Source: ALL
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: 80184
Gene Symbol: CEP290
CEP290 		O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0.947 38 0 2006 2019
Entrez Id: 23418
Gene Symbol: CRB1
CRB1 		P82279 crumbs cell polarity complex component 1 116 0.570 0.654 5.6E-16 0.200 None 0.967 30 6 2001 2019
Entrez Id: 167691
Gene Symbol: LCA5
LCA5 		Q86VQ0 lebercilin LCA5 53 0.674 0.269 4.1E-05 0.100 None 1.000 10 0 2006 2019
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1 		Q15051 IQ motif containing B1 69 0.641 0.654 1.4E-12 0.100 None 0.900 10 0 2011 2019
Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7 		Q9P0W8 spermatogenesis associated 7 56 0.656 0.385 5.2E-13 0.060 None 1.000 6 0 1998 2018
Entrez Id: 7287
Gene Symbol: TULP1
TULP1 		O00294 TUB like protein 1 80 0.623 0.462 5.7E-04 0.140 None 1.000 5 2 2007 2017
Entrez Id: 9227
Gene Symbol: LRAT
LRAT 		O95237 lecithin retinol acyltransferase 84 0.608 0.654 2.8E-02 0.050 None 1.000 5 0 2007 2014
Entrez Id: 286204
Gene Symbol: CRB2
CRB2 		Q5IJ48 crumbs cell polarity complex component 2 42 0.678 0.269 1.5E-14 0.020 None 1.000 2 0 2005 2019
Entrez Id: 343035
Gene Symbol: RD3
RD3 		Q7Z3Z2 retinal degeneration 3, GUCY2D regulator 36 0.700 0.308 2.6E-05 0.020 None 1.000 2 0 2013 2015
Entrez Id: 6120
Gene Symbol: RPE
RPE 		Q96AT9 ribulose-5-phosphate-3-epimerase 90 0.575 0.538 2.5E-04 0.020 None 1.000 2 0 2013 2017
Entrez Id: 10045
Gene Symbol: SH2D3A
SH2D3A 		Q9BRG2 SH2 domain containing 3A 17 0.760 0.423 3.6E-08 0.010 None 1.000 1 0 2016 2016
Entrez Id: 100996465
Gene Symbol: LCA10
LCA10 		lung carcinoma-associated 10 7 0.839 0.308 1.6E-04 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1735
Gene Symbol: DIO3
DIO3 		P55073 iodothyronine deiodinase 3 80 0.593 0.731 0.62 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		P14136 glial fibrillary acidic protein 447 0.421 0.885 1.5E-06 0.010 None 1.000 1 0 2005 2005
Entrez Id: 282809
Gene Symbol: POC1B
POC1B 		Q8TC44 POC1 centriolar protein B 40 0.705 0.385 3.0E-08 0.010 None 1.000 1 0 2014 2014
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A 		P43080 guanylate cyclase activator 1A 55 0.647 0.500 4.1E-04 0.010 None 1.000 1 0 2010 2010
Entrez Id: 2980
Gene Symbol: GUCA2A
GUCA2A 		Q02747 guanylate cyclase activator 2A 45 0.663 0.462 0.29 0.010 None 1.000 1 0 2015 2015
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.010 None 1.000 1 0 2017 2017
Entrez Id: 3569
Gene Symbol: IL6
IL6 		P05231 interleukin 6 2367 0.248 0.962 0.32 0.010 None 1.000 1 0 2019 2019
Entrez Id: 387700
Gene Symbol: SLC16A12
SLC16A12 		Q6ZSM3 solute carrier family 16 member 12 22 0.716 0.385 0.49 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4286
Gene Symbol: MITF
MITF 		O75030 melanocyte inducing transcription factor 244 0.499 0.808 0.98 0.010 None 1.000 1 0 2020 2020
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		P35913 phosphodiesterase 6B 64 0.626 0.346 2.6E-27 0.010 None 1.000 1 0 1992 1992
Entrez Id: 51667
Gene Symbol: NUB1
NUB1 		Q9Y5A7 negative regulator of ubiquitin like proteins 1 11 0.792 0.308 3.9E-04 0.010 None 1.000 1 0 2004 2004
Entrez Id: 54474
Gene Symbol: KRT20
KRT20 		P35900 keratin 20 559 0.388 0.846 9.1E-11 0.010 None 1.000 1 0 2020 2020
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.010 None 1.000 1 0 2010 2010