Disease: Short nose
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
ALDH6A1 Q02252 aldehyde dehydrogenase 6 family member A1 Enzyme 7.6E-10 0.716 0.462
ALG9 Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 6.4E-04 0.644 0.654
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
ATAD3A Q9NVI7 ATPase family AAA domain containing 3A Enzyme 4.1E-09 0.628 0.692
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
CDKN1C P49918 cyclin dependent kinase inhibitor 1C 0.82 0.456 0.846
CEP57 Q86XR8 centrosomal protein 57 7.3E-02 0.615 0.615
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
DDR2 Q16832 discoidin domain receptor tyrosine kinase 2 Kinase 0.55 0.541 0.769
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
DHCR24 Q15392 24-dehydrocholesterol reductase Enzyme 3.1E-02 0.498 0.769
DSE Q9UL01 dermatan sulfate epimerase 0.63 0.700 0.462
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
DVL3 Q92997 dishevelled segment polarity protein 3 Signaling 0.39 0.537 0.731
EDA Q92838 ectodysplasin A 0.97 0.553 0.808
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
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