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
ACTG2 P63267 actin gamma 2, smooth muscle Cellular structure 7.1E-02 0.505 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
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
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
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DIPK1A Q5T7M9 divergent protein kinase domain 1A 0.58 0.743 0.423
FGD1 P98174 FYVE, RhoGEF and PH domain containing 1 Enzyme modulator 1.00 0.573 0.731
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769