Disease: Epileptic encephalopathy
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
BRAT1 Q6PJG6 BRCA1 associated ATM activator 1 7.4E-13 0.695 0.231
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
CACNA1E Q15878 calcium voltage-gated channel subunit alpha1 E Ion channel 1.00 0.650 0.577
CACNA2D2 Q9NY47 calcium voltage-gated channel auxiliary subunit alpha2delta 2 Ion channel 1.00 0.626 0.615
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731
DENND5A Q6IQ26 DENN domain containing 5A 5.8E-02 0.821 0.115
DHDDS Q86SQ9 dehydrodolichyl diphosphate synthase subunit Enzyme 0.25 0.468 0.885
FARS2 O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 9.3E-09 0.615 0.731
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615
GLS O94925 glutaminase Enzyme 0.96 0.489 0.808
GPHN Q9NQX3 gephyrin 1.00 0.608 0.538
GRIN2D O15399 glutamate ionotropic receptor NMDA type subunit 2D Ion channel 1.00 0.650 0.538
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NECAP1 Q8NC96 NECAP endocytosis associated 1 0.13 0.691 0.346
NEDD4L Q96PU5 NEDD4 like E3 ubiquitin protein ligase Enzyme 1.00 0.573 0.731
NEUROD2 Q15784 neuronal differentiation 2 Enzyme 0.94 0.619 0.538
PARS2 Q7L3T8 prolyl-tRNA synthetase 2, mitochondrial Enzyme 4.1E-03 0.644 0.423
PIGA P37287 phosphatidylinositol glycan anchor biosynthesis class A 0.96 0.575 0.654
PIGP P57054 phosphatidylinositol glycan anchor biosynthesis class P 1.9E-03 0.633 0.462
PLCB1 Q9NQ66 phospholipase C beta 1 Enzyme 0.98 0.595 0.654
PNPO Q9NVS9 pyridoxamine 5'-phosphate oxidase Enzyme 1.1E-08 0.659 0.500