Disease: Hypoplasia of corpus callosum
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
PIK3R2 O00459 phosphoinositide-3-kinase regulatory subunit 2 Enzyme modulator 1.6E-02 0.551 0.808
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
RNASEH2A O75792 ribonuclease H2 subunit A Enzyme 4.2E-03 0.592 0.692
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ASNS P08243 asparagine synthetase (glutamine-hydrolyzing) Enzyme 9.4E-06 0.595 0.692
DARS1 P14868 aspartyl-tRNA synthetase 1 Enzyme 8.5E-06 0.711 0.500
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
PCGF2 P35227 polycomb group ring finger 2 0.86 0.579 0.615
PIGA P37287 phosphatidylinositol glycan anchor biosynthesis class A 0.96 0.575 0.654
GRIA3 P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 1.00 0.566 0.692
PAFAH1B1 P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 1.00 0.504 0.769
SLC6A9 P48067 solute carrier family 6 member 9 Transporter 2.2E-05 0.641 0.500
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
PIGP P57054 phosphatidylinositol glycan anchor biosynthesis class P 1.9E-03 0.633 0.462
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
MRPS22 P82650 mitochondrial ribosomal protein S22 1.5E-05 0.638 0.500
AMPD2 Q01433 adenosine monophosphate deaminase 2 Enzyme 4.5E-07 0.663 0.577
SLC6A3 Q01959 solute carrier family 6 member 3 Transporter 1.00 0.453 0.885