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: 167691
Gene Symbol: LCA5
LCA5
Q86VQ0 lebercilin LCA5 53 0.674 0.269 4.1E-05 0.320 limited 1.000 2 0 2009 2018
Entrez Id: 63929
Gene Symbol: XPNPEP3
XPNPEP3
Q9NQH7 X-prolyl aminopeptidase 3 Enzyme 20 0.769 0.269 1.9E-08 0.320 limited 1.000 2 0 2010 2010
Entrez Id: 57560
Gene Symbol: IFT80
IFT80
Q9P2H3 intraflagellar transport 80 109 0.575 0.692 1.4E-19 0.320 None 1.000 2 0 2018 2019
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
Q96KN7 RPGR interacting protein 1 Enzyme modulator 121 0.553 0.654 1.3E-23 0.320 limited 1.000 2 0 2009 2011
Entrez Id: 22897
Gene Symbol: CEP164
CEP164
Q9UPV0 centrosomal protein 164 33 0.711 0.462 4.8E-27 0.320 strong 1.000 2 0 2012 2014
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
Q9UPM9 B9 domain containing 1 Extracellular structure 107 0.572 0.692 2.8E-03 0.310 limited 1.000 3 0 2011 2016
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
P82279 crumbs cell polarity complex component 1 116 0.570 0.654 5.6E-16 0.310 limited 1.000 1 0 2017 2017
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
Q96Q45 transmembrane protein 237 91 0.612 0.538 1.9E-12 0.310 None 1.000 1 0 2011 2011
Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32
Q13049 tripartite motif containing 32 113 0.587 0.769 1.7E-03 0.310 None 1.000 1 0 2014 2014
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Q96RK4 Bardet-Biedl syndrome 4 63 0.647 0.615 1.5E-16 0.310 None 1.000 1 0 2019 2019
Entrez Id: 27130
Gene Symbol: INVS
INVS
Q9Y283 inversin 74 0.619 0.538 5.6E-18 0.310 None 1.000 1 0 2018 2018
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.310 None 1.000 1 0 2019 2019
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
O75161 nephrocystin 4 46 0.674 0.423 1.7E-29 0.310 None 1.000 1 0 2007 2007
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Q3SYG4 Bardet-Biedl syndrome 9 82 0.615 0.577 4.2E-17 0.310 None 1.000 1 0 2012 2012
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
O75445 usherin Enzyme modulator 119 0.579 0.692 1.6E-94 0.310 limited 1.000 1 0 2009 2009
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
Q9P0N5 transmembrane protein 216 154 0.544 0.615 1.9E-03 0.310 None 1.000 1 0 2012 2012
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
Q8N3I7 Bardet-Biedl syndrome 5 51 0.659 0.577 4.8E-06 0.310 None 1.000 1 0 2019 2019
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
Q9H6L2 transmembrane protein 231 132 0.554 0.692 3.1E-07 0.310 None 1.000 1 0 2013 2013
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
Q86UK5 EvC ciliary complex subunit 2 106 0.585 0.692 1.0E-34 0.310 None 1.000 1 0 2016 2016
Entrez Id: 137392
Gene Symbol: FAM92A
FAM92A
A1XBS5 family with sequence similarity 92 member A 17 0.729 0.308 5.8E-08 0.310 None 1.000 1 0 2019 2019
Entrez Id: 79140
Gene Symbol: CCDC28B
CCDC28B
Q9BUN5 coiled-coil domain containing 28B Receptor 55 0.659 0.538 3.2E-09 0.310 limited 1.000 1 0 2013 2013
Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2
Q96GX1 tectonic family member 2 109 0.578 0.654 1.8E-14 0.310 None 1.000 1 0 2018 2018
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
P07911 uromodulin 164 0.520 0.846 3.1E-17 0.310 None 1.000 1 0 2014 2014
Entrez Id: 84662
Gene Symbol: GLIS2
GLIS2
Q9BZE0 GLIS family zinc finger 2 Transcription factor 67 0.608 0.462 0.86 0.310 None 1.000 1 0 2014 2014
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
O00294 TUB like protein 1 80 0.623 0.462 5.7E-04 0.310 limited 1.000 1 0 2014 2014