Disease: Low-set, posteriorly rotated ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
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
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
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
CEP57 Q86XR8 centrosomal protein 57 7.3E-02 0.615 0.615
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FLI1 Q01543 Fli-1 proto-oncogene, ETS transcription factor Transcription factor 0.99 0.468 0.692
FRAS1 Q86XX4 Fraser extracellular matrix complex subunit 1 3.1E-45 0.560 0.577
FREM2 Q5SZK8 FRAS1 related extracellular matrix 2 3.6E-11 0.566 0.577
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
GPC3 P51654 glypican 3 1.00 0.466 0.808
GPC4 O75487 glypican 4 0.93 0.547 0.769
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808