Disease: Short nose
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALG9 Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 6.4E-04 0.644 0.654
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
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
CD96 P40200 CD96 molecule 1.4E-11 0.592 0.692
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
DHCR24 Q15392 24-dehydrocholesterol reductase Enzyme 3.1E-02 0.498 0.769
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DIS3L2 Q8IYB7 DIS3 like 3'-5' exoribonuclease 2 0.94 0.647 0.500
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
ECE1 P42892 endothelin converting enzyme 1 Enzyme 0.96 0.541 0.769
FAM20C Q8IXL6 FAM20C golgi associated secretory pathway kinase 0.31 0.578 0.731
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
FLNA P21333 filamin A 1.00 0.419 0.846
FZD2 Q14332 frizzled class receptor 2 G-protein coupled receptor 0.65 0.558 0.654
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
GPC6 Q9Y625 glypican 6 0.14 0.626 0.654
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731