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: 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: 359809
Gene Symbol: PEG13
PEG13
paternally expressed 13 3 0.931 0.154 0.010 None 1.000 1 0 2017 2017
Entrez Id: 442459
Gene Symbol: XRCC6P5
XRCC6P5
X-ray repair cross complementing 6 pseudogene 5 84 0.579 0.769 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5175
Gene Symbol: PECAM1
PECAM1
P16284 platelet and endothelial cell adhesion molecule 1 Cell adhesion 396 0.426 0.846 0.010 None 1.000 1 0 2007 2007
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: 645682
Gene Symbol: POU5F1P4
POU5F1P4
POU class 5 homeobox 1 pseudogene 4 284 0.452 0.808 0.010 None 1.000 1 0 2019 2019
Entrez Id: 64979
Gene Symbol: MRPL36
MRPL36
Q9P0J6 mitochondrial ribosomal protein L36 13 0.760 0.308 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6962
Gene Symbol: TRBV20OR9-2
TRBV20OR9-2
T cell receptor beta variable 20/OR9-2 (non-functional) 456 0.403 0.923 0.010 None 1.000 1 0 2008 2008
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: 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: 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: 55655
Gene Symbol: NLRP2
NLRP2
Q9NX02 NLR family pyrin domain containing 2 155 0.515 0.731 1.4E-38 0.100 None 0.975 79 2 1999 2019
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
Q9UG01 intraflagellar transport 172 Cellular structure 123 0.582 0.654 3.3E-33 0.010 None 1.000 1 0 2016 2016
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
Q9BXW9 FA complementation group D2 272 0.479 0.885 1.1E-30 0.010 None 1.000 1 0 2001 2001
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
Q8NEM0 microcephalin 1 Nucleic acid binding 141 0.540 0.846 7.8E-30 0.010 None 1.000 1 0 2008 2008
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
P38398 BRCA1 DNA repair associated Enzyme 747 0.367 0.923 9.2E-29 0.030 None 1.000 3 1 2009 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: 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
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 194 0.507 0.731 6.2E-17 0.010 None 1.000 1 3 2018 2018
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: 4683
Gene Symbol: NBN
NBN
O60934 nibrin Nucleic acid binding 291 0.467 0.808 2.2E-16 1.000 definitive 0.981 159 131 1985 2019
Entrez Id: 56996
Gene Symbol: SLC12A9
SLC12A9
Q9BXP2 solute carrier family 12 member 9 Transporter 280 0.454 0.769 1.2E-15 0.010 None 1.000 1 0 1997 1997
Entrez Id: 25788
Gene Symbol: RAD54B
RAD54B
O95073 Q9Y620 RAD54 homolog B 38 0.659 0.462 8.1E-13 0.010 None 1.000 1 0 2003 2003
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: 79738
Gene Symbol: BBS10
BBS10
Q8TAM1 Bardet-Biedl syndrome 10 63 0.644 0.538 1.7E-12 0.010 None 1.000 1 0 2006 2006