Disease: Short nose
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731
CDKN1C P49918 cyclin dependent kinase inhibitor 1C 0.82 0.456 0.846
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
FGD1 P98174 FYVE, RhoGEF and PH domain containing 1 Enzyme modulator 1.00 0.573 0.731
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
GAS1 P54826 growth arrest specific 1 0.82 0.587 0.654
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
NFIA Q12857 nuclear factor I A Nucleic acid binding 1.00 0.599 0.808
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
PAX3 P23760 paired box 3 0.24 0.481 0.769
ROR2 Q01974 receptor tyrosine kinase like orphan receptor 2 Kinase 1.2E-04 0.498 0.731
RPL5 P46777 ribosomal protein L5 Nucleic acid binding 1.00 0.617 0.615
RPS19 P39019 ribosomal protein S19 Nucleic acid binding 0.92 0.480 0.846
SC5D O75845 sterol-C5-desaturase Enzyme 2.6E-03 0.641 0.577
SHOC2 Q9UQ13 SHOC2 leucine rich repeat scaffold protein 1.00 0.593 0.769
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SMOC1 Q9H4F8 SPARC related modular calcium binding 1 Calcium-binding protein 9.5E-03 0.565 0.846