Disease: Upward slant of palpebral fissure
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
CDK6 Q00534 cyclin dependent kinase 6 Kinase 0.98 0.471 0.731
MAP3K7 O43318 mitogen-activated protein kinase kinase kinase 7 Kinase 1.00 0.477 0.808
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
RREB1 Q92766 ras responsive element binding protein 1 1.00 0.500 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
JMJD1C Q15652 jumonji domain containing 1C 1.00 0.517 0.769
GP1BB P13224 glycoprotein Ib platelet subunit beta 0.51 0.524 0.769
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
HIRA P54198 histone cell cycle regulator Nucleic acid binding 1.00 0.537 0.808
UFD1 Q92890 ubiquitin recognition factor in ER associated degradation 1 1.00 0.537 0.769
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769
MCPH1 Q8NEM0 microcephalin 1 Nucleic acid binding 7.8E-30 0.540 0.846
SEC24C P53992 SEC24 homolog C, COPII coat complex component Transporter 1.00 0.543 0.808
FANCI Q9NVI1 FA complementation group I 8.9E-37 0.543 0.731
CENPJ Q9HC77 centromere protein J Enzyme 2.1E-27 0.546 0.846
CIT O14578 citron rho-interacting serine/threonine kinase Kinase 1.00 0.555 0.692