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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Hereditary Autoinflammatory Diseases
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Accession:DOID:9006364 term browser browse the term
Definition:Hereditary inflammation conditions, characterized by recurrent episodes of systemic inflammation. Common symptoms include recurrent fever, rash, arthritis, fatigue, and secondary AMYLOIDOSIS. Hereditary autoinflammatory diseases are associated with mutations in genes involved in regulation of normal inflammatory process and are not caused by AUTOANTIBODIES, or antigen specific T-LYMPHOCYTES.
Synonyms:exact_synonym: Reimann periodic disease;   Siegal Cattan Mamou disease;   hereditary autoinflammation disease;   hereditary autoinflammation diseases;   hereditary autoinflammatory disease;   hereditary periodic fever syndromes;   hereditary recurrent fever;   hereditary recurrent fevers
 primary_id: MESH:D056660
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hereditary Autoinflammatory Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRC4 NLR family CARD domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25217959 PMID:25217960
G TNFAIP3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26642243 NCBI chr 1:30,247,432...30,262,992
Ensembl chr 1:30,251,059...30,261,001
JBrowse link
Autoinflammation with Arthritis and Dyskeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP1 NLR family pyrin domain containing 1 ISO OMIM NCBI chr 5:31,264,554...31,299,538
Ensembl chr 5:31,266,621...31,299,304
JBrowse link
AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIPK1 receptor interacting serine/threonine kinase 1 ISO OMIM NCBI chr35:3,367,796...3,407,631
Ensembl chr35:3,263,226...3,405,883
JBrowse link
Autoinflammation with Infantile Enterocolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPY30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr17:25,368,121...25,380,882
Ensembl chr17:25,368,142...25,378,356
JBrowse link
G MEMO1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr17:25,231,982...25,298,786
Ensembl chr17:25,237,661...25,303,462
JBrowse link
G NLRC4 NLR family CARD domain containing 4 ISO OMIM
G SLC30A6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr17:25,450,766...25,493,118
Ensembl chr17:25,450,846...25,490,952
JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr17:25,393,169...25,447,686
Ensembl chr17:25,393,422...25,446,539
JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr17:25,017,113...25,056,156
Ensembl chr17:25,017,113...25,056,544
JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935
JBrowse link
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLCG2 phospholipase C gamma 2 ISO OMIM NCBI chr 5:70,054,683...70,233,459
Ensembl chr 5:70,059,255...70,207,049
JBrowse link
Autoinflammation, Immunde Dysregulation, and Eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL9A3 collagen type IX alpha 3 chain IAGP Oculoskeletal dysplasia 1 OMIA PMID:830631 PMID:1525714 PMID:3204050 PMID:20686772 PMID:22065099 PMID:31415586 PMID:31595625 NCBI chr24:46,653,400...46,669,183
Ensembl chr24:46,662,376...46,667,884
JBrowse link
G JAK1 Janus kinase 1 ISO OMIM NCBI chr 5:45,251,653...45,408,571
Ensembl chr 5:45,251,653...45,408,571
JBrowse link
autosomal dominant familial periodic fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCNN1A sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar NCBI chr27:38,612,206...38,638,212
Ensembl chr27:38,612,194...38,638,980
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO OMIM NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
JBrowse link
Behcet's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 ISO DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) RGD PMID:22705826 RGD:8657073 NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
JBrowse link
G ACE angiotensin I converting enzyme susceptibility
no_association
ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15045629 PMID:15961928 RGD:7829810 RGD:8142349 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G ADA2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Behcet's syndrome
ClinVar Annotator: match by term: Behcet disease
ClinVar Annotator: match by term: Behcet Syndrome
ClinVar PMID:28492532 PMID:28814775 NCBI chr27:44,883,573...44,912,930
Ensembl chr27:44,884,882...44,912,850
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444
JBrowse link
G APOA1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943
JBrowse link
G APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
JBrowse link
