Disease: Microstomia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CHST14 Q8NCH0 carbohydrate sulfotransferase 14 Enzyme 0.45 0.638 0.654
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
DCPS Q96C86 decapping enzyme, scavenger Enzyme 2.5E-07 0.612 0.538
EDN1 P05305 endothelin 1 Signaling 0.46 0.380 0.846
EIF4A3 P38919 eukaryotic translation initiation factor 4A3 1.00 0.608 0.500
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
GP1BB P13224 glycoprotein Ib platelet subunit beta 0.51 0.524 0.769
GSC P56915 goosecoid homeobox 1.4E-02 0.631 0.615
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885
LMNA P02545 lamin A/C 1.00 0.384 0.885
LTBP3 Q9NS15 latent transforming growth factor beta binding protein 3 Calcium-binding protein 0.69 0.564 0.846
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NFIA Q12857 nuclear factor I A Nucleic acid binding 1.00 0.599 0.808
PAX3 P23760 paired box 3 0.24 0.481 0.769
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769