Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692 41 324
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769 41 96
ABCA4 P78363 ATP binding cassette subfamily A member 4 Transporter 5.3E-48 0.493 0.769 30 247
TULP1 O00294 TUB like protein 1 5.7E-04 0.623 0.462 19 12
RPGRIP1 Q96KN7 RPGR interacting protein 1 Enzyme modulator 1.3E-23 0.553 0.654 12 34
CNGB3 Q9NQW8 cyclic nucleotide gated channel subunit beta 3 Ion channel 7.8E-19 0.633 0.192 11 99
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846 11 54
GUCY2D Q02846 guanylate cyclase 2D, retinal Kinase 6.5E-10 0.570 0.769 11 25
IQCB1 Q15051 IQ motif containing B1 1.4E-12 0.641 0.654 11 20
NR2E3 Q9Y5X4 nuclear receptor subfamily 2 group E member 3 Nuclear receptor 0.603 0.500 11 14
CRB1 P82279 crumbs cell polarity complex component 1 5.6E-16 0.570 0.654 10 52
RPE65 Q16518 retinoid isomerohydrolase RPE65 Enzyme 6.5E-14 0.417 0.808 10 32
NMNAT1 Q9HAN9 nicotinamide nucleotide adenylyltransferase 1 Enzyme 3.5E-02 0.656 0.269 10 15
ZFYVE26 Q68DK2 zinc finger FYVE-type containing 26 4.7E-23 0.636 0.615 9 57
CRX O43186 cone-rod homeobox Transcription factor 0.51 0.565 0.692 7 20
RDH12 Q96NR8 retinol dehydrogenase 12 Enzyme 2.3E-09 0.650 0.308 7 20
RP2 O75695 RP2 activator of ARL3 GTPase Enzyme 0.96 0.670 0.346 7 14
SLC38A8 A6NNN8 solute carrier family 38 member 8 Transporter 3.3E-24 0.743 0.269 6 9
CLUAP1 Q96AJ1 clusterin associated protein 1 4.2E-04 0.805 0.231 6 3
CDHR1 Q96JP9 cadherin related family member 1 2.8E-21 0.670 0.308 5 8
PDE6A P16499 phosphodiesterase 6A 6.6E-25 0.691 0.269 4 13
GIGYF2 Q6Y7W6 GRB10 interacting GYF protein 2 1.00 0.711 0.269 4 12
AIPL1 Q9NZN9 aryl hydrocarbon receptor interacting protein like 1 Chaperone 1.2E-05 0.644 0.346 4 8
LCA5 Q86VQ0 lebercilin LCA5 4.1E-05 0.674 0.269 4 6