Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
O75197 LDL receptor related protein 5 283 0.485 0.846 0.51 0.120 None 1.000 2 0 2008 2015
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.110 None 1.000 1 1 2015 2015
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
Q16518 retinoid isomerohydrolase RPE65 Enzyme 431 0.417 0.808 6.5E-14 0.110 None 1.000 1 1 2019 2019
Entrez Id: 343035
Gene Symbol: RD3
RD3
Q7Z3Z2 retinal degeneration 3, GUCY2D regulator 36 0.700 0.308 2.6E-05 0.110 None 1.000 1 0 2019 2019
Entrez Id: 471
Gene Symbol: ATIC
ATIC
P31939 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Enzyme 100 0.576 0.731 3.0E-19 0.110 None 1.000 1 0 2004 2004
Entrez Id: 1757
Gene Symbol: SARDH
SARDH
Q9UL12 sarcosine dehydrogenase Enzyme 166 0.523 0.846 5.3E-16 0.100 None 0 0
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
Q13426 X-ray repair cross complementing 4 192 0.528 0.769 8.3E-07 0.100 None 0 0
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
O95237 lecithin retinol acyltransferase 84 0.608 0.654 2.8E-02 0.100 None 0 0
Entrez Id: 286053
Gene Symbol: NSMCE2
NSMCE2
Q96MF7 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase 50 0.682 0.615 3.8E-02 0.100 None 0 0
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
Q02846 guanylate cyclase 2D, retinal Kinase 121 0.570 0.769 6.5E-10 0.020 None 1.000 2 0 2016 2018
Entrez Id: 4693
Gene Symbol: NDP
NDP
Q00604 norrin cystine knot growth factor NDP 142 0.566 0.692 0.65 0.020 None 1.000 2 0 1995 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.010 None 1.000 1 1 2011 2011
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
P20839 inosine monophosphate dehydrogenase 1 Enzyme 72 0.623 0.462 5.8E-06 0.010 None 1.000 1 0 2010 2010
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
Q96KN7 RPGR interacting protein 1 Enzyme modulator 121 0.553 0.654 1.3E-23 0.010 None 1.000 1 0 2005 2005
Entrez Id: 23554
Gene Symbol: TSPAN12
TSPAN12
O95859 tetraspanin 12 44 0.656 0.500 0.69 0.010 None 1.000 1 0 2012 2012
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
Q9ULV1 frizzled class receptor 4 G-protein coupled receptor 239 0.490 0.923 0.97 0.010 None 1.000 1 0 2012 2012