Disease: Hypoplasia of corpus callosum
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COG7 P83436 component of oligomeric golgi complex 7 2.6E-07 0.686 0.500
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
FBXL4 Q9UKA2 F-box and leucine rich repeat protein 4 1.1E-08 0.695 0.423
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769
MDH2 P40926 malate dehydrogenase 2 Enzyme 6.7E-03 0.595 0.731
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
PAFAH1B1 P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 1.00 0.504 0.769
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
PYCR2 Q96C36 pyrroline-5-carboxylate reductase 2 2.1E-06 0.682 0.462
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423