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: 54806
Gene Symbol: AHI1
AHI1
Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.010 None 1.000 1 0 2009 2009
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
Q8N2K0 abhydrolase domain containing 12 Enzyme 60 0.666 0.385 1.9E-05 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB
P60709 actin beta Cellular structure 1110 0.325 0.923 0.99 0.010 None 1.000 1 0 2017 2017
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
Q15067 acyl-CoA oxidase 1 Enzyme 95 0.610 0.731 6.2E-02 0.100 None 0 0
Entrez Id: 8754
Gene Symbol: ADAM9
ADAM9
Q13443 ADAM metallopeptidase domain 9 Enzyme 109 0.560 0.654 2.9E-02 0.030 None 1.000 3 0 2009 2014
Entrez Id: 170692
Gene Symbol: ADAMTS18
ADAMTS18
Q8TE60 ADAM metallopeptidase with thrombospondin type 1 motif 18 Enzyme 57 0.636 0.654 1.1E-29 0.010 None 1.000 1 0 2014 2014
Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2
Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 60 0.691 0.346 0.77 0.100 None 0 0
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 0
Entrez Id: 23568
Gene Symbol: ARL2BP
ARL2BP
Q9Y2Y0 ADP ribosylation factor like GTPase 2 binding protein 69 0.647 0.654 3.3E-05 0.110 None 1.000 1 0 2017 2017
Entrez Id: 403
Gene Symbol: ARL3
ARL3
P36405 ADP ribosylation factor like GTPase 3 95 0.603 0.615 1.4E-03 0.110 None 1.000 1 0 2019 2019
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
Q9H0F7 ADP ribosylation factor like GTPase 6 75 0.636 0.462 1.0E-02 0.100 None 0 0
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
Q8TCU4 ALMS1 centrosome and basal body associated protein 147 0.559 0.808 4.5E-60 0.020 None 1.000 2 0 2015 2019
Entrez Id: 196
Gene Symbol: AHR
AHR
P35869 aryl hydrocarbon receptor Transcription factor 532 0.410 0.923 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 0.130 None 1.000 3 0 2010 2015
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
Q99700 ataxin 2 Nucleic acid binding 341 0.482 0.808 0.85 0.100 None 0 0
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
O15265 ataxin 7 162 0.581 0.654 0.96 0.030 None 1.000 3 0 2001 2018
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 1.000 17 3 2000 2017
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 2000 2000
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
P00846 ATP synthase F0 subunit 6 Transporter 226 0.541 0.731 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.100 None 0 0
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Q8TAM1 Bardet-Biedl syndrome 10 63 0.644 0.538 1.7E-12 0.100 None 0 0
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
Q6ZW61 Bardet-Biedl syndrome 12 49 0.674 0.462 2.3E-07 0.100 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.110 None 1.000 1 0 2001 2001
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Q96RK4 Bardet-Biedl syndrome 4 63 0.647 0.615 1.5E-16 0.100 None 0 0
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
Q8N3I7 Bardet-Biedl syndrome 5 51 0.659 0.577 4.8E-06 0.100 None 0 0