Disease: Retinal Dystrophies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
RS1 O15537 retinoschisin 1 Enzyme 0.96 0.686 0.500
CRX O43186 cone-rod homeobox Transcription factor 0.51 0.565 0.692
PROM1 O43490 prominin 1 Transporter 1.9E-22 0.410 0.846
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
RBP3 P10745 retinol binding protein 3 1.1E-04 0.621 0.500
ERG P11308 ETS transcription factor ERG Transcription factor 0.96 0.453 0.808
PRPH2 P23942 peripherin 2 0.12 0.551 0.500
CHM P24386 CHM Rab escort protein Enzyme 1.00 0.592 0.654
COL18A1 P39060 collagen type XVIII alpha 1 chain 1.7E-10 0.449 0.808
PRPH P41219 peripherin 4.8E-14 0.623 0.462
CLRN1 P58418 clarin 1 1.7E-08 0.633 0.423
ABCA4 P78363 ATP binding cassette subfamily A member 4 Transporter 5.3E-48 0.493 0.769
LRP2 P98164 LDL receptor related protein 2 1.00 0.491 0.846
GUCY2D Q02846 guanylate cyclase 2D, retinal Kinase 6.5E-10 0.570 0.769
MERTK Q12866 MER proto-oncogene, tyrosine kinase Kinase 2.7E-11 0.531 0.692
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
RPE65 Q16518 retinoid isomerohydrolase RPE65 Enzyme 6.5E-14 0.417 0.808
TST Q16762 thiosulfate sulfurtransferase Enzyme 7.9E-05 0.588 0.654
ARL13B Q3SXY8 ADP ribosylation factor like GTPase 13B 2.7E-09 0.631 0.538
EYS Q5T1H1 eyes shut homolog 3.7E-41 0.631 0.538
BBS12 Q6ZW61 Bardet-Biedl syndrome 12 2.3E-07 0.674 0.462