G B9D2 B9 domain containing 2 ISO DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G CAT catalase ISO protein:decreased activity:erythrocyte:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12074830 PMID:17206395 RGD:9068907 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility ISO DNA:snp:promoter:g.-2518A>G (human)
protein:increased expression:plasma (human)
RGD PMID:12712358 PMID:19782713 RGD:8548882 RGD:8549488 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCR1 chemokine (C-C motif) receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
JBrowse link
G CCR5 C-C motif chemokine receptor 5 no_association ISO protein:increased expression:blood, T cell (human)
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
RGD PMID:15009175 PMID:15501397 PMID:17067435 RGD:4892106 RGD:8551814 RGD:8551827 NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CFB complement factor B ISO RGD PMID:6900632 RGD:7411737 NCBI chr12:1,400,143...1,406,267 JBrowse link
G CPB2 carboxypeptidase B2 ISO RGD PMID:15668188 RGD:1598474 NCBI chr22:5,074,805...5,126,635
Ensembl chr22:5,074,816...5,126,170
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO DNA:SNPs: :1661A>G,49C>A(human) RGD PMID:19563524 RGD:7411682 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:SNPs: :4889A>G, 4887C>A (human) RGD PMID:15088300 RGD:8552789 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
JBrowse link
G DLA-64 MHC class I DLA-64 disease_progression ISO DNA:polymorphism:cds:HLA-B*51 (human)
DNA:polymorphism:cds:HLA-B*15 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-B*51 (human, Turkish)
RGD
CTD
PMID:11426025 PMID:12622781 PMID:16101830 PMID:20622878 PMID:23396137 RGD:7364873 RGD:7364918 RGD:7364939 NCBI chr12:983,573...986,969 JBrowse link
G DLA-DMA major histocompatibility complex, class II, DM alpha no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr12:2,516,974...2,534,085
Ensembl chr12:2,503,325...2,533,990
JBrowse link
G DLA-DMB major histocompatibility complex, class II, DM beta no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr12:2,503,325...2,508,380
Ensembl chr12:2,503,325...2,533,990
JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634
JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296
JBrowse link
G FAS Fas cell surface death receptor severity ISO protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphism: :DRB1*0802(human) RGD PMID:1358857 RGD:7365104 NCBI chr12:2,151,409...2,164,564 JBrowse link
G HMOX1 heme oxygenase 1 ISO mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
JBrowse link
G ICAM1 intercellular adhesion molecule 1 susceptibility
no_association
ISO DNA:polymorphism: :p.K469E (human)
DNA:SNP:exon:p.R241G (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:8712863 PMID:10792421 PMID:11409120 PMID:12074830 PMID:12808331 RGD:8158115 RGD:8158123 RGD:8547575 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IFNG interferon gamma ISO associated with Uveitis; protein:increased expression:aqueous humor:
protein:increased expression:serum:
RGD PMID:2154346 PMID:21334264 RGD:8142356 RGD:8142377 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO DNA:missense mutation:cds:1217A>T(D406V)(human) RGD PMID:20412081 RGD:12791269 NCBI chr  X:122,232,052...122,253,499
Ensembl chr  X:122,235,878...122,250,562
JBrowse link
G IL10 interleukin 10 susceptibility
treatment
disease_progression
onset
ISO DNA:SNP:promoter:-592A>C (rs1800872) (human)
CTD Direct Evidence: marker/mechanism
DNA, protein:hypermethylation, decreased expression:promoter, serum
RGD
CTD
PMID:15980236 PMID:20622878 PMID:20622879 PMID:21506890 PMID:26654556 PMID:29294320 PMID:29719061 RGD:14975131 RGD:14975149 RGD:14975256 RGD:1598628 RGD:7364843 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
JBrowse link
G IL18 interleukin 18 no_association
susceptibility
ISO DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human)
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human)
RGD PMID:14727452 PMID:15234532 PMID:16273766 PMID:17055358 PMID:21532063 RGD:4889844 RGD:8655897 RGD:8655910 RGD:8655926 RGD:8655927 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G IL18R1 interleukin 18 receptor 1 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 NCBI chr10:40,614,336...40,653,300
Ensembl chr10:40,615,312...40,653,454
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G IL2 interleukin 2 ISO DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL21R interleukin 21 receptor ISO RGD PMID:21724243 RGD:6892926 NCBI chr 6:19,181,846...19,217,915
Ensembl chr 6:19,182,071...19,217,931
JBrowse link
G IL23R interleukin 23 receptor susceptibility ISO DNA:SNP: :rs1884444(human)
DNA:SNPs,haplotype::rs17375018, rs11209032(human);
