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: 103
Gene Symbol: ADAR
ADAR
adenosine deaminase RNA specific 0.501 0.808 2.6E-02
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.310 strong 1.000 1 0 2012 2018
Entrez Id: 5422
Gene Symbol: POLA1
POLA1
DNA polymerase alpha 1, catalytic subunit 0.653 0.731 1.00
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
solute carrier family 29 member 3 0.578 0.769 1.3E-07
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.310 strong 1.000 1 0 2012 2013
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
proteasome 20S subunit beta 8 0.533 0.808 2.2E-02
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.310 strong 1.000 1 0 2011 2012
Entrez Id: 58484
Gene Symbol: NLRC4
NLRC4
NLR family CARD domain containing 4 0.556 0.769 9.9E-12
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.320 strong 1.000 1 0 2017 2020
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
nucleotide binding oligomerization domain containing 2 0.423 0.923 2.0E-30
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.330 strong 1.000 1 0 1985 2019
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 6452
Gene Symbol: SH3BP2
SH3BP2
SH3 domain binding protein 2 0.623 0.654 1.2E-11
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.300 limited 1.000 1 0 2018 2018
Entrez Id: 6868
Gene Symbol: ADAM17
ADAM17
ADAM metallopeptidase domain 17 0.453 0.808 1.00
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.300 moderate 1.000 1 0 2010 2010
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
TNF alpha induced protein 3 0.481 0.808 1.00
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
TNF receptor superfamily member 1A 0.409 0.923 0.99
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.380 strong 1.000 1 0 2004 2015
Entrez Id: 79092
Gene Symbol: CARD14
CARD14
caspase recruitment domain family member 14 0.546 0.846 1.2E-19
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
ribonuclease H2 subunit C 0.590 0.731 5.5E-03
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.300 strong 1.000 1 0 2015 2015
Entrez Id: 90268
Gene Symbol: OTULIN
OTULIN
OTU deubiquitinase with linear linkage specificity 0.751 0.346 0.22
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 9051
Gene Symbol: PSTPIP1
PSTPIP1
proline-serine-threonine phosphatase interacting protein 1 0.650 0.577 2.5E-06
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.340 strong 1.000 1 0 2002 2015
Entrez Id: 91662
Gene Symbol: NLRP12
NLRP12
NLR family pyrin domain containing 12 0.569 0.846 3.6E-28
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.360 strong 1.000 1 0 2008 2019
Entrez Id: 54
Gene Symbol: ACP5
ACP5
acid phosphatase 5, tartrate resistant 0.561 0.731 7.9E-02
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.300 strong 1.000 1 0 2011 2011
Entrez Id: 5336
Gene Symbol: PLCG2
PLCG2
phospholipase C gamma 2 0.588 0.808 1.00
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
ribonuclease H2 subunit A 0.592 0.692 4.2E-03
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.300 strong 1.000 1 0 2011 2011
Entrez Id: 11274
Gene Symbol: USP18
USP18
ubiquitin specific peptidase 18 0.601 0.615 1.5E-03
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.300 moderate 1.000 1 0 2016 2016
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
three prime repair exonuclease 1 0.517 0.808 0.58
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.310 strong 1.000 1 0 2015 2018
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.400 strong 1.000 1 0 2004 2020
Entrez Id: 1314
Gene Symbol: COPA
COPA
COPI coat complex subunit alpha 0.700 0.385 1.00
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 1777
Gene Symbol: DNASE2
DNASE2
deoxyribonuclease 2, lysosomal 0.700 0.462 4.5E-04
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1
NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.320 moderate 1.000 1 0 2009 2018