 0.10
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 2 2018 2018
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.110 None 1.000 1 2 2018 2019
Entrez Id: 102724428
Gene Symbol: SIK1B
SIK1B
salt inducible kinase 1B (putative) 0.653 0.385
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease 0.100 None 1.000 1 1 2018 2018