Disease: Leber Congenital Amaurosis
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
BCL2 P10415 BCL2 apoptosis regulator Signaling 0.56 0.291 0.885
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
CRB1 P82279 crumbs cell polarity complex component 1 5.6E-16 0.570 0.654
CRB2 Q5IJ48 crumbs cell polarity complex component 2 1.5E-14 0.678 0.269
CRX O43186 cone-rod homeobox Transcription factor 0.51 0.565 0.692
ELOVL4 Q9GZR5 ELOVL fatty acid elongase 4 Enzyme 0.83 0.601 0.577
GDF6 Q6KF10 growth differentiation factor 6 0.99 0.587 0.500
GUCA1A P43080 guanylate cyclase activator 1A 4.1E-04 0.647 0.500
GUCY2D Q02846 guanylate cyclase 2D, retinal Kinase 6.5E-10 0.570 0.769
IMPDH1 P20839 inosine monophosphate dehydrogenase 1 Enzyme 5.8E-06 0.623 0.462
KCNJ13 O60928 potassium inwardly rectifying channel subfamily J member 13 Ion channel 1.4E-02 0.659 0.308
LPCAT1 Q8NF37 lysophosphatidylcholine acyltransferase 1 Enzyme 0.14 0.659 0.577
MEF2A Q02078 myocyte enhancer factor 2A Transcription factor 0.99 0.585 0.692
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
NR2E3 Q9Y5X4 nuclear receptor subfamily 2 group E member 3 Nuclear receptor 0.603 0.500
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808
PDE6A P16499 phosphodiesterase 6A 6.6E-25 0.691 0.269
PDE6B P35913 phosphodiesterase 6B 2.6E-27 0.626 0.346
PNPLA6 Q8IY17 patatin like phospholipase domain containing 6 Enzyme 1.9E-13 0.533 0.769
RD3 Q7Z3Z2 retinal degeneration 3, GUCY2D regulator 2.6E-05 0.700 0.308
RPE65 Q16518 retinoid isomerohydrolase RPE65 Enzyme 6.5E-14 0.417 0.808
RPGR Q92834 retinitis pigmentosa GTPase regulator 1.00 0.536 0.692