Disease: Upward slant of palpebral fissure
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
ANKLE2 Q86XL3 ankyrin repeat and LEM domain containing 2 1.0E-10 0.691 0.500
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
CDK5RAP2 Q96SN8 CDK5 regulatory subunit associated protein 2 4.6E-23 0.682 0.577
CENPJ Q9HC77 centromere protein J Enzyme 2.1E-27 0.546 0.846
CEP135 Q66GS9 centrosomal protein 135 Enzyme modulator 3.6E-22 0.695 0.615
CEP152 O94986 centrosomal protein 152 Signaling 2.7E-27 0.653 0.500
CEP63 Q96MT8 centrosomal protein 63 Cellular structure 6.2E-25 0.666 0.500
CHD4 Q14839 chromodomain helicase DNA binding protein 4 1.00 0.593 0.654
CIT O14578 citron rho-interacting serine/threonine kinase Kinase 1.00 0.555 0.692
COPB2 P35606 COPI coat complex subunit beta 2 Transporter 1.00 0.644 0.615
CDK6 Q00534 cyclin dependent kinase 6 Kinase 0.98 0.471 0.731
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
FANCI Q9NVI1 FA complementation group I 8.9E-37 0.543 0.731
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GP1BB P13224 glycoprotein Ib platelet subunit beta 0.51 0.524 0.769
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
HNRNPU Q00839 heterogeneous nuclear ribonucleoprotein U 1.00 0.575 0.654
HIRA P54198 histone cell cycle regulator Nucleic acid binding 1.00 0.537 0.808