Disease: Infantile Spasm
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
AKT3 Q9Y243 AKT serine/threonine kinase 3 Kinase 1.00 0.512 0.808
SORCS3 Q9UPU3 sortilin related VPS10 domain containing receptor 3 Transporter 3.7E-05 0.760 0.231
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808
PNPO Q9NVS9 pyridoxamine 5'-phosphate oxidase Enzyme 1.1E-08 0.659 0.500
PLCB1 Q9NQ66 phospholipase C beta 1 Enzyme 0.98 0.595 0.654
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
ATG10 Q9H0Y0 autophagy related 10 2.2E-08 0.653 0.577
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
TSC1 Q92574 TSC complex subunit 1 1.00 0.440 0.808
MAGI2 Q86UL8 membrane associated guanylate kinase, WW and PDZ domain containing 2 1.00 0.579 0.654
PIGW Q7Z7B1 phosphatidylinositol glycan anchor biosynthesis class W Enzyme 1.2E-05 0.633 0.654
ARC Q7LC44 activity regulated cytoskeleton associated protein 0.59 0.573 0.769
PARS2 Q7L3T8 prolyl-tRNA synthetase 2, mitochondrial Enzyme 4.1E-03 0.644 0.423
RARS2 Q5T160 arginyl-tRNA synthetase 2, mitochondrial 7.7E-14 0.663 0.462
TIMM50 Q3ZCQ8 translocase of inner mitochondrial membrane 50 1.8E-03 0.678 0.500
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846
DPYS Q14117 dihydropyrimidinase Enzyme 2.8E-11 0.621 0.577
SPTAN1 Q13813 spectrin alpha, non-erythrocytic 1 1.00 0.601 0.615
TCOF1 Q13428 treacle ribosome biogenesis factor 1 0.95 0.550 0.808
KCNAB2 Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 0.80 0.593 0.692
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692