RGD PMID:20375120 PMID:22483685 RGD:8549550 RGD:8549565 NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474
JBrowse link
G IL4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G IL6 interleukin 6 ISO protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G ITGA2 integrin subunit alpha 2 susceptibility ISO RGD PMID:12412731 RGD:1582300 NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983
JBrowse link
G ITGAL integrin subunit alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 6:17,605,611...17,645,134
Ensembl chr 6:17,605,760...17,644,986
JBrowse link
G ITGB2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018
JBrowse link
G LOC100683403 NKG2-A/NKG2-B type II integral membrane protein-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr27:35,307,892...35,374,397 JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III susceptibility ISO DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19026120 RGD:5508432 NCBI chr38:21,054,870...21,060,948 JBrowse link
G LOC479260 mannose-binding protein A severity
susceptibility
ISO protein:decreased secretion:serum (human)
DNA:polymorphisms:5' utr, exon:multiple (human)
RGD PMID:15693089 PMID:15730518 RGD:1582154 RGD:1582155 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G MEFV MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar NCBI chr 6:37,964,776...37,984,830
Ensembl chr 6:37,970,608...37,983,737
JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:27156371 PMID:30366049 RGD:21409751 RGD:25671481 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:17949555 RGD:8657044 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:plasma, platelets RGD PMID:17949555 PMID:22116092 RGD:8547820 RGD:8657044 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 no_association
susceptibility
ISO DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)
ClinVar Annotator: match by term: Behcet's syndrome
DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)
RGD
ClinVar
PMID:15515785 PMID:19748964 PMID:28492532 RGD:13204711 RGD:8158059 NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232
JBrowse link
G NOS3 nitric oxide synthase 3 no_association
susceptibility
ISO DNA:snp:cds:p.E298D
DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
DNA:snp:cds:p.E298D (human)
DNA:duplication:intron:g.IVS4?-?+27 (human)
RGD PMID:11908569 PMID:15705632 PMID:16463158 PMID:21957880 RGD:7771576 RGD:7771577 RGD:7775048 RGD:7775050 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:28492532 NCBI chr30:39,270,852...39,309,507
Ensembl chr30:39,270,919...39,308,108
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association ISO DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) RGD PMID:17660222 PMID:22396730 RGD:6484733 RGD:7829745 NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12074830 PMID:18341631 RGD:8547693 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282
JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
JBrowse link
G STAT3 signal transducer and activator of transcription 3 no_association ISO DNA:SNP: :rs744166, rs2293152 (human)
DNA:SNP: :rs2293152 (human)
RGD PMID:22205606 PMID:23127549 RGD:6483021 RGD:8694309 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs7574865 (human)
RGD
CTD
PMID:20438790 PMID:23001997 PMID:23291587 RGD:8661713 RGD:8661718 NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
JBrowse link
G TLR2 toll like receptor 2 no_association
susceptibility
ISO mRNA:increased expression:intestine:
protein,mRNA:increased expression:peripheral blood mononuclear cell
DNA:polymorphism: :12408G>A(human)
DNA:SNPs: : rs2289318,rs3804099(human)
RGD PMID:18336589 PMID:19796535 PMID:23908180 PMID:24255044 RGD:8552883 RGD:8552885 RGD:8552888 RGD:8552915 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G TLR3 toll like receptor 3 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247
JBrowse link
G TLR4 toll like receptor 4 susceptibility
no_association
ISO DNA:SNP:3'UTR: rs7037117(human)
mRNA:increased expression:intestine:
DNA:polymorphism: :1896A>G,11196C>T(human)
mRNA:increased expression:mononulcear cell:
RGD PMID:18234118 PMID:18336589 PMID:18408113 PMID:19796535 RGD:7777175 RGD:7777176 RGD:8552888 RGD:8552915 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TNF tumor necrosis factor no_association ISO protein:increased expression:serum
DNA:SNP:promoter
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)
associated with Uveitis;protein:increased expression:aqueous humor:
DNA:SNP:promoter:-308G>A (human)
RGD PMID:12632436 PMID:12770792 PMID:14600787 PMID:15875188 PMID:20601837 PMID:21334264 RGD:12904036 RGD:12904040 RGD:12904048 RGD:7394759 RGD:7401213 RGD:8142356 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum
