Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		P09471 G protein subunit alpha o1 Enzyme modulator 20 0.523 0.808 0.99 0.450 strong 1.000 0 1 2013 2017
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 57 0.489 0.769 1.00 0.430 moderate 1.000 1 3 2015 2018
Entrez Id: 1759
Gene Symbol: DNM1
DNM1 		Q05193 dynamin 1 Enzyme modulator 11 0.595 0.692 1.00 0.430 None 1.000 0 1 2014 2018
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		P14867 gamma-aminobutyric acid type A receptor subunit alpha1 Ion channel 12 0.563 0.577 0.91 0.410 moderate 1.000 0 1 2013 2019
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU 		Q00839 heterogeneous nuclear ribonucleoprotein U 7 0.575 0.654 1.00 0.400 None 1.000 1 4 2013 2017
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 59 0.584 0.577 1.00 0.400 None 1.000 0 1 2012 2012
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		P61764 syntaxin binding protein 1 Transporter 29 0.532 0.692 1.00 0.200 None 1.000 0 6 2011 2018
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 28 0.537 0.654 1.00 0.200 None 1.000 0 7 2003 2020
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 39 0.477 0.808 1.00 0.200 None 1.000 0 5 2011 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 83 0.510 0.731 1.00 0.200 None 1.000 0 5 2012 2019
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 37 0.522 0.692 1.00 0.200 None 0.966 0 5 2007 2019
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 40 0.518 0.731 1.00 0.180 None 1.000 0 9 2013 2019
Entrez Id: 51741
Gene Symbol: WWOX
WWOX 		Q9NZC7 WW domain containing oxidoreductase Enzyme 10 0.453 0.808 1.2E-15 0.170 None 1.000 0 2 2015 2019
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 7 0.546 0.615 0.95 0.150 None 1.000 0 2 2013 2019
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1 		Q14721 potassium voltage-gated channel subfamily B member 1 Ion channel 12 0.650 0.462 1.00 0.150 None 1.000 0 19 2014 2019
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		P78381 solute carrier family 35 member A2 Transporter 48 0.525 0.808 0.72 0.140 None 1.000 0 1 2013 2019
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1 		Q13813 spectrin alpha, non-erythrocytic 1 7 0.601 0.615 1.00 0.130 None 1.000 0 1 2015 2018
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		O60741 hyperpolarization activated cyclic nucleotide gated potassium channel 1 3 0.564 0.654 1.00 0.130 None 1.000 0 2 2014 2018
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		Q9NY47 calcium voltage-gated channel auxiliary subunit alpha2delta 2 Ion channel 3 0.626 0.615 1.00 0.120 None 0.500 0 1 2013 2019
Entrez Id: 1468
Gene Symbol: SLC25A10
SLC25A10 		Q9UBX3 solute carrier family 25 member 10 Transporter 4 0.666 0.500 5.9E-10 0.110 None 1.000 1 1 2018 2018
Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2 		Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 2 0.691 0.346 0.77 0.110 None 1.000 0 2 2016 2016
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA 		Q08209 protein phosphatase 3 catalytic subunit alpha 31 0.568 0.769 1.00 0.110 None 1.000 0 1 2019 2019
Entrez Id: 7407
Gene Symbol: VARS1
VARS1 		P26640 valyl-tRNA synthetase 1 5 0.711 0.500 1.8E-08 0.110 None 1.000 0 2 2019 2019
Entrez Id: 7358
Gene Symbol: UGDH
UGDH 		O60701 UDP-glucose 6-dehydrogenase 1 0.678 0.615 6.8E-04 0.100 None 1.000 1 1 2020 2020
Entrez Id: 8099
Gene Symbol: CDK2AP1
CDK2AP1 		O14519 cyclin dependent kinase 2 associated protein 1 Enzyme modulator 5 0.656 0.538 0.45 0.100 None 0 1