Disease: Low set ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACOX1 Q15067 acyl-CoA oxidase 1 Enzyme 6.2E-02 0.610 0.731
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
CHAMP1 Q96JM3 chromosome alignment maintaining phosphoprotein 1 0.99 0.691 0.500
CHD3 Q12873 chromodomain helicase DNA binding protein 3 1.00 0.670 0.577
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
EYA1 Q99502 EYA transcriptional coactivator and phosphatase 1 0.95 0.531 0.731
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
FKTN O75072 fukutin 8.7E-07 0.511 0.692
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
GPC4 O75487 glypican 4 0.93 0.547 0.769
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769