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: 54903
Gene Symbol: MKS1
MKS1
Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 231 0.505 0.769 3.4E-16 0.800 None 0.929 28 32 1969 2019
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.400 None 1.000 16 0 2002 2019
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.400 None 1.000 12 0 2007 2020
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
Q68CZ1 RPGRIP1 like Enzyme modulator 170 0.534 0.769 4.1E-31 0.370 None 1.000 8 0 2007 2015
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
Q9P2K1 coiled-coil and C2 domain containing 2A 167 0.532 0.692 1.7E-27 0.370 None 1.000 7 0 2008 2019
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
Q9UPM9 B9 domain containing 1 Extracellular structure 107 0.572 0.692 2.8E-03 0.340 limited 1.000 4 0 2011 2016
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
Q9H6L2 transmembrane protein 231 132 0.554 0.692 3.1E-07 0.330 None 1.000 4 0 2012 2019
Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2
Q96GX1 tectonic family member 2 109 0.578 0.654 1.8E-14 0.320 None 1.000 4 0 2011 2018
Entrez Id: 79770
Gene Symbol: TXNDC15
TXNDC15
Q96J42 thioredoxin domain containing 15 22 0.736 0.615 9.6E-03 0.320 None 1.000 3 0 2016 2019
Entrez Id: 80776
Gene Symbol: B9D2
B9D2
Q9BPU9 B9 domain containing 2 Extracellular structure 66 0.606 0.577 5.3E-05 0.320 None 0.667 3 1 2011 2019
Entrez Id: 84314
Gene Symbol: TMEM107
TMEM107
Q6UX40 transmembrane protein 107 83 0.592 0.692 3.1E-08 0.310 moderate 1.000 2 0 2014 2016
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
Q9P0N5 transmembrane protein 216 154 0.544 0.615 1.9E-03 0.310 None 1.000 2 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 0.310 limited 1.000 1 0 2011 2011
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
Q1MSJ5 centrosome and spindle pole associated protein 1 170 0.544 0.769 3.3E-29 0.300 None 1.000 3 0 2014 2014
Entrez Id: 51057
Gene Symbol: WDPCP
WDPCP
O95876 WD repeat containing planar cell polarity effector 105 0.576 0.769 1.1E-10 0.300 strong 1.000 1 0 2010 2010
Entrez Id: 219844
Gene Symbol: HYLS1
HYLS1
Q96M11 HYLS1 centriolar and ciliogenesis associated 119 0.572 0.692 2.3E-09 0.300 None 0 0
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
Q7Z494 nephrocystin 3 93 0.597 0.654 9.8E-16 0.300 limited 0 0
Entrez Id: 9928
Gene Symbol: KIF14
KIF14
Q15058 kinesin family member 14 Cellular structure 103 0.578 0.654 4.1E-05 0.300 None 0 0
Entrez Id: 4025
Gene Symbol: LPO
LPO
P22079 lactoperoxidase Enzyme 32 0.678 0.577 7.5E-17 0.100 None 1.000 2 7 2006 2007
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
Q9NPJ1 McKusick-Kaufman syndrome 123 0.566 0.692 2.1E-09 0.080 None 0.750 8 2 2004 2019
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
P15692 vascular endothelial growth factor A Signaling 1899 0.266 0.923 2.4E-05 0.020 None 1.000 2 0 2018 2018
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
O15259 nephrocystin 1 126 0.572 0.731 1.2E-17 0.020 None 1.000 2 0 2007 2012
Entrez Id: 392509
Gene Symbol: ARL13A
ARL13A
Q5H913 ADP ribosylation factor like GTPase 13A 3 0.890 0.308 5.9E-04 0.010 None 1.000 1 0 2013 2013
Entrez Id: 7052
Gene Symbol: TGM2
TGM2
P21980 transglutaminase 2 Enzyme 315 0.445 0.808 6.8E-18 0.010 None 1.000 1 0 2017 2017
Entrez Id: 27130
Gene Symbol: INVS
INVS
Q9Y283 inversin 74 0.619 0.538 5.6E-18 0.010 None 1.000 1 0 2013 2013