Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5422
Gene Symbol: POLA1
POLA1
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker GENOMICS_ENGLAND DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis. 27019227

2016
Entrez Id: 90268
Gene Symbol: OTULIN
OTULIN
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker GENOMICS_ENGLAND Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. 27559085

2016
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: 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: 26525
Gene Symbol: IL36RN
IL36RN
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker GENOMICS_ENGLAND Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis. 22903787

2013
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: 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
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: 130340
Gene Symbol: AP1S3
AP1S3
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker GENOMICS_ENGLAND

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