Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 545
Gene Symbol: ATR
ATR 		ATR serine/threonine kinase 0.456 0.923 3.5E-09
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.800 strong 1.000 0 0 2003 2018
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ 		centromere protein J 0.546 0.846 2.1E-27
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.710 None 1.000 1 0 2010 2010
Entrez Id: 5116
Gene Symbol: PCNT
PCNT 		pericentrin 0.564 0.808 4.0E-58
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.550 strong 1.000 0 0 2008 2011
Entrez Id: 10293
Gene Symbol: TRAIP
TRAIP 		TRAF interacting protein 0.644 0.654 1.6E-05
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.510 strong 1.000 1 0 2016 2018
Entrez Id: 1062
Gene Symbol: CENPE
CENPE 		centromere protein E 0.636 0.692 0.24
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.510 None 1.000 0 0 2014 2014
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP 		ATR interacting protein 0.666 0.692 2.0E-05
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.510 limited 1.000 0 0 2012 2012
Entrez Id: 10733
Gene Symbol: PLK4
PLK4 		polo like kinase 4 0.551 0.731 7.1E-06
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.510 None 1.000 0 0 2014 2017
Entrez Id: 3981
Gene Symbol: LIG4
LIG4 		DNA ligase 4 0.478 0.846 4.2E-06
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.320 strong 1.000 1 0 2001 2015
Entrez Id: 1763
Gene Symbol: DNA2
DNA2 		DNA replication helicase/nuclease 2 0.626 0.731 1.3E-18
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.320 limited 1.000 0 0 2014 2019
Entrez Id: 4998
Gene Symbol: ORC1
ORC1 		origin recognition complex subunit 1 0.595 0.654 1.7E-14
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.310 strong 1.000 1 0 2011 2011
Entrez Id: 10785
Gene Symbol: WDR4
WDR4 		WD repeat domain 4 0.653 0.538 1.4E-08
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.310 moderate 1.000 1 0 2015 2018
Entrez Id: 1063
Gene Symbol: CENPF
CENPF 		centromere protein F 0.601 0.654 1.9E-36
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.300 strong 1.000 1 0 2015 2015
Entrez Id: 81620
Gene Symbol: CDT1
CDT1 		chromatin licensing and DNA replication factor 1 0.597 0.731 2.6E-10
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.300 strong 1.000 1 0 2011 2011
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4 		X-ray repair cross complementing 4 0.528 0.769 8.3E-07
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 3479
Gene Symbol: IGF1
IGF1 		insulin like growth factor 1 0.318 0.885 0.27
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.300 strong 1.000 1 0 1996 1996
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 23594
Gene Symbol: ORC6
ORC6 		origin recognition complex subunit 6 0.628 0.577 3.4E-07
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.300 strong 1.000 1 0 2011 2011
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		geminin DNA replication inhibitor 0.554 0.808 0.11
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.300 strong 1.000 1 0 2015 2015
Entrez Id: 5000
Gene Symbol: ORC4
ORC4 		origin recognition complex subunit 4 0.612 0.654 7.6E-13
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.300 strong 1.000 1 0 2011 2011
Entrez Id: 990
Gene Symbol: CDC6
CDC6 		cell division cycle 6 0.552 0.731 1.1E-09
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease 0.300 None 1.000 1 0 2012 2012