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
ATAD3A Q9NVI7 ATPase family AAA domain containing 3A Enzyme 4.1E-09 0.628 0.692
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
CACNA1G O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 1.00 0.590 0.577
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
DPYD Q12882 dihydropyrimidine dehydrogenase Enzyme 3.4E-22 0.493 0.846
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846
EXOSC2 Q13868 exosome component 2 Enzyme 2.9E-06 0.711 0.462
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
GATA4 P43694 GATA binding protein 4 0.49 0.458 0.846
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
HDAC4 P56524 histone deacetylase 4 Epigenetic regulator 1.00 0.484 0.885
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
IGF1R P08069 insulin like growth factor 1 receptor Kinase 0.97 0.399 0.885
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
MAPK8IP3 Q9UPT6 mitogen-activated protein kinase 8 interacting protein 3 Enzyme modulator 1.00 0.682 0.462
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
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
MEIS2 O14770 Meis homeobox 2 Enzyme 1.00 0.601 0.808
OCRL Q01968 OCRL inositol polyphosphate-5-phosphatase Enzyme 1.00 0.553 0.731
PIGY Q3MUY2 phosphatidylinositol glycan anchor biosynthesis class Y 9.7E-02 0.628 0.577