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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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