Disease: Short nose
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AGA P20933 aspartylglucosaminidase Enzyme 4.3E-06 0.570 0.808
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
ARSL P51690 arylsulfatase L Enzyme 0.59 0.663 0.654
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
BMPER Q8N8U9 BMP binding endothelial regulator Enzyme modulator 6.6E-07 0.641 0.577
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
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
CD96 P40200 CD96 molecule 1.4E-11 0.592 0.692
CDCA7 Q9BWT1 cell division cycle associated 7 1.1E-02 0.626 0.654
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
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
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
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846