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: 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: 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: 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: 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: 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: 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: 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: 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: 64421
Gene Symbol: DCLRE1C
DCLRE1C
DNA cross-link repair 1C 0.544 0.808 2.5E-07
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.320 strong 1.000 0 0 2013 2018
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
DNA ligase 4 0.478 0.846 4.2E-06
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.320 strong 1.000 0 0 2006 2016
Entrez Id: 4860
Gene Symbol: PNP
PNP
purine nucleoside phosphorylase 0.527 0.885 7.0E-06
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.320 strong 1.000 0 0 2014 2020
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: 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: 84876
Gene Symbol: ORAI1
ORAI1
ORAI calcium release-activated calcium modulator 1 0.520 0.808 1.9E-05
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.320 strong 1.000 1 0 2009 2018
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
transferrin receptor 0.437 0.885 7.0E-05
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.400 limited 1.000 1 0 2016 2016
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: 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: 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: 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: 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: 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: 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: 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: 6786
Gene Symbol: STIM1
STIM1
stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.330 strong 1.000 1 0 2016 2019