Disease: Midface retrusion
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PSMD12 O00232 proteasome 26S subunit, non-ATPase 12 Enzyme modulator 1.00 0.578 0.808
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
POLR1C O15160 RNA polymerase I and III subunit C Enzyme 6.3E-10 0.595 0.615
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
B3GAT3 O94766 beta-1,3-glucuronyltransferase 3 Enzyme 2.7E-08 0.621 0.538
POLR1A O95602 RNA polymerase I subunit A Enzyme 1.00 0.682 0.538
POLR1D P0DPB5 P0DPB6 RNA polymerase I and III subunit D Enzyme 0.36 0.603 0.692
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
SKI P12755 SKI proto-oncogene 1.00 0.503 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
HSPA9 P38646 heat shock protein family A (Hsp70) member 9 0.97 0.502 0.885
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
RPS28 P62857 ribosomal protein S28 Nucleic acid binding 0.68 0.716 0.423
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
KCNAB2 Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 0.80 0.593 0.692
TCOF1 Q13428 treacle ribosome biogenesis factor 1 0.95 0.550 0.808
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
SF3B4 Q15427 splicing factor 3b subunit 4 0.99 0.576 0.615
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846
FAT4 Q6V0I7 FAT atypical cadherin 4 1.00 0.539 0.808
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
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769