×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Autoinflammatory disorder
0.400
Biomarker
GENOMICS_ENGLAND
Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene.
29366613
2018
×
Entrez Id:
4210
Gene Symbol:
MEFV
MEFV
Autoinflammatory disorder
0.400
Biomarker
GENOMICS_ENGLAND
A candidate gene for familial Mediterranean fever.
9288094
1997
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:
91662
Gene Symbol:
NLRP12
NLRP12
Autoinflammatory disorder
0.360
Biomarker
GENOMICS_ENGLAND
Spontaneous preterm birth: advances toward the discovery of genetic predisposition.
29248470
2018
×
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:
4598
Gene Symbol:
MVK
MVK
Autoinflammatory disorder
0.340
Biomarker
GENOMICS_ENGLAND
Retinitis pigmentosa in mevalonate kinase deficiency.
16435210
2005
×
Entrez Id:
64127
Gene Symbol:
NOD2
NOD2
Autoinflammatory disorder
0.330
Biomarker
GENOMICS_ENGLAND
Familial granulomatous arthritis, iritis, and rash.
4056967
1985
×
Entrez Id:
22861
Gene Symbol:
NLRP1
NLRP1
Autoinflammatory disorder
0.320
Biomarker
GENOMICS_ENGLAND
Association of NLRP1 and NLRP3 Polymorphisms with Psoriasis Vulgaris Risk in the Chinese Han Population.
29850521
2018
×
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:
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:
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
×
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:
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:
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:
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:
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:
6452
Gene Symbol:
SH3BP2
SH3BP2
Autoinflammatory disorder
0.300
Biomarker
GENOMICS_ENGLAND
Second-Generation SYK Inhibitor Entospletinib Ameliorates Fully Established Inflammation and Bone Destruction in the Cherubism Mouse Model.
29669173
2018
×
Entrez Id:
79092
Gene Symbol:
CARD14
CARD14
Autoinflammatory disorder
0.300
Biomarker
GENOMICS_ENGLAND
Gain-of-Function Mutation of Card14 Leads to Spontaneous Psoriasis-like Skin Inflammation through Enhanced Keratinocyte Response to IL-17A.
29980436
2018
×
Entrez Id:
7128
Gene Symbol:
TNFAIP3
TNFAIP3
Autoinflammatory disorder
0.300
Biomarker
GENOMICS_ENGLAND
A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease.
29317407
2018
×
Entrez Id:
51816
Gene Symbol:
ADA2
ADA2
Autoinflammatory disorder
0.300
Biomarker
GENOMICS_ENGLAND
Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia.
29564582
2018
×
Entrez Id:
5336
Gene Symbol:
PLCG2
PLCG2
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:
64135
Gene Symbol:
IFIH1
IFIH1
Autoinflammatory disorder
0.300
Biomarker
GENOMICS_ENGLAND
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
28606988
2017
×
Entrez Id:
1777
Gene Symbol:
DNASE2
DNASE2
Autoinflammatory disorder
0.300
Biomarker
GENOMICS_ENGLAND
Type I interferon-mediated autoinflammation due to DNase II deficiency.
29259162
2017
×
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:
1314
Gene Symbol:
COPA
COPA
Autoinflammatory disorder
0.300
Biomarker
GENOMICS_ENGLAND
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.
29137621
2017