Source: BEFREE

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: 56262
Gene Symbol: LRRC8A
LRRC8A
leucine rich repeat containing 8 VRAC subunit A 0.644 0.692 0.94
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.620 limited 0.500 2 0 2003 2017
Entrez Id: 973
Gene Symbol: CD79A
CD79A
CD79a molecule 0.536 0.731 0.69
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.620 strong 1.000 2 0 2002 2018
Entrez Id: 974
Gene Symbol: CD79B
CD79B
CD79b molecule 0.576 0.577 0.92
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.610 strong 1.000 1 0 2008 2014
Entrez Id: 29760
Gene Symbol: BLNK
BLNK
B cell linker 0.603 0.731 0.61
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.610 strong 1.000 1 0 2015 2015
Entrez Id: 695
Gene Symbol: BTK
BTK
Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.500 strong 1.000 15 0 1994 2020
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.410 strong 1.000 1 0 2012 2014
Entrez Id: 930
Gene Symbol: CD19
CD19
CD19 molecule 0.430 0.885 0.90
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.320 None 1.000 2 0 2006 2020
Entrez Id: 613
Gene Symbol: BCR
BCR
BCR activator of RhoGEF and GTPase 0.431 0.885 0.99
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.020 None 1.000 2 0 2011 2013
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CD40 ligand 0.414 0.846 0.72
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.020 None 1.000 2 0 1994 2019
Entrez Id: 7852
Gene Symbol: CXCR4
CXCR4
C-X-C motif chemokine receptor 4 0.362 0.923 1.8E-02
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 64421
Gene Symbol: DCLRE1C
DCLRE1C
DNA cross-link repair 1C 0.544 0.808 2.5E-07
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
recombination activating 1 0.509 0.769 2.8E-05
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
activation induced cytidine deaminase 0.463 0.885 9.2E-06
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 55718
Gene Symbol: POLR3E
POLR3E
RNA polymerase III subunit E 0.805 0.308 1.3E-02
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.010 None 1.000 1 0 1978 1978
Entrez Id: 2672
Gene Symbol: GFI1
GFI1
growth factor independent 1 transcriptional repressor 0.546 0.769 0.25
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 325
Gene Symbol: APCS
APCS
amyloid P component, serum 0.531 0.808 3.2E-02
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
interferon gamma receptor 1 0.529 0.692 1.6E-02
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 4068
Gene Symbol: SH2D1A
SH2D1A
SH2 domain containing 1A 0.525 0.731 0.39
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 4792
Gene Symbol: NFKBIA
NFKBIA
NFKB inhibitor alpha 0.487 0.885 0.99
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
5'-nucleotidase ecto 0.436 0.885 2.3E-11
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.010 None 1.000 1 0 1978 1978
Entrez Id: 5450
Gene Symbol: POU2AF1
POU2AF1
POU class 2 homeobox associating factor 1 0.608 0.615 0.57
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 55
Gene Symbol: ACP3
ACP3
acid phosphatase 3 0.525 0.731 2.5E-16
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.010 None 1.000 1 0 1978 1978
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
elastase, neutrophil expressed 0.447 0.846 1.2E-03
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.010 None 1.000 1 0 2005 2005