Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BEST1 O76090 bestrophin 1 Ion channel 1.8E-12 0.465 0.885
IQCB1 Q15051 IQ motif containing B1 1.4E-12 0.641 0.654
NR2E3 Q9Y5X4 nuclear receptor subfamily 2 group E member 3 Nuclear receptor 0.603 0.500
CRB1 P82279 crumbs cell polarity complex component 1 5.6E-16 0.570 0.654
RPE65 Q16518 retinoid isomerohydrolase RPE65 Enzyme 6.5E-14 0.417 0.808
IFT140 Q96RY7 intraflagellar transport 140 Cellular structure 9.9E-24 0.572 0.692
BBS4 Q96RK4 Bardet-Biedl syndrome 4 1.5E-16 0.647 0.615
BBS5 Q8N3I7 Bardet-Biedl syndrome 5 4.8E-06 0.659 0.577
ZFYVE26 Q68DK2 zinc finger FYVE-type containing 26 4.7E-23 0.636 0.615
PCARE A6NGG8 photoreceptor cilium actin regulator 3.0E-18 0.674 0.346
CLRN1-AS1 CLRN1 antisense RNA 1 0.821 0.269
CLRN1 P58418 clarin 1 1.7E-08 0.633 0.423
CRX O43186 cone-rod homeobox Transcription factor 0.51 0.565 0.692
RDH12 Q96NR8 retinol dehydrogenase 12 Enzyme 2.3E-09 0.650 0.308
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
USH1C Q9Y6N9 USH1 protein network component harmonin Cellular structure 4.0E-18 0.628 0.538
IMPG2 Q9BZV3 interphotoreceptor matrix proteoglycan 2 Extracellular structure 2.8E-13 0.659 0.308
CHM P24386 CHM Rab escort protein Enzyme 1.00 0.592 0.654
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
EYS Q5T1H1 eyes shut homolog 3.7E-41 0.631 0.538
NRL P54845 neural retina leucine zipper Transcription factor 4.8E-02 0.647 0.462
CDHR1 Q96JP9 cadherin related family member 1 2.8E-21 0.670 0.308