Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
COX3 P00414 cytochrome c oxidase III Enzyme 0.546 0.808 160
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731 159
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731 150
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808 148
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731 141
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808 110
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692 92
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615 89
SYT2 Q8N9I0 synaptotagmin 2 Transporter 0.98 0.647 0.538 84
SLC13A5 Q86YT5 solute carrier family 13 member 5 Transporter 5.1E-04 0.608 0.577 76
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654 74
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538 71
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692 70
TSHR P16473 thyroid stimulating hormone receptor G-protein coupled receptor 3.0E-15 0.486 0.808 65
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 58
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500 54
ATP1A2 P50993 ATPase Na+/K+ transporting subunit alpha 2 Transporter 1.8E-04 0.597 0.615 53
SEC24D O94855 SEC24 homolog D, COPII coat complex component Transporter 1.3E-07 0.663 0.577 49
CHRM3 P20309 cholinergic receptor muscarinic 3 G-protein coupled receptor 0.99 0.464 0.885 48
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423 39
PTPRD P23468 protein tyrosine phosphatase receptor type D Enzyme 1.00 0.584 0.731 37
AMPD2 Q01433 adenosine monophosphate deaminase 2 Enzyme 4.5E-07 0.663 0.577 36
ZDHHC24 Q6UX98 zinc finger DHHC-type containing 24 4.2E-04 0.722 0.462 30
ARFGEF2 Q9Y6D5 ADP ribosylation factor guanine nucleotide exchange factor 2 1.00 0.659 0.462 26