ClinVar Annotator: match by term: Behcet's syndrome
RGD
ClinVar
PMID:14600787 PMID:28492532 PMID:28814775 RGD:7401213 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
JBrowse link
G VDR vitamin D receptor no_association ISO DNA:SNP: :rs1544410 (human)
DNA:SNP:exon:rs2228570 (human)
RGD PMID:21820934 RGD:8158077 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G VIM vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466
JBrowse link
G VWF von Willebrand factor ISO RGD PMID:15849757 RGD:1580642 NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142
JBrowse link
CINCA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP3 NLR family pyrin domain containing 3 ISO OMIM NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059
JBrowse link
Cold Hypersensitivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPA1 transient receptor potential cation channel subfamily A member 1 ISO associated with Peripheral Nerve Injuries; RGD PMID:21068322 RGD:10043615 NCBI chr29:20,951,736...21,000,956
Ensembl chr29:20,951,716...21,001,208
JBrowse link
Cryopyrin-Associated Periodic Syndromes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL17A interleukin 17A treatment ISO RGD PMID:21637346 RGD:9068438 NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO RGD PMID:16899778 RGD:8549803 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G MME membrane metalloendopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12928894 NCBI chr23:48,966,222...49,059,919
Ensembl chr23:48,971,066...49,059,919
JBrowse link
G NLRC4 NLR family CARD domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD
G NLRP3 NLR family pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome
ClinVar Annotator: match by term: COLD-INDUCED AUTOINFLAMMATORY SYNDROME, FAMILIAL
ClinVar Annotator: match by term: Familial cold urticaria
ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3
CTD
ClinVar
PMID:49161 PMID:5173311 PMID:9536098 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 PMID:12483741 PMID:12522564 PMID:12928894 PMID:14630794 PMID:14872505 PMID:15020601 PMID:15334500 PMID:15593220 PMID:15724022 PMID:15801036 PMID:16081838 PMID:16100350 PMID:16802372 PMID:16920754 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17284928 PMID:17393462 PMID:17509468 PMID:17513575 PMID:17576681 PMID:18063752 PMID:18080732 PMID:18263599 PMID:18311798 PMID:19319132 PMID:19501000 PMID:20131254 PMID:20159265 PMID:20182451 PMID:20472245 PMID:21058222 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:21637346 PMID:21702021 PMID:22128899 PMID:22193915 PMID:22279087 PMID:22403613 PMID:22512814 PMID:22524199 PMID:22529966 PMID:22566169 PMID:22661645 PMID:22843550 PMID:22935299 PMID:23015306 PMID:23421920 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24326009 PMID:24365011 PMID:24431285 PMID:24517500 PMID:24649046 PMID:24759409 PMID:24773462 PMID:25038238 PMID:25217959 PMID:25417688 PMID:25584041 PMID:25586466 PMID:25596455 PMID:25619352 PMID:25639832 PMID:25730877 PMID:25732894 PMID:25741868 PMID:25766347 PMID:25821352 PMID:25866490 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26590045 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27134254 PMID:27191192 PMID:27692610 PMID:27819323 PMID:27943240 PMID:27943647 PMID:27994174 PMID:28028683 PMID:28079503 PMID:28137891 PMID:28166811 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28501347 PMID:28692792 PMID:28847925 PMID:29047407 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29163488 PMID:29239927 PMID:29322034 PMID:29611406 PMID:29922587 PMID:29977033 PMID:29988644 PMID:30214525 PMID:30311386 PMID:30338413 PMID:30407166 PMID:30431487 PMID:30808881 PMID:32082075 PMID:32199921 NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059
JBrowse link
G OR2B11 olfactory receptor family 2 subfamily B member 11 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 PMID:29611406 NCBI chr 8:378,558...379,517
Ensembl chr 8:378,570...379,517
JBrowse link
G PLCG2 phospholipase C gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:70,054,683...70,233,459
Ensembl chr 5:70,059,255...70,207,049
JBrowse link
G SLC6A5 solute carrier family 6 member 5 IAGP Hyperekplexia (Startle disease) OMIA PMID:6524730 PMID:21420493 PMID:30847549 NCBI chr21:42,581,931...42,639,870
Ensembl chr21:42,581,965...42,639,585
JBrowse link
Deficiency of Interleukin-1 Receptor Antagonist term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1RN interleukin 1 receptor antagonist ISO OMIM NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G NFKBIA NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Osteomyelitis, sterile multifocal, with periostitis and pustulosis ClinVar NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433
