Disease: Midface retrusion
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AMMECR1 Q9Y4X0 AMMECR nuclear protein 1 0.82 0.659 0.692
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
B3GAT3 O94766 beta-1,3-glucuronyltransferase 3 Enzyme 2.7E-08 0.621 0.538
B4GALT7 Q9UBV7 beta-1,4-galactosyltransferase 7 1.1E-04 0.628 0.654
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
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731
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
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
DCHS1 Q96JQ0 dachsous cadherin-related 1 1.00 0.592 0.731
DSE Q9UL01 dermatan sulfate epimerase 0.63 0.700 0.462
FAM20C Q8IXL6 FAM20C golgi associated secretory pathway kinase 0.31 0.578 0.731
FAT4 Q6V0I7 FAT atypical cadherin 4 1.00 0.539 0.808
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FLNA P21333 filamin A 1.00 0.419 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
IARS2 Q9NSE4 isoleucyl-tRNA synthetase 2, mitochondrial Enzyme 8.1E-02 0.590 0.654
KCNAB2 Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 0.80 0.593 0.692
LMNA P02545 lamin A/C 1.00 0.384 0.885
MAF O75444 MAF bZIP transcription factor Transcription factor 0.74 0.623 0.769