Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423 26 2
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654 28 201
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692 29 59
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769 31 10
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692 37 171
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808 39 371
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731 40 74
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808 48 17
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 50 425
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 57 70
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577 59 77
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731 83 60