Disease: Prominent nasal bridge
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
PDE6D O43924 phosphodiesterase 6D Enzyme 6.4E-03 0.623 0.577
GPC4 O75487 glypican 4 0.93 0.547 0.769
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 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
CENPF P49454 centromere protein F 1.9E-36 0.601 0.654
TRIM32 Q13049 tripartite motif containing 32 1.7E-03 0.587 0.769
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808
EBP Q15125 EBP cholestenol delta-isomerase Enzyme 0.94 0.494 0.846
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 0.577
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769
TCTN3 Q6NUS6 tectonic family member 3 4.2E-12 0.566 0.615
BBS12 Q6ZW61 Bardet-Biedl syndrome 12 2.3E-07 0.674 0.462
ARMC9 Q7Z3E5 armadillo repeat containing 9 6.2E-17 0.612 0.731
SDCCAG8 Q86SQ7 serologically defined colon cancer antigen 8 1.2E-11 0.619 0.577
BBS7 Q8IWZ6 Bardet-Biedl syndrome 7 7.1E-09 0.682 0.462
CKAP2L Q8IYA6 cytoskeleton associated protein 2 like 1.6E-04 0.666 0.577
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
BBS5 Q8N3I7 Bardet-Biedl syndrome 5 4.8E-06 0.659 0.577
CEP120 Q8N960 centrosomal protein 120 4.1E-15 0.564 0.731