JBrowse link
familial cold autoinflammatory syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP12 NLR family pyrin domain containing 12 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:24033266 PMID:24064030 PMID:25741868 PMID:27314497 PMID:27633793 PMID:28492532 NCBI chr 1:103,571,756...103,605,692 JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 PMID:15593220 PMID:17038455 PMID:17213252 PMID:17393462 PMID:20159265 PMID:22566169 PMID:23421920 PMID:24033266 PMID:24123366 PMID:24135410 PMID:25038238 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26467025 PMID:26531310 PMID:27994174 PMID:28492532 PMID:28692792 PMID:29159471 PMID:29922587 PMID:30407166 PMID:30808881 NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059
JBrowse link
familial cold autoinflammatory syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP3 NLR family pyrin domain containing 3 ISO OMIM NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059
JBrowse link
familial cold autoinflammatory syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYADM myeloid associated differentiation marker ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr 1:103,315,606...103,322,329 JBrowse link
G NLRP12 NLR family pyrin domain containing 12 ISO OMIM NCBI chr 1:103,571,756...103,605,692 JBrowse link
G PRKCG protein kinase C gamma ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr 1:103,295,110...103,312,562 JBrowse link
familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLCG2 phospholipase C gamma 2 ISO OMIM NCBI chr 5:70,054,683...70,233,459
Ensembl chr 5:70,059,255...70,207,049
JBrowse link
familial cold autoinflammatory syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRC4 NLR family CARD domain containing 4 ISO OMIM
familial Mediterranean fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 no_association
susceptibility
treatment
ISO DNA:SNP,haplotype:exon:3435C>T(human)
DNA:SNP: :3435C>T(human)
RGD PMID:17610314 PMID:23408444 PMID:24773260 RGD:39456094 RGD:39456095 RGD:39456097 NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
JBrowse link
G ACE angiotensin I converting enzyme susceptibility ISO DNA:insertion/deletion:intron 16: RGD PMID:24680475 RGD:40400709 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:20518740 RGD:5686880 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
JBrowse link
G CAT catalase disease_progression ISO RGD PMID:22135646 RGD:9480233 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
JBrowse link
G CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 sexual_dimorphism ISO DNA:SNPs: :15713T>C,15615T>C (human) RGD PMID:23408444 RGD:39456097 NCBI chr 6:9,836,685...9,869,520
Ensembl chr 6:9,777,659...9,869,352
JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:blood plasma (human) RGD PMID:16721492 RGD:40818434 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
JBrowse link
G HAS2 hyaluronan synthase 2 IAGP Periodic Fever Syndrome OMIA PMID:1606750 PMID:20080661 PMID:20178474 PMID:21437276 PMID:21718367 PMID:24130694 PMID:25040095 PMID:27107962 PMID:28472921 NCBI chr13:20,310,946...20,342,647
Ensembl chr13:20,309,872...20,341,636
JBrowse link
G IGF1 insulin like growth factor 1 disease_progression ISO RGD PMID:21428190 RGD:5508806 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:16273770 RGD:8655877 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:serum RGD PMID:22384525 RGD:6482659 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20518740 RGD:5686880 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin ISO OMIM NCBI chr 6:37,964,776...37,984,830
Ensembl chr 6:37,970,608...37,983,737
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:missense mutations:cds:g.677C>T (rs1801133), g.1298A>C (rs1801131) (human) RGD PMID:28543752 RGD:38501050 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G NLRP12 NLR family pyrin domain containing 12 ISO ClinVar Annotator: match by term: Periodic fever syndrome ClinVar PMID:28492532 NCBI chr 1:103,571,756...103,605,692 JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 severity ISO DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human) RGD PMID:22244368 RGD:13204709 NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232
JBrowse link
G POMC proopiomelanocortin ISO protein: decreassed expression: plasma: ACTH RGD PMID:21428190 RGD:5508806 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Familial Periodic Fever ClinVar NCBI chr27:38,612,206...38,638,212
Ensembl chr27:38,612,194...38,638,980
