Disease: Upward slant of palpebral fissure
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
ANKLE2 Q86XL3 ankyrin repeat and LEM domain containing 2 1.0E-10 0.691 0.500
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
CIT O14578 citron rho-interacting serine/threonine kinase Kinase 1.00 0.555 0.692
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
KIF11 P52732 kinesin family member 11 Cellular structure 1.00 0.560 0.769
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MFSD2A Q8NA29 major facilitator superfamily domain containing 2A Transporter 1.1E-02 0.626 0.538
MYCN P04198 MYCN proto-oncogene, bHLH transcription factor Transcription factor 0.89 0.454 0.808
NBN O60934 nibrin Nucleic acid binding 2.2E-16 0.467 0.808
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769