Disease: Midface retrusion
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GAT3 O94766 beta-1,3-glucuronyltransferase 3 Enzyme 2.7E-08 0.621 0.538
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
CHST3 Q7LGC8 carbohydrate sulfotransferase 3 7.2E-03 0.517 0.846
COG1 Q8WTW3 component of oligomeric golgi complex 1 4.9E-08 0.628 0.692
DCHS1 Q96JQ0 dachsous cadherin-related 1 1.00 0.592 0.731
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
FAT4 Q6V0I7 FAT atypical cadherin 4 1.00 0.539 0.808
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
HSPA9 P38646 heat shock protein family A (Hsp70) member 9 0.97 0.502 0.885
KCNAB2 Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 0.80 0.593 0.692
KIF15 Q9NS87 kinesin family member 15 Cellular structure 9.5E-25 0.617 0.654
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
POLR1A O95602 RNA polymerase I subunit A Enzyme 1.00 0.682 0.538
POLR1C O15160 RNA polymerase I and III subunit C Enzyme 6.3E-10 0.595 0.615
POLR1D P0DPB5 P0DPB6 RNA polymerase I and III subunit D Enzyme 0.36 0.603 0.692
PRDM16 Q9HAZ2 PR/SET domain 16 1.00 0.522 0.808
PSMD12 O00232 proteasome 26S subunit, non-ATPase 12 Enzyme modulator 1.00 0.578 0.808
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
RPS28 P62857 ribosomal protein S28 Nucleic acid binding 0.68 0.716 0.423
SF3B4 Q15427 splicing factor 3b subunit 4 0.99 0.576 0.615