Disease: Low-set, posteriorly rotated ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FRAS1 Q86XX4 Fraser extracellular matrix complex subunit 1 3.1E-45 0.560 0.577
DYNC2H1 Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 1.1E-44 0.555 0.731
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769
CEP120 Q8N960 centrosomal protein 120 4.1E-15 0.564 0.731
TCTN2 Q96GX1 tectonic family member 2 1.8E-14 0.578 0.654
FREM2 Q5SZK8 FRAS1 related extracellular matrix 2 3.6E-11 0.566 0.577
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
TGDS O95455 TDP-glucose 4,6-dehydratase 2.5E-09 0.644 0.538
SEMA3E O15041 semaphorin 3E Signaling 8.7E-09 0.515 0.769
LETM1 O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 1.2E-06 0.545 0.692
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731
DHODH Q02127 dihydroorotate dehydrogenase (quinone) Enzyme 3.0E-03 0.576 0.769
SMOC1 Q9H4F8 SPARC related modular calcium binding 1 Calcium-binding protein 9.5E-03 0.565 0.846
NELFA Q9H3P2 negative elongation factor complex member A 0.13 0.619 0.615
GRIP1 Q9Y3R0 glutamate receptor interacting protein 1 0.51 0.581 0.769
NAA10 P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 0.76 0.535 0.692
GPC4 O75487 glypican 4 0.93 0.547 0.769
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
SF3B4 Q15427 splicing factor 3b subunit 4 0.99 0.576 0.615
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
RPL5 P46777 ribosomal protein L5 Nucleic acid binding 1.00 0.617 0.615
GPC3 P51654 glypican 3 1.00 0.466 0.808