Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 50 425
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731 40 74
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808 39 371
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808 34 55
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808 22 34
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692 20 14
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462 15 40
SCN9A Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 4.8E-19 0.543 0.615 13 54
GRIN1 Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 0.98 0.561 0.692 13 18
CPA6 Q8N4T0 carboxypeptidase A6 Enzyme 4.4E-17 0.716 0.346 11 5
SZT2 Q5T011 SZT2 subunit of KICSTOR complex 2.3E-14 0.670 0.423 10 14
KCNQ3 O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 0.80 0.604 0.462 10 13
SCN1B Q07699 sodium voltage-gated channel beta subunit 1 Ion channel 0.10 0.575 0.538 10 12
ASAH1 Q13510 N-acylsphingosine amidohydrolase 1 Enzyme 1.3E-12 0.526 0.808 9 13
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577 8 49
SPTAN1 Q13813 spectrin alpha, non-erythrocytic 1 1.00 0.601 0.615 7 18
SCARB2 Q14108 scavenger receptor class B member 2 Receptor 8.9E-05 0.606 0.615 5 21
SLC6A1 P30531 solute carrier family 6 member 1 Transporter 1.00 0.592 0.538 5 19
DEPDC5 O75140 DEP domain containing 5, GATOR1 subcomplex subunit Nucleic acid binding 0.12 0.631 0.538 4 77
RELN P78509 reelin 1.00 0.515 0.731 4 19
CNTNAP2 Q9UHC6 contactin associated protein 2 2.9E-09 0.530 0.846 4 17
KCNT1 Q5JUK3 potassium sodium-activated channel subfamily T member 1 Ion channel 2.8E-05 0.610 0.308 4 16
EPM2A O95278 EPM2A glucan phosphatase, laforin 8.7E-06 0.608 0.577 3 8
PLCB1 Q9NQ66 phospholipase C beta 1 Enzyme 0.98 0.595 0.654 3 3