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: 9663
Gene Symbol: LPIN2
LPIN2
lipin 2 0.628 0.615 5.0E-05
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.300 strong 1.000 1 0 2017 2017
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: 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: 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: 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: 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: 51816
Gene Symbol: ADA2
ADA2
adenosine deaminase 2 0.545 0.846 8.1E-08
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.300 strong 1.000 1 0 2018 2018
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: 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: 26525
Gene Symbol: IL36RN
IL36RN
interleukin 36 receptor antagonist 0.638 0.538 3.4E-08
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.300 strong 1.000 1 0 2013 2013
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: 79621
Gene Symbol: RNASEH2B
RNASEH2B
ribonuclease H2 subunit B 0.595 0.615 3.3E-09
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.300 strong 0 0
Entrez Id: 130340
Gene Symbol: AP1S3
AP1S3
adaptor related protein complex 1 subunit sigma 3 0.711 0.385 1.6E-02
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.300 moderate 0 0
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: 3557
Gene Symbol: IL1RN
IL1RN
interleukin 1 receptor antagonist 0.373 0.923 3.1E-02
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.310 strong 1.000 1 0 2009 2011
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: 340061
Gene Symbol: STING1
STING1
stimulator of interferon response cGAMP interactor 1 0.522 0.769 1.2E-03
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease 0.310 strong 1.000 1 0 2014 2019
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: 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