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
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ADA2 Q9NZK5 adenosine deaminase 2 Enzyme 8.1E-08 0.545 0.846
ADAMTSL2 Q86TH1 ADAMTS like 2 Enzyme 1.6E-03 0.666 0.346
AFF4 Q9UHB7 AF4/FMR2 family member 4 Transcription factor 1.00 0.644 0.769
AGA P20933 aspartylglucosaminidase Enzyme 4.3E-06 0.570 0.808
ARSL P51690 arylsulfatase L Enzyme 0.59 0.663 0.654
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
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731
BLM P54132 BLM RecQ like helicase 1.5E-15 0.535 0.808
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
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
CDON Q4KMG0 cell adhesion associated, oncogene regulated 2.1E-15 0.601 0.731
CEP57 Q86XR8 centrosomal protein 57 7.3E-02 0.615 0.615
CHSY1 Q86X52 chondroitin sulfate synthase 1 Enzyme 0.71 0.612 0.615