Disease: Midface retrusion
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
OBSL1 O75147 obscurin like cytoskeletal adaptor 1 1.0E-25 0.686 0.308
SEC23A Q15436 Sec23 homolog A, COPII coat complex component Enzyme modulator 1.1E-11 0.659 0.423
HECW2 Q9P2P5 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 Enzyme 1.00 0.705 0.423
ZNHIT3 Q15649 zinc finger HIT-type containing 3 5.5E-07 0.666 0.462
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
CUL7 Q14999 cullin 7 2.6E-21 0.633 0.500
MEGF8 Q7Z7M0 multiple EGF like domains 8 Enzyme modulator 1.9E-05 0.584 0.538
IFT52 Q9Y366 intraflagellar transport 52 2.0E-06 0.653 0.538
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
NXN Q6DKJ4 nucleoredoxin 1.00 0.584 0.577
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
TONSL Q96HA7 tonsoku like, DNA repair protein 2.6E-13 0.653 0.615
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
ERF P50548 ETS2 repressor factor Transcription factor 0.99 0.572 0.654
FZD2 Q14332 frizzled class receptor 2 G-protein coupled receptor 0.65 0.558 0.654
KIF22 Q14807 kinesin family member 22 Cellular structure 9.2E-10 0.552 0.654
POU1F1 P28069 POU class 1 homeobox 1 4.5E-02 0.548 0.654
KIF15 Q9NS87 kinesin family member 15 Cellular structure 9.5E-25 0.617 0.654
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
SLC26A2 P50443 solute carrier family 26 member 2 Transporter 7.5E-07 0.553 0.692
SIX3 O95343 SIX homeobox 3 Transcription factor 0.95 0.560 0.692
COG1 Q8WTW3 component of oligomeric golgi complex 1 4.9E-08 0.628 0.692