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: 51095
Gene Symbol: TRNT1
TRNT1 		Q96Q11 tRNA nucleotidyl transferase 1 40 0.700 0.192 1.6E-04 0.050 None 1.000 5 0 2016 2019
Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7 		Q9P0W8 spermatogenesis associated 7 56 0.656 0.385 5.2E-13 0.650 strong 1.000 5 1 2009 2018
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		Q96QU1 protocadherin related 15 94 0.601 0.577 8.0E-25 0.050 None 1.000 5 1 2001 2014
Entrez Id: 10280
Gene Symbol: SIGMAR1
SIGMAR1 		Q99720 sigma non-opioid intracellular receptor 1 190 0.544 0.808 0.17 0.040 None 1.000 4 0 2017 2019
Entrez Id: 115861
Gene Symbol: NXNL1
NXNL1 		Q96CM4 nucleoredoxin like 1 5 1.000 0.077 1.2E-02 0.040 None 1.000 4 0 2004 2015
Entrez Id: 1270
Gene Symbol: CNTF
CNTF 		P26441 ciliary neurotrophic factor 114 0.561 0.615 2.3E-05 0.040 None 1.000 4 0 2001 2015
Entrez Id: 403
Gene Symbol: ARL3
ARL3 		P36405 ADP ribosylation factor like GTPase 3 95 0.603 0.615 1.4E-03 0.340 None 1.000 4 0 2006 2019
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		Q9H251 cadherin related 23 203 0.539 0.769 3.2E-06 0.130 None 1.000 4 4 2002 2019
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1 		Q15051 IQ motif containing B1 69 0.641 0.654 1.4E-12 0.130 None 1.000 4 2 2005 2019
Entrez Id: 23568
Gene Symbol: ARL2BP
ARL2BP 		Q9Y2Y0 ADP ribosylation factor like GTPase 2 binding protein 69 0.647 0.654 3.3E-05 0.430 None 1.000 3 1 2013 2019
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4 		O75161 nephrocystin 4 46 0.674 0.423 1.7E-29 0.030 None 1.000 3 0 2002 2005
Entrez Id: 2979
Gene Symbol: GUCA1B
GUCA1B 		Q9UMX6 guanylate cyclase activator 1B 41 0.682 0.423 2.1E-04 0.520 strong 1.000 3 2 2004 2011
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		Q9Y617 phosphoserine aminotransferase 1 285 0.478 0.846 1.1E-08 0.030 None 1.000 3 0 2013 2019
Entrez Id: 4658
Gene Symbol: MYP2
MYP2 		myopia 2 (high grade, autosomal dominant) 38 0.659 0.308 0.030 None 1.000 3 0 2016 2019
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1 		Q9BUK6 misato mitochondrial distribution and morphology regulator 1 124 0.582 0.692 1.6E-09 0.130 None 1.000 3 0 2018 2020
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7 		Q8IXQ5 kelch like family member 7 135 0.581 0.731 4.6E-05 0.430 strong 1.000 3 4 2009 2017
Entrez Id: 5627
Gene Symbol: PROS1
PROS1 		P07225 protein S 283 0.467 0.846 4.7E-04 0.030 None 1.000 3 0 2013 2019
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.420 None 1.000 3 4 2015 2019
Entrez Id: 6120
Gene Symbol: RPE
RPE 		Q96AT9 ribulose-5-phosphate-3-epimerase 90 0.575 0.538 2.5E-04 0.030 None 1.000 3 1 2001 2016
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		Q9H0F7 ADP ribosylation factor like GTPase 6 75 0.636 0.462 1.0E-02 0.610 strong 1.000 3 1 2009 2013
Entrez Id: 1104
Gene Symbol: RCC1
RCC1 		P18754 regulator of chromosome condensation 1 34 0.686 0.538 0.93 0.020 None 1.000 2 0 2005 2010
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT 		Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 108 0.628 0.577 6.3E-08 0.420 None 1.000 2 2 2015 2017
Entrez Id: 166379
Gene Symbol: BBS12
BBS12 		Q6ZW61 Bardet-Biedl syndrome 12 49 0.674 0.462 2.3E-07 0.110 None 1.000 2 1 2016 2019
Entrez Id: 167691
Gene Symbol: LCA5
LCA5 		Q86VQ0 lebercilin LCA5 53 0.674 0.269 4.1E-05 0.020 None 1.000 2 0 2013 2014
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		P54259 atrophin 1 499 0.409 0.885 1.00 0.020 None 1.000 2 1 2017 2019