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: 84100
Gene Symbol: ARL6
ARL6
Q9H0F7 ADP ribosylation factor like GTPase 6 10 0.636 0.462 1.0E-02 0.010 None 1.000 1 0 1999 1999
Entrez Id: 174
Gene Symbol: AFP
AFP
P02771 alpha fetoprotein Transporter 374 0.429 0.885 1.1E-11 0.010 None 1.000 1 0 1989 1989
Entrez Id: 309
Gene Symbol: ANXA6
ANXA6
P08133 annexin A6 147 0.514 0.846 1.1E-08 0.020 None 0.500 2 0 2014 2019
Entrez Id: 84159
Gene Symbol: ARID5B
ARID5B
Q14865 AT-rich interaction domain 5B Transcription factor 34 0.638 0.500 1.00 0.010 None 1.000 1 0 2011 2011
Entrez Id: 472
Gene Symbol: ATM
ATM
Q13315 ATM serine/threonine kinase Kinase 563 0.374 0.885 5.6E-47 0.100 None 1.000 19 0 1997 2018
Entrez Id: 545
Gene Symbol: ATR
ATR
Q13535 ATR serine/threonine kinase Kinase 223 0.456 0.923 3.5E-09 0.020 None 1.000 2 0 2005 2009
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 21 0.593 0.692 3.4E-12 0.020 None 1.000 2 0 1999 2003
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Q8TAM1 Bardet-Biedl syndrome 10 9 0.644 0.538 1.7E-12 0.010 None 1.000 1 0 2006 2006
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
Q6ZW61 Bardet-Biedl syndrome 12 6 0.674 0.462 2.3E-07 0.020 None 1.000 2 0 2010 2017
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 56 0.565 0.654 1.0E-17 0.010 None 1.000 1 0 1999 1999
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Q96RK4 Bardet-Biedl syndrome 4 17 0.647 0.615 1.5E-16 0.010 None 1.000 1 0 1999 1999
Entrez Id: 55212
Gene Symbol: BBS7
BBS7
Q8IWZ6 Bardet-Biedl syndrome 7 4 0.682 0.462 7.1E-09 0.010 None 1.000 1 0 2019 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
P38398 BRCA1 DNA repair associated Enzyme 576 0.367 0.923 9.2E-29 0.030 None 1.000 3 1 2009 2017
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 72 0.507 0.731 6.2E-17 0.010 None 1.000 1 3 2018 2018
Entrez Id: 23468
Gene Symbol: CBX5
CBX5
P45973 chromobox 5 Epigenetic regulator 54 0.621 0.731 0.93 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
P13942 collagen type XI alpha 2 chain 291 0.435 0.846 0.70 0.010 None 1.000 1 0 2012 2012
Entrez Id: 1026
Gene Symbol: CDKN1A
CDKN1A
P38936 cyclin dependent kinase inhibitor 1A 408 0.403 0.769 1.9E-03 0.010 None 1.000 1 0 1997 1997
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
P42771 Q8N726 cyclin dependent kinase inhibitor 2A 1214 0.300 0.885 0.39 0.010 None 1.000 1 0 2011 2011
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
P49917 DNA ligase 4 153 0.478 0.846 4.2E-06 0.030 None 1.000 3 0 2003 2019
Entrez Id: 5429
Gene Symbol: POLH
POLH
Q9Y253 DNA polymerase eta 27 0.663 0.462 3.5E-09 0.010 None 1.000 1 0 2017 2017
Entrez Id: 10721
Gene Symbol: POLQ
POLQ
O75417 DNA polymerase theta Enzyme 32 0.695 0.462 1.3E-82 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
P08246 elastase, neutrophil expressed Enzyme 290 0.447 0.846 1.2E-03 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2078
Gene Symbol: ERG
ERG
P11308 ETS transcription factor ERG Transcription factor 279 0.453 0.808 0.96 0.010 None 1.000 1 0 2014 2014
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
Q8NB91 FA complementation group B 136 0.468 0.769 1.00 0.010 None 1.000 1 0 2006 2006
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
Q9BXW9 FA complementation group D2 146 0.479 0.885 1.1E-30 0.010 None 1.000 1 0 2001 2001