Disease: Midface retrusion
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
RPS28 P62857 ribosomal protein S28 Nucleic acid binding 0.68 0.716 0.423
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
TSR2 Q969E8 TSR2 ribosome maturation factor 0.80 0.743 0.500
POLR1A O95602 RNA polymerase I subunit A Enzyme 1.00 0.682 0.538
B3GAT3 O94766 beta-1,3-glucuronyltransferase 3 Enzyme 2.7E-08 0.621 0.538
POLR1C O15160 RNA polymerase I and III subunit C Enzyme 6.3E-10 0.595 0.615
SF3B4 Q15427 splicing factor 3b subunit 4 0.99 0.576 0.615
KIF15 Q9NS87 kinesin family member 15 Cellular structure 9.5E-25 0.617 0.654
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
KCNAB2 Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 0.80 0.593 0.692
COG1 Q8WTW3 component of oligomeric golgi complex 1 4.9E-08 0.628 0.692
POLR1D P0DPB5 P0DPB6 RNA polymerase I and III subunit D Enzyme 0.36 0.603 0.692
DCHS1 Q96JQ0 dachsous cadherin-related 1 1.00 0.592 0.731
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808
PSMD12 O00232 proteasome 26S subunit, non-ATPase 12 Enzyme modulator 1.00 0.578 0.808
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
TCOF1 Q13428 treacle ribosome biogenesis factor 1 0.95 0.550 0.808
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
PRDM16 Q9HAZ2 PR/SET domain 16 1.00 0.522 0.808
FAT4 Q6V0I7 FAT atypical cadherin 4 1.00 0.539 0.808
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846