Disease: Low-set, posteriorly rotated ears
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SEMA3E O15041 semaphorin 3E Signaling 8.7E-09 0.515 0.769
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
NPHP1 O15259 nephrocystin 1 1.2E-17 0.572 0.731
BUB1 O43683 BUB1 mitotic checkpoint serine/threonine kinase Kinase 4.9E-09 0.528 0.731
BUB3 O43684 BUB3 mitotic checkpoint protein Nucleic acid binding 0.81 0.588 0.615
PDE6D O43924 phosphodiesterase 6D Enzyme 6.4E-03 0.623 0.577
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
GPC4 O75487 glypican 4 0.93 0.547 0.769
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
ALX3 O95076 ALX homeobox 3 1.9E-02 0.578 0.692
LETM1 O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 1.2E-06 0.545 0.692
PIGN O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 2.3E-21 0.558 0.615
TGDS O95455 TDP-glucose 4,6-dehydratase 2.5E-09 0.644 0.538
WDPCP O95876 WD repeat containing planar cell polarity effector 1.1E-10 0.576 0.769
NSD2 O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 1.00 0.507 0.769
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
EDN1 P05305 endothelin 1 Signaling 0.46 0.380 0.846
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
TUBB P07437 tubulin beta class I Cellular structure 0.98 0.603 0.692
GNAI3 P08754 G protein subunit alpha i3 Enzyme modulator 3.8E-02 0.653 0.615
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885