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: 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: 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: 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: 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: 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: 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: 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: 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: 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