Disease: Epileptic encephalopathy
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DENND5A Q6IQ26 DENN domain containing 5A 5.8E-02 0.821 0.115
BRAT1 Q6PJG6 BRCA1 associated ATM activator 1 7.4E-13 0.695 0.231
NECAP1 Q8NC96 NECAP endocytosis associated 1 0.13 0.691 0.346
PARS2 Q7L3T8 prolyl-tRNA synthetase 2, mitochondrial Enzyme 4.1E-03 0.644 0.423
PIGP P57054 phosphatidylinositol glycan anchor biosynthesis class P 1.9E-03 0.633 0.462
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
PNPO Q9NVS9 pyridoxamine 5'-phosphate oxidase Enzyme 1.1E-08 0.659 0.500
GRIN2D O15399 glutamate ionotropic receptor NMDA type subunit 2D Ion channel 1.00 0.650 0.538
NEUROD2 Q15784 neuronal differentiation 2 Enzyme 0.94 0.619 0.538
GPHN Q9NQX3 gephyrin 1.00 0.608 0.538
CACNA1E Q15878 calcium voltage-gated channel subunit alpha1 E Ion channel 1.00 0.650 0.577
SLC13A5 Q86YT5 solute carrier family 13 member 5 Transporter 5.1E-04 0.608 0.577
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615
CACNA2D2 Q9NY47 calcium voltage-gated channel auxiliary subunit alpha2delta 2 Ion channel 1.00 0.626 0.615
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
PIGA P37287 phosphatidylinositol glycan anchor biosynthesis class A 0.96 0.575 0.654
PLCB1 Q9NQ66 phospholipase C beta 1 Enzyme 0.98 0.595 0.654
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
FARS2 O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 9.3E-09 0.615 0.731
NEDD4L Q96PU5 NEDD4 like E3 ubiquitin protein ligase Enzyme 1.00 0.573 0.731
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731