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: 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: 79840
Gene Symbol: NHEJ1
NHEJ1
non-homologous end joining factor 1 0.705 0.385 4.2E-03
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.310 strong 1.000 0 0 2017 2017
Entrez Id: 146206
Gene Symbol: CARMIL2
CARMIL2
capping protein regulator and myosin 1 linker 2 0.695 0.462 2.9E-11
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.410 strong 1.000 1 0 2017 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: 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: 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: 57217
Gene Symbol: TTC7A
TTC7A
tetratricopeptide repeat domain 7A 0.641 0.577 1.5E-31
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.330 strong 1.000 1 0 2013 2014
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: 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: 84433
Gene Symbol: CARD11
CARD11
caspase recruitment domain family member 11 0.582 0.615 1.00
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.320 strong 1.000 1 0 2013 2018
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: 939
Gene Symbol: CD27
CD27
CD27 molecule 0.517 0.692 1.0E-02
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.310 strong 1.000 1 0 2013 2015
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: 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: 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: 81704
Gene Symbol: DOCK8
DOCK8
dedicator of cytokinesis 8 0.578 0.731 1.5E-11
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.400 strong 1.000 1 0 2009 2019
Entrez Id: 10892
Gene Symbol: MALT1
MALT1
MALT1 paracaspase 0.532 0.769 0.99
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.350 strong 1.000 1 0 2013 2019
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: 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
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: 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: 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: 7535
Gene Symbol: ZAP70
ZAP70
zeta chain of T cell receptor associated protein kinase 70 0.497 0.769 0.88
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.420 strong 1.000 0 0 2017 2017
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