Disease: Low-set, posteriorly rotated ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACAN P16112 aggrecan Extracellular structure 1.00 0.528 0.846
ARL6 Q9H0F7 ADP ribosylation factor like GTPase 6 1.0E-02 0.636 0.462
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
BBIP1 A8MTZ0 BBSome interacting protein 1 4.2E-03 0.695 0.423
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
BBS12 Q6ZW61 Bardet-Biedl syndrome 12 2.3E-07 0.674 0.462
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
BBS4 Q96RK4 Bardet-Biedl syndrome 4 1.5E-16 0.647 0.615
BBS5 Q8N3I7 Bardet-Biedl syndrome 5 4.8E-06 0.659 0.577
BBS7 Q8IWZ6 Bardet-Biedl syndrome 7 7.1E-09 0.682 0.462
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 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
C8orf37 Q96NL8 chromosome 8 open reading frame 37 2.4E-05 0.628 0.538
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731
CD96 P40200 CD96 molecule 1.4E-11 0.592 0.692
CEP120 Q8N960 centrosomal protein 120 4.1E-15 0.564 0.731
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COG1 Q8WTW3 component of oligomeric golgi complex 1 4.9E-08 0.628 0.692
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CTNND2 Q9UQB3 catenin delta 2 Cellular structure 1.00 0.579 0.731
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846