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: 29851
Gene Symbol: ICOS
ICOS
inducible T cell costimulator 0.502 0.731 3.1E-02
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 50615
Gene Symbol: IL21R
IL21R
interleukin 21 receptor 0.550 0.731 1.00
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 strong 1.000 1 0 2003 2003
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
adenosine deaminase 2 0.545 0.846 8.1E-08
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 5238
Gene Symbol: PGM3
PGM3
phosphoglucomutase 3 0.610 0.769 1.5E-05
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 9094
Gene Symbol: UNC119
UNC119
unc-119 lipid binding chaperone 0.691 0.462 1.5E-04
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 limited 1.000 1 0 2012 2012
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
protein kinase, DNA-activated, catalytic subunit 0.540 0.808 1.00
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 strong 1.000 1 0 2015 2015
Entrez Id: 5993
Gene Symbol: RFX5
RFX5
regulatory factor X5 0.650 0.577 2.0E-11
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 strong 1.000 1 0 1997 1997
Entrez Id: 84061
Gene Symbol: MAGT1
MAGT1
magnesium transporter 1 0.548 0.769 0.96
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 strong 1.000 1 0 2011 2011
Entrez Id: 6776
Gene Symbol: STAT5A
STAT5A
signal transducer and activator of transcription 5A 0.445 0.808 1.00
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 limited 1.000 1 0 2006 2006
Entrez Id: 970
Gene Symbol: CD70
CD70
CD70 molecule 0.542 0.692 1.0E-02
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 917
Gene Symbol: CD3G
CD3G
CD3g molecule 0.695 0.346 1.7E-05
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 strong 1.000 1 0 2007 2007
Entrez Id: 4478
Gene Symbol: MSN
MSN
moesin 0.534 0.769 1.00
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 399
Gene Symbol: RHOH
RHOH
ras homolog family member H 0.666 0.462 0.15
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 moderate 1.000 1 0 2013 2013
Entrez Id: 11151
Gene Symbol: CORO1A
CORO1A
coronin 1A 0.564 0.692 0.97
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 strong 1.000 1 0 2009 2009
Entrez Id: 3702
Gene Symbol: ITK
ITK
IL2 inducible T cell kinase 0.555 0.769 3.1E-08
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 strong 1.000 1 0 2011 2011
Entrez Id: 3559
Gene Symbol: IL2RA
IL2RA
interleukin 2 receptor subunit alpha 0.389 0.885 5.5E-02
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
RecQ like helicase 4 0.496 0.808 3.3E-35
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 limited 1.000 1 0 2006 2006
Entrez Id: 6777
Gene Symbol: STAT5B
STAT5B
signal transducer and activator of transcription 5B 0.442 0.808 1.00
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
cytotoxic T-lymphocyte associated protein 4 0.369 0.923 0.94
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 28755
Gene Symbol: TRAC
TRAC
T cell receptor alpha constant 0.691 0.615
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 strong 1.000 1 0 1986 1986
Entrez Id: 7293
Gene Symbol: TNFRSF4
TNFRSF4
TNF receptor superfamily member 4 0.547 0.692 1.5E-04
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.300 limited 0 0
Entrez Id: 6789
Gene Symbol: STK4
STK4
serine/threonine kinase 4 0.638 0.462 1.5E-02
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.310 strong 1.000 1 0 2014 2015
Entrez Id: 3551
Gene Symbol: IKBKB
IKBKB
inhibitor of nuclear factor kappa B kinase subunit beta 0.506 0.846 0.99
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.310 strong 1.000 1 0 2014 2014
Entrez Id: 3932
Gene Symbol: LCK
LCK
LCK proto-oncogene, Src family tyrosine kinase 0.564 0.769 1.00
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.310 strong 1.000 1 0 2001 2012