Disease: Low-set, posteriorly rotated ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
A2ML1 A8K2U0 alpha-2-macroglobulin like 1 Enzyme modulator 1.6E-34 0.590 0.692
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
ALX1 Q15699 ALX homeobox 1 0.18 0.636 0.462
ALX3 O95076 ALX homeobox 3 1.9E-02 0.578 0.692
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
B9D1 Q9UPM9 B9 domain containing 1 Extracellular structure 2.8E-03 0.572 0.692
B9D2 Q9BPU9 B9 domain containing 2 Extracellular structure 5.3E-05 0.606 0.577
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BRPF1 P55201 bromodomain and PHD finger containing 1 1.00 0.686 0.385
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 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
CEP41 Q9BYV8 centrosomal protein 41 3.6E-06 0.636 0.500
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
EDN1 P05305 endothelin 1 Signaling 0.46 0.380 0.846
EED O75530 embryonic ectoderm development 1.00 0.588 0.615
ERF P50548 ETS2 repressor factor Transcription factor 0.99 0.572 0.654