Disease: Low-set, posteriorly rotated ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
B9D2 Q9BPU9 B9 domain containing 2 Extracellular structure 5.3E-05 0.606 0.577
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
BBS4 Q96RK4 Bardet-Biedl syndrome 4 1.5E-16 0.647 0.615
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
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
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
CEP55 Q53EZ4 centrosomal protein 55 2.0E-12 0.534 0.731
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DYNC2H1 Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 1.1E-44 0.555 0.731
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
GPC3 P51654 glypican 3 1.00 0.466 0.808
GPC4 O75487 glypican 4 0.93 0.547 0.769
KCNAB2 Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 0.80 0.593 0.692
LZTFL1 Q9NQ48 leucine zipper transcription factor like 1 5.9E-02 0.638 0.692
MKKS Q9NPJ1 McKusick-Kaufman syndrome 2.1E-09 0.566 0.692
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
PEX10 O60683 peroxisomal biogenesis factor 10 5.4E-04 0.584 0.654
PEX13 Q92968 peroxisomal biogenesis factor 13 5.9E-05 0.597 0.654
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
PKHD1 P08F94 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 1.2E-47 0.576 0.654
PRDM16 Q9HAZ2 PR/SET domain 16 1.00 0.522 0.808
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769