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
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
B9D1 Q9UPM9 B9 domain containing 1 Extracellular structure 2.8E-03 0.572 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
CEP41 Q9BYV8 centrosomal protein 41 3.6E-06 0.636 0.500
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
COG1 Q8WTW3 component of oligomeric golgi complex 1 4.9E-08 0.628 0.692
FAM149B1 Q96BN6 family with sequence similarity 149 member B1 2.5E-13 0.663 0.423
FRMD4A Q9P2Q2 FERM domain containing 4A 1.00 0.650 0.538
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
GPC3 P51654 glypican 3 1.00 0.466 0.808
GPC4 O75487 glypican 4 0.93 0.547 0.769
HYLS1 Q96M11 HYLS1 centriolar and ciliogenesis associated 2.3E-09 0.572 0.692
INPP5E Q9NRR6 inositol polyphosphate-5-phosphatase E 3.1E-03 0.561 0.615
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731
KIAA0753 Q2KHM9 KIAA0753 1.6E-28 0.631 0.577
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769
NPHP1 O15259 nephrocystin 1 1.2E-17 0.572 0.731
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808