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: 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: 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: 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: 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: 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: 6772
Gene Symbol: STAT1
STAT1
signal transducer and activator of transcription 1 0.399 0.885 1.00
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.450 strong 1.000 1 0 2014 2019
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: 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: 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: 5293
Gene Symbol: PIK3CD
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease 0.340 strong 1.000 1 0 2013 2019
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
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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