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: 100526830
Gene Symbol: SLX1A-SULT1A3
SLX1A-SULT1A3 		SLX1A-SULT1A3 readthrough (NMD candidate) 11 0.821 0.346 0.010 None 1.000 1 0 2019 2019
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2 		Q8N7E2 Cbl proto-oncogene like 2 Enzyme 235 0.476 0.808 0.010 None 1.000 1 0 2006 2006
Entrez Id: 359809
Gene Symbol: PEG13
PEG13 		paternally expressed 13 3 0.931 0.154 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5175
Gene Symbol: PECAM1
PECAM1 		P16284 platelet and endothelial cell adhesion molecule 1 Cell adhesion 396 0.426 0.846 0.010 None 1.000 1 0 2007 2007
Entrez Id: 644059
Gene Symbol: PYY3
PYY3 		Q5JQD4 peptide YY 3 (pseudogene) 3 0.890 0.192 0.010 None 1.000 1 0 2013 2013
Entrez Id: 907
Gene Symbol: CCT
CCT 		cataract, congenital, total 75 0.588 0.769 0.010 None 1.000 1 0 2010 2010
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.500 None 1.000 10 1 2008 2019
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1 		Q8TCU4 ALMS1 centrosome and basal body associated protein 147 0.559 0.808 4.5E-60 0.330 strong 1.000 4 0 2011 2017
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		Q13402 myosin VIIA Cellular structure 104 0.585 0.423 1.6E-38 0.010 None 1.000 1 0 1999 1999
Entrez Id: 140469
Gene Symbol: MYO3B
MYO3B 		Q8WXR4 myosin IIIB Kinase 8 0.861 0.192 2.0E-36 0.010 None 1.000 1 0 2002 2002
Entrez Id: 26160
Gene Symbol: IFT172
IFT172 		Q9UG01 intraflagellar transport 172 Cellular structure 123 0.582 0.654 3.3E-33 0.330 None 1.000 3 0 2015 2019
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 2020 2020
Entrez Id: 22897
Gene Symbol: CEP164
CEP164 		Q9UPV0 centrosomal protein 164 33 0.711 0.462 4.8E-27 0.010 None 1.000 1 0 2016 2016
Entrez Id: 221322
Gene Symbol: TBC1D32
TBC1D32 		Q96NH3 TBC1 domain family member 32 14 0.743 0.462 8.0E-27 0.200 None 0 0
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.310 None 1.000 1 0 2008 2008
Entrez Id: 2875
Gene Symbol: GPT
GPT 		P24298 glutamic--pyruvic transaminase Enzyme 511 0.403 0.923 3.6E-19 0.010 None 1.000 1 0 2018 2018
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
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.400 None 0.976 82 20 1998 2019
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1 		O15259 nephrocystin 1 126 0.572 0.731 1.2E-17 0.320 None 1.000 2 1 2014 2017
Entrez Id: 27241
Gene Symbol: BBS9
BBS9 		Q3SYG4 Bardet-Biedl syndrome 9 82 0.615 0.577 4.2E-17 0.180 None 1.000 9 17 2005 2019
Entrez Id: 7442
Gene Symbol: TRPV1
TRPV1 		Q8NER1 transient receptor potential cation channel subfamily V member 1 Ion channel 404 0.446 0.885 1.0E-16 0.010 None 1.000 1 0 2007 2007
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		Q96RK4 Bardet-Biedl syndrome 4 63 0.647 0.615 1.5E-16 0.400 None 1.000 30 17 1997 2019
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 231 0.505 0.769 3.4E-16 0.740 None 1.000 5 2 2004 2012
Entrez Id: 5108
Gene Symbol: PCM1
PCM1 		Q15154 pericentriolar material 1 44 0.644 0.615 3.7E-16 0.010 None 1.000 1 0 2004 2004
Entrez Id: 22994
Gene Symbol: CEP131
CEP131 		Q9UPN4 centrosomal protein 131 16 0.760 0.385 7.4E-16 0.010 None 1.000 1 0 2014 2014