Disease: Downward slant of palpebral fissure
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
DMD P11532 dystrophin 1.00 0.423 0.923
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
SYP P08247 synaptophysin Transporter 0.92 0.481 0.808
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
AGTR2 P50052 angiotensin II receptor type 2 G-protein coupled receptor 8.2E-03 0.496 0.808
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
NSD2 O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 1.00 0.507 0.769
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ZMPSTE24 O75844 zinc metallopeptidase STE24 Enzyme 8.9E-16 0.517 0.731
NECTIN1 Q15223 nectin cell adhesion molecule 1 6.1E-02 0.523 0.808
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
FLCN Q8NFG4 folliculin 0.79 0.537 0.885
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
DLG3 Q92796 discs large MAGUK scaffold protein 3 1.00 0.544 0.615