Disease: Low-set, posteriorly rotated ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
GPC3 P51654 glypican 3 1.00 0.466 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769
TMEM216 Q9P0N5 transmembrane protein 216 1.9E-03 0.544 0.615
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
GPC4 O75487 glypican 4 0.93 0.547 0.769
TMEM231 Q9H6L2 transmembrane protein 231 3.1E-07 0.554 0.692
INPP5E Q9NRR6 inositol polyphosphate-5-phosphatase E 3.1E-03 0.561 0.615
CEP120 Q8N960 centrosomal protein 120 4.1E-15 0.564 0.731
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
TCTN3 Q6NUS6 tectonic family member 3 4.2E-12 0.566 0.615
NPHP1 O15259 nephrocystin 1 1.2E-17 0.572 0.731
B9D1 Q9UPM9 B9 domain containing 1 Extracellular structure 2.8E-03 0.572 0.692
HYLS1 Q96M11 HYLS1 centriolar and ciliogenesis associated 2.3E-09 0.572 0.692
SLC25A24 Q6NUK1 solute carrier family 25 member 24 Transporter 3.4E-12 0.575 0.731