Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11274
Gene Symbol: USP18
USP18
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker GENOMICS_ENGLAND Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. 27325888

2016
Entrez Id: 1777
Gene Symbol: DNASE2
DNASE2
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker GENOMICS_ENGLAND Type I interferon-mediated autoinflammation due to DNase II deficiency. 29259162

2017
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker GENOMICS_ENGLAND Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658

2015
Entrez Id: 9663
Gene Symbol: LPIN2
LPIN2
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker GENOMICS_ENGLAND Clinical and genetic association, radiological findings and response to biological therapy in seven children from Qatar with non-bacterial osteomyelitis. 27860302

2017
Entrez Id: 1314
Gene Symbol: COPA
COPA
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker GENOMICS_ENGLAND COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA. 29137621

2017
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker GENOMICS_ENGLAND Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome. 21454563

2011
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 6868
Gene Symbol: ADAM17
ADAM17
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker GENOMICS_ENGLAND Critical role of the disintegrin metalloprotease ADAM17 for intestinal inflammation and regeneration in mice. 20603312

2010
Entrez Id: 5336
Gene Symbol: PLCG2
PLCG2
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker GENOMICS_ENGLAND Using genes to triangulate the pathophysiology of granulomatous autoinflammatory disease: NOD2, PLCG2 and LACC1. 29538758

2018
Entrez Id: 54
Gene Symbol: ACP5
ACP5
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker GENOMICS_ENGLAND Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. 21217752

2011