Disease: Upward slant of palpebral fissure
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KNL1 Q8NG31 kinetochore scaffold 1 0.78 0.644 0.615
UBE2A P49459 ubiquitin conjugating enzyme E2 A 0.81 0.623 0.692
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
CDK6 Q00534 cyclin dependent kinase 6 Kinase 0.98 0.471 0.731
UFD1 Q92890 ubiquitin recognition factor in ER associated degradation 1 1.00 0.537 0.769
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
PHC1 P78364 polyhomeotic homolog 1 Nucleic acid binding 1.00 0.644 0.692
CIT O14578 citron rho-interacting serine/threonine kinase Kinase 1.00 0.555 0.692
MAP3K7 O43318 mitogen-activated protein kinase kinase kinase 7 Kinase 1.00 0.477 0.808
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
CHD4 Q14839 chromodomain helicase DNA binding protein 4 1.00 0.593 0.654
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
HNRNPU Q00839 heterogeneous nuclear ribonucleoprotein U 1.00 0.575 0.654
RREB1 Q92766 ras responsive element binding protein 1 1.00 0.500 0.808
HIRA P54198 histone cell cycle regulator Nucleic acid binding 1.00 0.537 0.808
TRRAP Q9Y4A5 transformation/transcription domain associated protein 1.00 0.572 0.692
COPB2 P35606 COPI coat complex subunit beta 2 Transporter 1.00 0.644 0.615
SEC24C P53992 SEC24 homolog C, COPII coat complex component Transporter 1.00 0.543 0.808
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808