Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C3860213
Disease: Autoinflammatory disorder
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
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
0.400 Biomarker GENOMICS_ENGLAND A candidate gene for familial Mediterranean fever. 9288094

1997

Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C3860213
Disease: Autoinflammatory disorder
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
CUI: C3860213
Disease: Autoinflammatory disorder
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
CUI: C3860213
Disease: Autoinflammatory disorder
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
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
0.340 Biomarker GENOMICS_ENGLAND Retinitis pigmentosa in mevalonate kinase deficiency. 16435210

2005

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
0.330 Biomarker GENOMICS_ENGLAND Familial granulomatous arthritis, iritis, and rash. 4056967

1985

Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1
CUI: C3860213
Disease: Autoinflammatory disorder
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
CUI: C3860213
Disease: Autoinflammatory disorder
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
CUI: C3860213
Disease: Autoinflammatory disorder
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
CUI: C3860213
Disease: Autoinflammatory disorder
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
CUI: C3860213
Disease: Autoinflammatory disorder
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
CUI: C3860213
Disease: Autoinflammatory disorder
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
CUI: C3860213
Disease: Autoinflammatory disorder
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
CUI: C3860213
Disease: Autoinflammatory disorder
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
CUI: C3860213
Disease: Autoinflammatory disorder
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
CUI: C3860213
Disease: Autoinflammatory disorder
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
CUI: C3860213
Disease: Autoinflammatory disorder
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
CUI: C3860213
Disease: Autoinflammatory disorder
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
CUI: C3860213
Disease: Autoinflammatory disorder
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
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: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3860213
Disease: Autoinflammatory disorder
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
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: 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