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: 472
Gene Symbol: ATM
ATM
Q13315 ATM serine/threonine kinase Kinase 684 0.374 0.885 5.6E-47 0.100 None 1.000 19 0 1997 2018
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
P49959 MRE11 homolog, double strand break repair nuclease 171 0.527 0.808 1.3E-12 0.100 None 1.000 16 0 1999 2017
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
Q92878 RAD50 double strand break repair protein 110 0.556 0.808 3.4E-27 0.100 None 1.000 10 0 1998 2018
Entrez Id: 4830
Gene Symbol: NME1
NME1
P15531 NME/NM23 nucleoside diphosphate kinase 1 Kinase 329 0.443 0.808 3.2E-03 0.060 None 1.000 6 0 1997 2019
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
Q9NPJ1 McKusick-Kaufman syndrome 123 0.566 0.692 2.1E-09 0.040 None 1.000 4 0 2003 2017
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
P49917 DNA ligase 4 293 0.478 0.846 4.2E-06 0.030 None 1.000 3 0 2003 2019
Entrez Id: 309
Gene Symbol: ANXA6
ANXA6
P08133 annexin A6 156 0.514 0.846 1.1E-08 0.020 None 0.500 2 0 2014 2019
Entrez Id: 4609
Gene Symbol: MYC
MYC
P01106 MYC proto-oncogene, bHLH transcription factor Transcription factor 821 0.344 0.923 1.00 0.020 None 1.000 2 0 2003 2019
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
P18887 X-ray repair cross complementing 1 410 0.421 0.923 6.3E-09 0.020 None 1.000 2 0 2004 2007
Entrez Id: 2547
Gene Symbol: XRCC6
XRCC6
P12956 X-ray repair cross complementing 6 Enzyme 119 0.552 0.769 1.00 0.020 None 0.500 2 0 2010 2018
Entrez Id: 7517
Gene Symbol: XRCC3
XRCC3
O43542 X-ray repair cross complementing 3 184 0.505 0.769 1.9E-10 0.020 None 1.000 2 0 2004 2008
Entrez Id: 23423
Gene Symbol: TMED3
TMED3
Q9Y3Q3 transmembrane p24 trafficking protein 3 Transporter 21 0.736 0.462 2.3E-02 0.020 None 0.500 2 0 2014 2019
Entrez Id: 23411
Gene Symbol: SIRT1
SIRT1
Q96EB6 sirtuin 1 Epigenetic regulator 675 0.378 0.885 8.7E-02 0.020 None 0.500 2 0 2010 2013
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.020 None 1.000 2 0 1999 2003
Entrez Id: 84959
Gene Symbol: UBASH3B
UBASH3B
Q8TF42 ubiquitin associated and SH3 domain containing B 104 0.561 0.769 4.7E-05 0.020 None 0.500 2 0 2014 2019
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
Q00987 MDM2 proto-oncogene Nucleic acid binding 702 0.362 0.846 1.00 0.020 None 1.000 2 0 2008 2010
Entrez Id: 545
Gene Symbol: ATR
ATR
Q13535 ATR serine/threonine kinase Kinase 321 0.456 0.923 3.5E-09 0.020 None 1.000 2 0 2005 2009
Entrez Id: 115482719
Gene Symbol: H3P22
H3P22
H3 histone pseudogene 22 5 0.861 0.231 0.020 None 0.500 2 0 2014 2019
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
Q6ZW61 Bardet-Biedl syndrome 12 49 0.674 0.462 2.3E-07 0.020 None 1.000 2 0 2010 2017
Entrez Id: 142
Gene Symbol: PARP1
PARP1
P09874 poly(ADP-ribose) polymerase 1 565 0.389 0.923 3.3E-04 0.020 None 1.000 2 0 2012 2018
Entrez Id: 642559
Gene Symbol: POU5F1P3
POU5F1P3
POU class 5 homeobox 1 pseudogene 3 285 0.452 0.808 0.010 None 1.000 1 0 2019 2019
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Q96RK4 Bardet-Biedl syndrome 4 63 0.647 0.615 1.5E-16 0.010 None 1.000 1 0 1999 1999
Entrez Id: 5893
Gene Symbol: RAD52
RAD52
P43351 RAD52 homolog, DNA repair protein Nucleic acid binding 63 0.610 0.654 7.1E-11 0.010 None 1.000 1 0 2003 2003
Entrez Id: 57534
Gene Symbol: MIB1
MIB1
Q86YT6 mindbomb E3 ubiquitin protein ligase 1 Enzyme 329 0.438 0.769 3.4E-88 0.010 None 1.000 1 0 2012 2012
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.010 None 1.000 1 0 1999 1999