Disease: Pallor of optic disc
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCA4 P78363 ATP binding cassette subfamily A member 4 Transporter 5.3E-48 0.493 0.769
AIPL1 Q9NZN9 aryl hydrocarbon receptor interacting protein like 1 Chaperone 1.2E-05 0.644 0.346
ARHGEF18 Q6ZSZ5 Rho/Rac guanine nucleotide exchange factor 18 1.8E-03 0.700 0.308
ARL2BP Q9Y2Y0 ADP ribosylation factor like GTPase 2 binding protein 3.3E-05 0.647 0.654
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
BEST1 O76090 bestrophin 1 Ion channel 1.8E-12 0.465 0.885
C8orf37 Q96NL8 chromosome 8 open reading frame 37 2.4E-05 0.628 0.538
CERKL Q49MI3 ceramide kinase like 9.8E-25 0.678 0.308
CNNM4 Q6P4Q7 cyclin and CBS domain divalent metal cation transport mediator 4 2.9E-07 0.695 0.346
ELOVL1 Q9BW60 ELOVL fatty acid elongase 1 Enzyme 0.68 0.760 0.385
EYS Q5T1H1 eyes shut homolog 3.7E-41 0.631 0.538
FAM161A Q3B820 FAM161 centrosomal protein A 5.1E-13 0.691 0.308
HARS1 P12081 histidyl-tRNA synthetase 1 Enzyme 2.4E-06 0.569 0.808
HK1 P19367 hexokinase 1 Kinase 0.91 0.542 0.731
HLA-A P04439 major histocompatibility complex, class I, A 1.3E-03 0.370 0.846
IDH3B O43837 isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta Enzyme 3.0E-11 0.700 0.462
IFT172 Q9UG01 intraflagellar transport 172 Cellular structure 3.3E-33 0.582 0.654
IMPDH1 P20839 inosine monophosphate dehydrogenase 1 Enzyme 5.8E-06 0.623 0.462
ITM2B Q9Y287 integral membrane protein 2B 0.63 0.617 0.654
KCNJ13 O60928 potassium inwardly rectifying channel subfamily J member 13 Ion channel 1.4E-02 0.659 0.308
LRAT O95237 lecithin retinol acyltransferase 2.8E-02 0.608 0.654
MAK P20794 male germ cell associated kinase Kinase 8.6E-19 0.695 0.346
MERTK Q12866 MER proto-oncogene, tyrosine kinase Kinase 2.7E-11 0.531 0.692
NMNAT1 Q9HAN9 nicotinamide nucleotide adenylyltransferase 1 Enzyme 3.5E-02 0.656 0.269
PDE6A P16499 phosphodiesterase 6A 6.6E-25 0.691 0.269