Disease: Retinal Dystrophies
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
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808
ARL13B Q3SXY8 ADP ribosylation factor like GTPase 13B 2.7E-09 0.631 0.538
BBS12 Q6ZW61 Bardet-Biedl syndrome 12 2.3E-07 0.674 0.462
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
CHM P24386 CHM Rab escort protein Enzyme 1.00 0.592 0.654
CLRN1 P58418 clarin 1 1.7E-08 0.633 0.423
COL18A1 P39060 collagen type XVIII alpha 1 chain 1.7E-10 0.449 0.808
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
CRX O43186 cone-rod homeobox Transcription factor 0.51 0.565 0.692
ERG P11308 ETS transcription factor ERG Transcription factor 0.96 0.453 0.808
EYS Q5T1H1 eyes shut homolog 3.7E-41 0.631 0.538
GUCY2D Q02846 guanylate cyclase 2D, retinal Kinase 6.5E-10 0.570 0.769
IMPG2 Q9BZV3 interphotoreceptor matrix proteoglycan 2 Extracellular structure 2.8E-13 0.659 0.308
LRP2 P98164 LDL receptor related protein 2 1.00 0.491 0.846
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
NR2E3 Q9Y5X4 nuclear receptor subfamily 2 group E member 3 Nuclear receptor 0.603 0.500
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
PROM1 O43490 prominin 1 Transporter 1.9E-22 0.410 0.846
PRPH P41219 peripherin 4.8E-14 0.623 0.462
PRPH2 P23942 peripherin 2 0.12 0.551 0.500