Disease: Short nose
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ADAMTSL2 Q86TH1 ADAMTS like 2 Enzyme 1.6E-03 0.666 0.346
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
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
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
ATP6V1E1 P36543 ATPase H+ transporting V1 subunit E1 Transporter 0.53 0.610 0.769
AVP P01185 arginine vasopressin Signaling 7.4E-02 0.437 0.846
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 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
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CD96 P40200 CD96 molecule 1.4E-11 0.592 0.692
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808
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
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DSE Q9UL01 dermatan sulfate epimerase 0.63 0.700 0.462