Disease: Downward slant of palpebral fissure
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
SYP P08247 synaptophysin Transporter 0.92 0.481 0.808
USP27X A6NNY8 ubiquitin specific peptidase 27 X-linked 0.92 0.705 0.462
PHOX2B Q99453 paired like homeobox 2B 0.94 0.565 0.731
CXorf56 Q9H5V9 chromosome X open reading frame 56 0.95 0.705 0.385
ZNF711 Q9Y462 zinc finger protein 711 0.98 0.691 0.423
ACSL4 O60488 acyl-CoA synthetase long chain family member 4 Enzyme 0.98 0.561 0.769
PTCHD1 Q96NR3 patched domain containing 1 Receptor 0.98 0.678 0.385
UPF3B Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 0.98 0.619 0.615
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
PAK3 O75914 p21 (RAC1) activated kinase 3 Kinase 0.99 0.569 0.731
FTSJ1 Q9UET6 FtsJ RNA 2'-O-methyltransferase 1 0.99 0.659 0.577
SLC9A7 Q96T83 solute carrier family 9 member A7 Transporter 0.99 0.695 0.577
GDI1 P31150 GDP dissociation inhibitor 1 Enzyme 0.99 0.572 0.654
IL1RAPL1 Q9NZN1 interleukin 1 receptor accessory protein like 1 Receptor 1.00 0.617 0.692
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
CNKSR2 Q8WXI2 connector enhancer of kinase suppressor of Ras 2 1.00 0.628 0.538
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
ARHGEF6 Q15052 Rac/Cdc42 guanine nucleotide exchange factor 6 1.00 0.678 0.462
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577