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: 3786
Gene Symbol: KCNQ3
KCNQ3 		O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 10 0.604 0.462 0.80 0.120 None 1.000 1 3 2008 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 39 0.477 0.808 1.00 0.110 None 1.000 1 2 2009 2018
Entrez Id: 146713
Gene Symbol: RBFOX3
RBFOX3 		A6NFN3 RNA binding fox-1 homolog 3 Nucleic acid binding 1 0.751 0.192 1.00 0.110 None 1.000 1 1 2013 2018
Entrez Id: 54715
Gene Symbol: RBFOX1
RBFOX1 		Q9NWB1 RNA binding fox-1 homolog 1 Nucleic acid binding 1 0.584 0.692 0.95 0.110 None 1.000 1 3 2013 2018
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 13 0.543 0.615 4.8E-19 0.110 None 1.000 1 2 2018 2019
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		SCN1A and SCN9A antisense RNA 1 50 0.636 0.346 0.100 None 1.000 1 4 2018 2018
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		Q5JUK3 potassium sodium-activated channel subfamily T member 1 Ion channel 4 0.610 0.308 2.8E-05 0.100 None 1.000 1 1 2018 2018
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		Q07699 sodium voltage-gated channel beta subunit 1 Ion channel 10 0.575 0.538 0.10 0.100 None 1.000 1 1 2018 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 40 0.518 0.731 1.00 0.100 None 1.000 1 2 2018 2018
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		P11166 solute carrier family 2 member 1 Transporter 34 0.388 0.808 0.99 0.100 None 1.000 1 1 2018 2018
Entrez Id: 6529
Gene Symbol: SLC6A1
SLC6A1 		P30531 solute carrier family 6 member 1 Transporter 5 0.592 0.538 1.00 0.100 None 1.000 1 1 2018 2018
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1 		Q13813 spectrin alpha, non-erythrocytic 1 7 0.601 0.615 1.00 0.100 None 1.000 1 5 2018 2018
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A 		O95278 EPM2A glucan phosphatase, laforin 3 0.608 0.577 8.7E-06 0.100 None 1.000 1 1 2018 2018
Entrez Id: 79753
Gene Symbol: SNIP1
SNIP1 		Q8TAD8 Smad nuclear interacting protein 1 2 0.682 0.462 0.42 0.100 None 1.000 1 1 2018 2018
Entrez Id: 92335
Gene Symbol: STRADA
STRADA 		Q7RTN6 STE20 related adaptor alpha Kinase 2 0.711 0.462 4.5E-06 0.100 None 1.000 1 3 2018 2018
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		Q14108 scavenger receptor class B member 2 Receptor 5 0.606 0.615 8.9E-05 0.100 None 1.000 1 1 2018 2018
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		Q8TAB3 protocadherin 19 15 0.599 0.462 1.00 0.100 None 1.000 1 1 2018 2018
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		Q9ULP9 TBC1 domain family member 24 Enzyme modulator 22 0.530 0.808 1.3E-08 0.100 None 1.000 1 1 2018 2018
Entrez Id: 102724428
Gene Symbol: SIK1B
SIK1B 		A0A0B4J2F2 P57059 salt inducible kinase 1B (putative) 1 0.653 0.385 0.100 None 1.000 1 1 2018 2018
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		O14647 chromodomain helicase DNA binding protein 2 8 0.585 0.577 1.00 0.100 None 1.000 1 3 2018 2018
Entrez Id: 1476
Gene Symbol: CSTB
CSTB 		P04080 cystatin B Enzyme modulator 20 0.530 0.692 6.6E-03 0.100 None 1.000 1 1 2018 2018
Entrez Id: 166336
Gene Symbol: PRICKLE2
PRICKLE2 		Q7Z3G6 prickle planar cell polarity protein 2 Cellular structure 2 0.711 0.423 1.00 0.100 None 1.000 1 1 2018 2018
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1 		Q9NQ66 phospholipase C beta 1 Enzyme 3 0.595 0.654 0.98 0.100 None 1.000 1 1 2018 2018
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		Q5T011 SZT2 subunit of KICSTOR complex 10 0.670 0.423 2.3E-14 0.100 None 1.000 1 8 2018 2018
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2 		Q9UHC6 contactin associated protein 2 4 0.530 0.846 2.9E-09 0.100 None 1.000 1 2 2018 2018