×
Entrez Id: 130340
Gene Symbol: AP1S3
AP1S3
Autoinflammatory disorder
0.300
Biomarker
GENOMICS_ENGLAND
RNASEH2B
Autoinflammatory disorder
0.300
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
Autoinflammatory disorder
0.330
Biomarker
GENOMICS_ENGLAND
Familial granulomatous arthritis, iritis, and rash.
4056967 1985
×
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
Autoinflammatory disorder
0.400
Biomarker
GENOMICS_ENGLAND
A candidate gene for familial Mediterranean fever.
9288094 1997
×
Entrez Id: 4598
Gene Symbol: MVK
MVK
Autoinflammatory disorder
0.340
Biomarker
GENOMICS_ENGLAND
Retinitis pigmentosa in mevalonate kinase deficiency.
16435210 2005
TNFRSF1A
Autoinflammatory disorder
0.380
Biomarker
GENOMICS_ENGLAND
The tumor-necrosis-factor-associated periodic syndrome, the brain, and tumor-necrosis-factor-alpha antagonists.
17360963 2007
×
Entrez Id: 3557
Gene Symbol: IL1RN
IL1RN
Autoinflammatory disorder
0.310
Biomarker
GENOMICS_ENGLAND
An autoinflammatory disease due to homozygous deletion of the IL1RN locus.
19494219 2009
×
Entrez Id: 6868
Gene Symbol: ADAM17
ADAM17
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: 25939
Gene Symbol: SAMHD1
SAMHD1
Autoinflammatory disorder
0.320
Biomarker
GENOMICS_ENGLAND
A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions.
21102625 2011
×
Entrez Id: 54
Gene Symbol: ACP5
ACP5
Autoinflammatory disorder
0.300
Biomarker
GENOMICS_ENGLAND
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.
21217752 2011
RNASEH2A
Autoinflammatory disorder
0.300
Biomarker
GENOMICS_ENGLAND
Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.
21454563 2011
×
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
Autoinflammatory disorder
0.310
Biomarker
GENOMICS_ENGLAND
Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.
21953331 2012
×
Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
Autoinflammatory disorder
0.310
Biomarker
GENOMICS_ENGLAND
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
22875837 2012
×
Entrez Id: 26525
Gene Symbol: IL36RN
IL36RN
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: 103
Gene Symbol: ADAR
ADAR
Autoinflammatory disorder
0.310
Biomarker
GENOMICS_ENGLAND
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
23001123 2012
×
Entrez Id: 340061
Gene Symbol: STING1
STING1
Autoinflammatory disorder
0.310
Biomarker
GENOMICS_ENGLAND
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.
25401470 2014
×
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
Autoinflammatory disorder
0.310
Biomarker
GENOMICS_ENGLAND
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
25604658 2015
RNASEH2C
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: 9051
Gene Symbol: PSTPIP1
PSTPIP1
Autoinflammatory disorder
0.340
Biomarker
GENOMICS_ENGLAND
Mutations resulting in charge reversal in the y-domain of PSTPIP1 (E→K) and increased interaction with pyrin cause a distinct autoinflammatory disorder defined by clinical and biochemical features not found in patients with PAPA syndrome, indicating a unique genotype-phenotype correlation for mutations in the PSTPIP1 gene.
26025129 2015
×
Entrez Id: 5422
Gene Symbol: POLA1
POLA1
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: 11274
Gene Symbol: USP18
USP18
Autoinflammatory disorder
0.300
Biomarker
GENOMICS_ENGLAND
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.
27325888 2016
×
Entrez Id: 90268
Gene Symbol: OTULIN
OTULIN
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: 9663
Gene Symbol: LPIN2
LPIN2
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: 58484
Gene Symbol: NLRC4
NLRC4
Autoinflammatory disorder
0.320
Biomarker
GENOMICS_ENGLAND
Life-threatening NLRC4-associated hyperinflammation successfully treated with IL-18 inhibition.
27876626 2017
×
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
Autoinflammatory disorder
0.300
Biomarker
GENOMICS_ENGLAND
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
28606988 2017