Disease: Bulbous nose
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALG3 Q92685 ALG3 alpha-1,3- mannosyltransferase Enzyme 3.7E-10 0.644 0.500
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
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
CIT O14578 citron rho-interacting serine/threonine kinase Kinase 1.00 0.555 0.692
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EXT2 Q93063 exostosin glycosyltransferase 2 Enzyme 1.3E-09 0.576 0.654
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
KAT6A Q92794 lysine acetyltransferase 6A Enzyme 1.00 0.560 0.769
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
PYCR1 P32322 pyrroline-5-carboxylate reductase 1 2.0E-04 0.570 0.654
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
SMARCAL1 Q9NZC9 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 2.3E-06 0.599 0.654
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
TMEM231 Q9H6L2 transmembrane protein 231 3.1E-07 0.554 0.692
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462