Source: CLINVAR ×
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: 91147
Gene Symbol: TMEM67
TMEM67 		Q5HYA8 transmembrane protein 67 42 0.512 0.769 2.1E-24 0.630 None 1.000 18 12 2002 2019
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		O15078 centrosomal protein 290 41 0.517 0.769 1.1E-60 0.440 None 1.000 37 43 2006 2019
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 18 0.505 0.769 3.4E-16 0.430 None 1.000 12 11 2006 2017
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		Q9P2K1 coiled-coil and C2 domain containing 2A 15 0.532 0.692 1.7E-27 0.430 None 1.000 11 14 2008 2019
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		Q68CZ1 RPGRIP1 like Enzyme modulator 6 0.534 0.769 4.1E-31 0.420 None 1.000 7 11 2007 2015
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		Q9H6L2 transmembrane protein 231 14 0.554 0.692 3.1E-07 0.420 None 1.000 0 1 2013 2019
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		Q9UPM9 B9 domain containing 1 Extracellular structure 9 0.572 0.692 2.8E-03 0.410 None 1.000 1 1 2011 2016
Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2 		Q96GX1 tectonic family member 2 4 0.578 0.654 1.8E-14 0.410 None 1.000 0 3 2011 2011
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1 		Q1MSJ5 centrosome and spindle pole associated protein 1 2 0.544 0.769 3.3E-29 0.400 None 0 1
Entrez Id: 79770
Gene Symbol: TXNDC15
TXNDC15 		Q96J42 thioredoxin domain containing 15 10 0.736 0.615 9.6E-03 0.110 None 1.000 0 2 2019 2019
Entrez Id: 4025
Gene Symbol: LPO
LPO 		P22079 lactoperoxidase Enzyme 5 0.678 0.577 7.5E-17 0.100 None 1.000 1 1 2007 2007
Entrez Id: 90332
Gene Symbol: EXOC3L2
EXOC3L2 		Q2M3D2 exocyst complex component 3 like 2 Transporter 4 0.722 0.500 0.76 0.100 None 0 1
Entrez Id: 132884
Gene Symbol: EVC2
EVC2 		Q86UK5 EvC ciliary complex subunit 2 6 0.585 0.692 1.0E-34 0.100 None 0 1
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237 		Q96Q45 transmembrane protein 237 3 0.612 0.538 1.9E-12 0.100 None 0 1
Entrez Id: 60412
Gene Symbol: EXOC4
EXOC4 		Q96A65 exocyst complex component 4 Transporter 1 0.743 0.500 3.4E-13 0.100 None 0 1
Entrez Id: 57787
Gene Symbol: MARK4
MARK4 		Q96L34 microtubule affinity regulating kinase 4 Kinase 6 0.641 0.615 1.00 0.100 None 0 1
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138 		Q9NPI0 transmembrane protein 138 5 0.656 0.385 4.7E-02 0.100 None 0 1
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		Q9BVV6 KIAA0586 32 0.565 0.731 5.1E-16 0.100 None 0 1