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: 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: 90
Gene Symbol: ACVR1
ACVR1
Q04771 activin A receptor type 1 Kinase 144 0.535 0.731 0.33 0.010 None 1.000 1 0 2017 2017
Entrez Id: 93
Gene Symbol: ACVR2B
ACVR2B
Q13705 activin A receptor type 2B Kinase 70 0.601 0.615 0.83 0.300 limited 0 0
Entrez Id: 56999
Gene Symbol: ADAMTS9
ADAMTS9
Q9P2N4 ADAM metallopeptidase with thrombospondin type 1 motif 9 Enzyme 53 0.633 0.692 1.0E-06 0.010 None 1.000 1 0 2019 2019
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 0.300 limited 0 0
Entrez Id: 189
Gene Symbol: AGXT
AGXT
P21549 alanine--glyoxylate and serine--pyruvate aminotransferase Enzyme 94 0.593 0.731 1.2E-07 0.010 None 1.000 1 0 2014 2014
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.340 None 1.000 4 2 2013 2019
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
Q9NZN9 aryl hydrocarbon receptor interacting protein like 1 Chaperone 65 0.644 0.346 1.2E-05 0.300 limited 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 0.030 None 1.000 3 0 2017 2020
Entrez Id: 392509
Gene Symbol: ARL13A
ARL13A
Q5H913 ADP ribosylation factor like GTPase 13A 3 0.890 0.308 5.9E-04 0.010 None 1.000 1 0 2013 2013
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
Q3SXY8 ADP ribosylation factor like GTPase 13B 79 0.631 0.538 2.7E-09 0.340 None 1.000 4 0 2015 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 0.010 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 0.300 None 0 0
Entrez Id: 80210
Gene Symbol: ARMC9
ARMC9
Q7Z3E5 armadillo repeat containing 9 80 0.612 0.731 6.2E-17 0.020 None 1.000 2 0 2017 2018
Entrez Id: 465
Gene Symbol: ATD
ATD
asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome) 36 0.656 0.731 0.010 None 1.000 1 0 2013 2013
Entrez Id: 545
Gene Symbol: ATR
ATR
Q13535 ATR serine/threonine kinase Kinase 321 0.456 0.923 3.5E-09 0.010 None 1.000 1 0 2013 2013
Entrez Id: 25814
Gene Symbol: ATXN10
ATXN10
Q9UBB4 ataxin 10 69 0.650 0.385 3.5E-04 0.300 limited 0 0
Entrez Id: 10678
Gene Symbol: B3GNT2
B3GNT2
Q9NY97 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 Enzyme 20 0.705 0.500 0.89 0.010 None 1.000 1 0 2016 2016
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1
O43505 beta-1,4-glucuronyltransferase 1 84 0.590 0.538 6.9E-03 0.010 None 1.000 1 0 2016 2016
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
Q9UPM9 B9 domain containing 1 Extracellular structure 107 0.572 0.692 2.8E-03 0.310 limited 1.000 3 0 2011 2016
Entrez Id: 80776
Gene Symbol: B9D2
B9D2
Q9BPU9 B9 domain containing 2 Extracellular structure 66 0.606 0.577 5.3E-05 0.300 None 1.000 2 0 2011 2015
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.310 None 1.000 1 0 2019 2019
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Q8TAM1 Bardet-Biedl syndrome 10 63 0.644 0.538 1.7E-12 0.300 None 0 0
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
Q6ZW61 Bardet-Biedl syndrome 12 49 0.674 0.462 2.3E-07 0.300 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.360 None 1.000 6 0 2011 2019