Disease: Low set ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
AGRN O00468 agrin 5.5E-07 0.626 0.538
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
AP3B1 O00203 adaptor related protein complex 3 subunit beta 1 Transporter 0.62 0.619 0.808
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
ATP6V1E1 P36543 ATPase H+ transporting V1 subunit E1 Transporter 0.53 0.610 0.769
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
DHODH Q02127 dihydroorotate dehydrogenase (quinone) Enzyme 3.0E-03 0.576 0.769
EYA1 Q99502 EYA transcriptional coactivator and phosphatase 1 0.95 0.531 0.731
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FHL1 Q13642 four and a half LIM domains 1 0.97 0.532 0.731
FLNA P21333 filamin A 1.00 0.419 0.846
GPC4 O75487 glypican 4 0.93 0.547 0.769
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885
IGF1R P08069 insulin like growth factor 1 receptor Kinase 0.97 0.399 0.885
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KIF22 Q14807 kinesin family member 22 Cellular structure 9.2E-10 0.552 0.654
MYO18B Q8IUG5 myosin XVIIIB 1.0E-31 0.628 0.615
MYO9A B2RTY4 myosin IXA 0.49 0.647 0.500
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808