Disease: Hypoplasia of corpus callosum
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AAR2 Q9Y312 AAR2 splicing factor 8.3E-06 0.839 0.192
AP4B1 Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 1.3E-09 0.631 0.654
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
ARL14EP Q8N8R7 ADP ribosylation factor like GTPase 14 effector protein 0.38 0.861 0.192
ASNS P08243 asparagine synthetase (glutamine-hydrolyzing) Enzyme 9.4E-06 0.595 0.692
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DIAPH1 O60610 diaphanous related formin 1 0.92 0.623 0.654
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EIF2S3 P41091 eukaryotic translation initiation factor 2 subunit gamma Enzyme 0.96 0.604 0.731
FMN2 Q9NZ56 formin 2 1.00 0.610 0.538
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED25 Q71SY5 mediator complex subunit 25 Transcription factor 8.4E-07 0.582 0.654
MFSD2A Q8NA29 major facilitator superfamily domain containing 2A Transporter 1.1E-02 0.626 0.538
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846