Disease: Midface retrusion
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SLC25A24 Q6NUK1 solute carrier family 25 member 24 Transporter 3.4E-12 0.575 0.731
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
POLR1C O15160 RNA polymerase I and III subunit C Enzyme 6.3E-10 0.595 0.615
B3GAT3 O94766 beta-1,3-glucuronyltransferase 3 Enzyme 2.7E-08 0.621 0.538
COG1 Q8WTW3 component of oligomeric golgi complex 1 4.9E-08 0.628 0.692
OSGEP Q9NPF4 O-sialoglycoprotein endopeptidase Enzyme 7.1E-08 0.626 0.615
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731
B4GALT7 Q9UBV7 beta-1,4-galactosyltransferase 7 1.1E-04 0.628 0.654
CHST3 Q7LGC8 carbohydrate sulfotransferase 3 7.2E-03 0.517 0.846
IARS2 Q9NSE4 isoleucyl-tRNA synthetase 2, mitochondrial Enzyme 8.1E-02 0.590 0.654
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
FAM20C Q8IXL6 FAM20C golgi associated secretory pathway kinase 0.31 0.578 0.731
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846
POLR1D P0DPB5 P0DPB6 RNA polymerase I and III subunit D Enzyme 0.36 0.603 0.692
SP7 Q8TDD2 Sp7 transcription factor Nucleic acid binding 0.58 0.711 0.462
DSE Q9UL01 dermatan sulfate epimerase 0.63 0.700 0.462
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
MAF O75444 MAF bZIP transcription factor Transcription factor 0.74 0.623 0.769
KCNAB2 Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 0.80 0.593 0.692
AMMECR1 Q9Y4X0 AMMECR nuclear protein 1 0.82 0.659 0.692
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
TCOF1 Q13428 treacle ribosome biogenesis factor 1 0.95 0.550 0.808
ZBTB20 Q9HC78 zinc finger and BTB domain containing 20 0.97 0.566 0.731
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846