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: 56476
Gene Symbol: ABCB10P1
ABCB10P1 		ABCB10 pseudogene 1 9 0.839 0.231 0.010 None 1.000 1 0 2017 2017
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 1999 1999
Entrez Id: 100
Gene Symbol: ADA
ADA 		P00813 adenosine deaminase Enzyme 379 0.440 0.885 2.9E-12 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1 		Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 106 0.590 0.654 5.3E-10 0.100 None 0 1
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B 		Q3SXY8 ADP ribosylation factor like GTPase 13B 79 0.631 0.538 2.7E-09 0.010 None 1.000 1 0 2019 2019
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 64 0.644 0.500 5.0E-17 0.010 None 1.000 1 0 2018 2018
Entrez Id: 79868
Gene Symbol: ALG13
ALG13 		Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 98 0.631 0.577 1.00 0.100 None 0 1
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: 3425
Gene Symbol: IDUA
IDUA 		P35475 alpha-L-iduronidase Enzyme 258 0.499 0.846 3.8E-13 0.010 None 1.000 1 0 2019 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4 		P55087 aquaporin 4 Ion channel 311 0.456 0.885 2.3E-03 0.010 None 1.000 1 0 2017 2017
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1 		Q9NZN9 aryl hydrocarbon receptor interacting protein like 1 Chaperone 65 0.644 0.346 1.2E-05 0.030 None 1.000 3 0 2004 2009
Entrez Id: 440
Gene Symbol: ASNS
ASNS 		P08243 asparagine synthetase (glutamine-hydrolyzing) Enzyme 90 0.595 0.692 9.4E-06 0.010 None 1.000 1 0 2019 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 0.100 None 0 1
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1 		P54253 ataxin 1 218 0.534 0.769 0.97 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		Q99700 ataxin 2 Nucleic acid binding 341 0.482 0.808 0.85 0.010 None 1.000 1 0 2005 2005
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3 		P54252 ataxin 3 Enzyme 207 0.521 0.808 0.11 0.010 None 1.000 1 0 2005 2005
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7 		O15265 ataxin 7 162 0.581 0.654 0.96 0.030 None 1.000 3 0 2005 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		P78363 ATP binding cassette subfamily A member 4 Transporter 227 0.493 0.769 5.3E-48 0.100 None 0 3
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: 27241
Gene Symbol: BBS9
BBS9 		Q3SYG4 Bardet-Biedl syndrome 9 82 0.615 0.577 4.2E-17 0.100 None 0 1
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		Q9H251 cadherin related 23 203 0.539 0.769 3.2E-06 0.010 None 1.000 1 0 2011 2011
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG 		P29965 CD40 ligand Signaling 453 0.414 0.846 0.72 0.010 None 1.000 1 0 2005 2005
Entrez Id: 11190
Gene Symbol: CEP250
CEP250 		Q9BV73 centrosomal protein 250 Enzyme modulator 13 0.792 0.192 9.4E-33 0.010 None 1.000 1 0 2018 2018
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.010 None 1.000 1 0 2011 2011
Entrez Id: 84131
Gene Symbol: CEP78
CEP78 		Q5JTW2 centrosomal protein 78 40 0.686 0.346 6.2E-12 0.010 None 1.000 1 0 2016 2016