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: 25939
Gene Symbol: SAMHD1
SAMHD1 		SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 0.547 0.769 6.5E-13
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		disease 0.320 strong 1.000 1 0 2010 2018
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: 4598
Gene Symbol: MVK
MVK 		mevalonate kinase 0.576 0.731 0.17
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		disease 0.340 strong 1.000 1 0 2003 2019
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		MEFV innate immuity regulator, pyrin 0.440 0.885 1.0E-14
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		disease 0.400 strong 1.000 1 0 1997 2019
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: 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: 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: 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: 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