Disease: Low-set, posteriorly rotated ears
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACAN P16112 aggrecan Extracellular structure 1.00 0.528 0.846
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
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
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
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
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
ELN P15502 elastin 2.1E-14 0.415 0.885
ERF P50548 ETS2 repressor factor Transcription factor 0.99 0.572 0.654
EZH2 Q15910 enhancer of zeste 2 polycomb repressive complex 2 subunit Epigenetic regulator 1.00 0.376 0.885
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
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846