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: 5591
Gene Symbol: PRKDC
PRKDC 		protein kinase, DNA-activated, catalytic subunit 0.540 0.808 1.00
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.700 strong 1.000 1 0 1995 2018
Entrez Id: 5896
Gene Symbol: RAG1
RAG1 		recombination activating 1 0.509 0.769 2.8E-05
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.700 strong 0.952 0 0 2000 2019
Entrez Id: 3718
Gene Symbol: JAK3
JAK3 		Janus kinase 3 0.505 0.731 5.9E-06
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.700 strong 1.000 0 0 1995 2019
Entrez Id: 916
Gene Symbol: CD3E
CD3E 		CD3e molecule 0.615 0.615 3.4E-04
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.620 definitive 1.000 1 0 1991 2014
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70 		zeta chain of T cell receptor associated protein kinase 70 0.497 0.769 0.88
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.600 None 0.846 1 0 1994 2017
Entrez Id: 915
Gene Symbol: CD3D
CD3D 		CD3d molecule 0.626 0.577 8.6E-05
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.540 strong 1.000 0 0 2003 2014
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.500 strong 0.991 1 0 1974 2019
Entrez Id: 3981
Gene Symbol: LIG4
LIG4 		DNA ligase 4 0.478 0.846 4.2E-06
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.500 strong 1.000 1 0 2000 2019
Entrez Id: 5897
Gene Symbol: RAG2
RAG2 		recombination activating 2 0.507 0.769 2.0E-02
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.500 strong 0.976 0 0 1994 2019
Entrez Id: 64421
Gene Symbol: DCLRE1C
DCLRE1C 		DNA cross-link repair 1C 0.544 0.808 2.5E-07
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.500 strong 1.000 0 0 1995 2019
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG 		interleukin 2 receptor subunit gamma 0.535 0.769 0.99
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.500 strong 0.971 0 0 1987 2020
Entrez Id: 3575
Gene Symbol: IL7R
IL7R 		interleukin 7 receptor 0.487 0.769 3.8E-07
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.500 strong 1.000 0 0 1998 2020
Entrez Id: 5788
Gene Symbol: PTPRC
PTPRC 		protein tyrosine phosphatase receptor type C 0.435 0.808 1.00
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.470 strong 1.000 1 0 2000 2018
Entrez Id: 919
Gene Symbol: CD247
CD247 		CD247 molecule 0.539 0.731 1.7E-02
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.400 moderate 1.000 1 0 2015 2015
Entrez Id: 11151
Gene Symbol: CORO1A
CORO1A 		coronin 1A 0.564 0.692 0.97
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.340 strong 1.000 1 0 2008 2016
Entrez Id: 50615
Gene Symbol: IL21R
IL21R 		interleukin 21 receptor 0.550 0.731 1.00
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.310 strong 1.000 1 0 2003 2013
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.300 strong 1.000 1 0 2009 2009
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.300 moderate 1.000 1 0 2001 2001