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
B9D1 Q9UPM9 B9 domain containing 1 Extracellular structure 2.8E-03 0.572 0.692
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
CEP120 Q8N960 centrosomal protein 120 4.1E-15 0.564 0.731
CEP41 Q9BYV8 centrosomal protein 41 3.6E-06 0.636 0.500
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
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
EED O75530 embryonic ectoderm development 1.00 0.588 0.615
FAM149B1 Q96BN6 family with sequence similarity 149 member B1 2.5E-13 0.663 0.423
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885
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
KCNAB2 Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 0.80 0.593 0.692
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
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
NPHP1 O15259 nephrocystin 1 1.2E-17 0.572 0.731