Disease: Prominent nasal bridge
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ARL6 Q9H0F7 ADP ribosylation factor like GTPase 6 1.0E-02 0.636 0.462
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769
BBIP1 A8MTZ0 BBSome interacting protein 1 4.2E-03 0.695 0.423
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
BBS12 Q6ZW61 Bardet-Biedl syndrome 12 2.3E-07 0.674 0.462
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
BBS4 Q96RK4 Bardet-Biedl syndrome 4 1.5E-16 0.647 0.615
BBS5 Q8N3I7 Bardet-Biedl syndrome 5 4.8E-06 0.659 0.577
BBS7 Q8IWZ6 Bardet-Biedl syndrome 7 7.1E-09 0.682 0.462
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 0.577
C8orf37 Q96NL8 chromosome 8 open reading frame 37 2.4E-05 0.628 0.538
CEP120 Q8N960 centrosomal protein 120 4.1E-15 0.564 0.731
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
EBP Q15125 EBP cholestenol delta-isomerase Enzyme 0.94 0.494 0.846
ERCC1 P07992 ERCC excision repair 1, endonuclease non-catalytic subunit Enzyme 1.6E-07 0.445 0.846
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
GATA4 P43694 GATA binding protein 4 0.49 0.458 0.846
GP1BB P13224 glycoprotein Ib platelet subunit beta 0.51 0.524 0.769
GPC4 O75487 glypican 4 0.93 0.547 0.769
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
HIRA P54198 histone cell cycle regulator Nucleic acid binding 1.00 0.537 0.808