Disease: Generalized myoclonic seizures
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
BTD P43251 biotinidase Enzyme 1.5E-07 0.628 0.654
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
GABRA1 P14867 gamma-aminobutyric acid type A receptor subunit alpha1 Ion channel 0.91 0.563 0.577
GABRB3 P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 0.95 0.546 0.615
KCNJ11 Q14654 potassium inwardly rectifying channel subfamily J member 11 Ion channel 1.1E-02 0.529 0.615
KCNT2 Q6UVM3 potassium sodium-activated channel subfamily T member 2 4.2E-02 0.711 0.308
ND1 P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 0.522 0.769
ND2 P03891 MTND2 0.601 0.615
ND3 P03897 NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
ND4 P03905 NADH dehydrogenase, subunit 4 (complex I) Enzyme 0.546 0.769
ND5 P03915 NADH dehydrogenase, subunit 5 (complex I) Enzyme 0.531 0.769
ND6 P03923 NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
NGLY1 Q96IV0 N-glycanase 1 Enzyme 1.5E-13 0.601 0.654
PIGA P37287 phosphatidylinositol glycan anchor biosynthesis class A 0.96 0.575 0.654
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
SIK1 A0A0B4J2F2 P57059 salt inducible kinase 1 Kinase 0.94 0.544 0.731
SLC25A22 Q9H936 solute carrier family 25 member 22 Transporter 6.6E-03 0.595 0.577
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808
TRNK tRNA 0.608 0.577