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: 22978
Gene Symbol: NT5C2
NT5C2
P49902 5'-nucleotidase, cytosolic II Enzyme 149 0.537 0.846 2.1E-06 0.010 None 1.000 1 0 1998 1998
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.130 None 1.000 3 0 2006 2010
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
Q8N2K0 abhydrolase domain containing 12 Enzyme 60 0.666 0.385 1.9E-05 0.100 None 1.000 1 2 2012 2012
Entrez Id: 50
Gene Symbol: ACO2
ACO2
Q99798 aconitase 2 Enzyme 74 0.619 0.654 0.21 0.100 None 0 0
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
P18850 activating transcription factor 6 179 0.516 0.846 3.2E-07 0.010 None 1.000 1 0 2017 2017
Entrez Id: 91452
Gene Symbol: ACBD5
ACBD5
Q5T8D3 acyl-CoA binding domain containing 5 Enzyme modulator 7 0.931 0.192 6.1E-03 0.030 None 1.000 3 0 2013 2017
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
Q8WXG9 adhesion G protein-coupled receptor V1 G-protein coupled receptor 125 0.572 0.731 3.2E-39 0.100 None 0 1
Entrez Id: 51094
Gene Symbol: ADIPOR1
ADIPOR1
Q96A54 adiponectin receptor 1 Receptor 148 0.529 0.808 0.66 0.010 None 1.000 1 0 2016 2016
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
Q3SXY8 ADP ribosylation factor like GTPase 13B 79 0.631 0.538 2.7E-09 0.100 None 0 1
Entrez Id: 23568
Gene Symbol: ARL2BP
ARL2BP
Q9Y2Y0 ADP ribosylation factor like GTPase 2 binding protein 69 0.647 0.654 3.3E-05 0.100 None 0 1
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
Q9H0F7 ADP ribosylation factor like GTPase 6 75 0.636 0.462 1.0E-02 0.010 None 1.000 1 0 2020 2020
Entrez Id: 131
Gene Symbol: ADH7
ADH7
P40394 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide Enzyme 42 0.656 0.462 1.5E-11 0.010 None 1.000 1 0 2004 2004
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
Q8TCU4 ALMS1 centrosome and basal body associated protein 147 0.559 0.808 4.5E-60 0.100 None 0 1
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
Q96QP1 alpha kinase 1 Kinase 54 0.644 0.615 1.0E-19 0.100 None 1.000 1 1 2019 2019
Entrez Id: 286
Gene Symbol: ANK1
ANK1
P16157 ankyrin 1 166 0.540 0.885 1.00 0.100 None 0 0
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
Q9NZN9 aryl hydrocarbon receptor interacting protein like 1 Chaperone 65 0.644 0.346 1.2E-05 0.010 None 1.000 1 0 2009 2009
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
P78363 ATP binding cassette subfamily A member 4 Transporter 227 0.493 0.769 5.3E-48 0.200 None 0.967 30 35 1997 2019
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
Q9UNQ0 ATP binding cassette subfamily G member 2 (Junior blood group) Transporter 420 0.419 0.885 2.1E-32 0.010 None 1.000 1 0 2001 2001
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.100 None 1.000 2 1 2002 2016
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Q8TAM1 Bardet-Biedl syndrome 10 63 0.644 0.538 1.7E-12 0.100 None 0 1
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
Q6ZW61 Bardet-Biedl syndrome 12 49 0.674 0.462 2.3E-07 0.100 None 0 1
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.100 None 1.000 1 1 2019 2019
Entrez Id: 55212
Gene Symbol: BBS7
BBS7
Q8IWZ6 Bardet-Biedl syndrome 7 47 0.682 0.462 7.1E-09 0.100 None 0 1
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
O76090 bestrophin 1 Ion channel 292 0.465 0.885 1.8E-12 0.130 None 1.000 4 1 2009 2016
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2
Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 124 0.578 0.577 2.8E-07 0.100 None 0 0