Disease: West Syndrome
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
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DCX O43602 doublecortin 0.30 0.511 0.769
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
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
KCNJ11 Q14654 potassium inwardly rectifying channel subfamily J member 11 Ion channel 1.1E-02 0.529 0.615
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NEUROD2 Q15784 neuronal differentiation 2 Enzyme 0.94 0.619 0.538
PAFAH1B1 P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 1.00 0.504 0.769
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
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
PLCB1 Q9NQ66 phospholipase C beta 1 Enzyme 0.98 0.595 0.654
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
PNPO Q9NVS9 pyridoxamine 5'-phosphate oxidase Enzyme 1.1E-08 0.659 0.500
PTCH1 Q13635 patched 1 1.00 0.398 0.885
SLC19A3 Q9BZV2 solute carrier family 19 member 3 Transporter 0.10 0.610 0.692
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731