Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
ABCA4 P78363 ATP binding cassette subfamily A member 4 Transporter 5.3E-48 0.493 0.769
PRPH2 P23942 peripherin 2 0.12 0.551 0.500
RPGR Q92834 retinitis pigmentosa GTPase regulator 1.00 0.536 0.692
PROM1 O43490 prominin 1 Transporter 1.9E-22 0.410 0.846
CERKL Q49MI3 ceramide kinase like 9.8E-25 0.678 0.308
CNGB3 Q9NQW8 cyclic nucleotide gated channel subunit beta 3 Ion channel 7.8E-19 0.633 0.192
BEST1 O76090 bestrophin 1 Ion channel 1.8E-12 0.465 0.885
CRB1 P82279 crumbs cell polarity complex component 1 5.6E-16 0.570 0.654
PCARE A6NGG8 photoreceptor cilium actin regulator 3.0E-18 0.674 0.346
CRX O43186 cone-rod homeobox Transcription factor 0.51 0.565 0.692
RP2 O75695 RP2 activator of ARL3 GTPase Enzyme 0.96 0.670 0.346
COL18A1 P39060 collagen type XVIII alpha 1 chain 1.7E-10 0.449 0.808
SLC19A1 P41440 solute carrier family 19 member 1 Transporter 6.5E-06 0.523 0.692
EFEMP1 Q12805 EGF containing fibulin extracellular matrix protein 1 Extracellular structure 1.00 0.540 0.769
IMPG2 Q9BZV3 interphotoreceptor matrix proteoglycan 2 Extracellular structure 2.8E-13 0.659 0.308
CNGA1 P29973 cyclic nucleotide gated channel subunit alpha 1 Ion channel 2.8E-11 0.695 0.269
NIPAL1 Q6NVV3 NIPA like domain containing 1 Transporter 2.5E-10 0.760 0.346
RAB28 P51157 RAB28, member RAS oncogene family 2.5E-02 0.792 0.077
EYS Q5T1H1 eyes shut homolog 3.7E-41 0.631 0.538
GUCA1A P43080 guanylate cyclase activator 1A 4.1E-04 0.647 0.500
ATF6 P18850 activating transcription factor 6 3.2E-07 0.516 0.846
CDH3 P22223 cadherin 3 2.8E-10 0.560 0.615
IMPG1 Q17R60 interphotoreceptor matrix proteoglycan 1 Extracellular structure 1.4E-29 0.722 0.154