×
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
×
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: 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: 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
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: 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
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: 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
×
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: 130340
Gene Symbol: AP1S3
AP1S3
Autoinflammatory disorder
0.300
Biomarker
GENOMICS_ENGLAND
RNASEH2B
Autoinflammatory disorder
0.300
Biomarker
GENOMICS_ENGLAND
×
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