Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692
ZDHHC24 Q6UX98 zinc finger DHHC-type containing 24 4.2E-04 0.722 0.462
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423
ATP1A2 P50993 ATPase Na+/K+ transporting subunit alpha 2 Transporter 1.8E-04 0.597 0.615
CPA6 Q8N4T0 carboxypeptidase A6 Enzyme 4.4E-17 0.716 0.346
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731
COX3 P00414 cytochrome c oxidase III Enzyme 0.546 0.808
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
TSHR P16473 thyroid stimulating hormone receptor G-protein coupled receptor 3.0E-15 0.486 0.808
WDR37 Q9Y2I8 WD repeat domain 37 0.57 0.751 0.231
DMBX1 Q8NFW5 diencephalon/mesencephalon homeobox 1 0.93 0.780 0.115
MATN4 O95460 matrilin 4 Receptor 1.1E-08 0.769 0.308
SLC13A5 Q86YT5 solute carrier family 13 member 5 Transporter 5.1E-04 0.608 0.577
MTR Q99707 5-methyltetrahydrofolate-homocysteine methyltransferase 2.4E-12 0.482 0.808
DIAPH1 O60610 diaphanous related formin 1 0.92 0.623 0.654
AMPD2 Q01433 adenosine monophosphate deaminase 2 Enzyme 4.5E-07 0.663 0.577
ARFGEF2 Q9Y6D5 ADP ribosylation factor guanine nucleotide exchange factor 2 1.00 0.659 0.462
TSEN15 Q8WW01 tRNA splicing endonuclease subunit 15 0.28 0.769 0.115