Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
ABCA4 P78363 ATP binding cassette subfamily A member 4 Transporter 5.3E-48 0.493 0.769
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385
PRPH2 P23942 peripherin 2 0.12 0.551 0.500
RPGR Q92834 retinitis pigmentosa GTPase regulator 1.00 0.536 0.692
ARL6 Q9H0F7 ADP ribosylation factor like GTPase 6 1.0E-02 0.636 0.462
CERKL Q49MI3 ceramide kinase like 9.8E-25 0.678 0.308
CNGA3 Q16281 cyclic nucleotide gated channel subunit alpha 3 Ion channel 8.0E-20 0.650 0.154
GUCY2D Q02846 guanylate cyclase 2D, retinal Kinase 6.5E-10 0.570 0.769
BBS5 Q8N3I7 Bardet-Biedl syndrome 5 4.8E-06 0.659 0.577
NMNAT1 Q9HAN9 nicotinamide nucleotide adenylyltransferase 1 Enzyme 3.5E-02 0.656 0.269
RAB28 P51157 RAB28, member RAS oncogene family 2.5E-02 0.792 0.077
CABP4 P57796 calcium binding protein 4 1.7E-10 0.711 0.154
CFAP410 O43822 cilia and flagella associated protein 410 3.3E-07 0.633 0.615
CNNM4 Q6P4Q7 cyclin and CBS domain divalent metal cation transport mediator 4 2.9E-07 0.695 0.346