Disease: West Syndrome
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
FARS2 O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 9.3E-09 0.615 0.731
PNPO Q9NVS9 pyridoxamine 5'-phosphate oxidase Enzyme 1.1E-08 0.659 0.500
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
PIGP P57054 phosphatidylinositol glycan anchor biosynthesis class P 1.9E-03 0.633 0.462
PARS2 Q7L3T8 prolyl-tRNA synthetase 2, mitochondrial Enzyme 4.1E-03 0.644 0.423
KCNJ11 Q14654 potassium inwardly rectifying channel subfamily J member 11 Ion channel 1.1E-02 0.529 0.615
SLC19A3 Q9BZV2 solute carrier family 19 member 3 Transporter 0.10 0.610 0.692
DCX O43602 doublecortin 0.30 0.511 0.769
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
NEUROD2 Q15784 neuronal differentiation 2 Enzyme 0.94 0.619 0.538
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
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
PAFAH1B1 P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 1.00 0.504 0.769
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
PTCH1 Q13635 patched 1 1.00 0.398 0.885
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808