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:22736074 RGD:13207415 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G THBD thrombomodulin ISO protein:increased expression:blood RGD PMID:17067436 RGD:5685013 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649
JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:19445990 RGD:7794686 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Familial Periodic Fever ClinVar NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
JBrowse link
Familial Mediterranean Fever, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEFV MEFV innate immuity regulator, pyrin ISO OMIM NCBI chr 6:37,964,776...37,984,830
Ensembl chr 6:37,970,608...37,983,737
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Familial mediterranean fever, autosomal dominant ClinVar PMID:14559814 PMID:16189274 PMID:17483355 PMID:18564920 PMID:20670955 PMID:22703879 PMID:24033266 PMID:24728327 PMID:25741868 PMID:27153395 PMID:28492532 PMID:28619094 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
JBrowse link
JMP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMA3 proteasome 20S subunit alpha 3 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC ClinVar PMID:21953331 PMID:26524591 NCBI chr 8:33,616,735...33,642,434
Ensembl chr 8:33,616,480...33,642,404
JBrowse link
G PSMB4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:26524591 NCBI chr17:60,461,208...60,463,604
Ensembl chr17:60,461,240...60,463,594
JBrowse link
G PSMB8 proteasome 20S subunit beta 8 ISO OMIM NCBI chr12:2,419,456...2,422,832
Ensembl chr12:2,378,126...2,432,303
JBrowse link
mevalonic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRP C-reactive protein disease_progression ISO RGD PMID:7780142 RGD:9585642 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
JBrowse link
G MMAB metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Mevalonic aciduria
ClinVar Annotator: match by term: Hyperimmunoglobulinemia D
ClinVar PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr26:17,519,158...17,531,200
Ensembl chr26:17,519,199...17,529,514
JBrowse link
G MVK mevalonate kinase ISO OMIM NCBI chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:7780142 RGD:9585642 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
Muckle-Wells syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1RN interleukin 1 receptor antagonist ISO RGD PMID:22146561 RGD:6906895 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO OMIM NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059
JBrowse link
otulipenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTULIN OTU deubiquitinase with linear linkage specificity ISO OMIM NCBI chr34:119,307...159,419
Ensembl chr34:122,274...159,394
JBrowse link
Periodic Fever, Menstrual Cycle-Dependent term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTR1A 5-hydroxytryptamine receptor 1A ISO OMIM NCBI chr 2:50,005,277...50,006,548
Ensembl chr 2:50,002,740...50,006,548
JBrowse link
PFAPA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOD2 nucleotide binding oligomerization domain containing 2 ISO DNA:mutations:cds RGD PMID:21914217 RGD:13204855 NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232
JBrowse link
Proteasome-Associated Autoinflammatory Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC477325 proteasome maturation protein ISO OMIM NCBI chr25:11,064,065...11,080,878 JBrowse link
Proteasome-Associated Autoinflammatory Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMB4 proteasome 20S subunit beta 4 ISO OMIM NCBI chr17:60,461,208...60,463,604
Ensembl chr17:60,461,240...60,463,594
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO OMIM NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069
JBrowse link
Proteasome-Associated Autoinflammatory Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMG2 proteasome assembly chaperone 2 ISO OMIM NCBI chr 7:78,092,877...78,112,831
Ensembl chr 7:78,092,876...78,112,702
JBrowse link
Proteasome-Associated Autoinflammatory Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMB10 proteasome 20S subunit beta 10 ISO OMIM NCBI chr 5:81,560,750...81,563,571
Ensembl chr 5:81,561,056...81,563,564
JBrowse link
STING-associated vasculopathy with onset in infancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STING1 stimulator of interferon response cGAMP interactor 1 ISO OMIM NCBI chr 2:34,783,947...34,792,204
Ensembl chr 2:34,784,232...34,789,072
JBrowse link
YAO SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOD2 nucleotide binding oligomerization domain containing 2 ISO OMIM NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13744
    disease of anatomical entity 13398
      Immune & Inflammatory Diseases 3273
        Inflammation 1931
          Hereditary Autoinflammatory Diseases 115
            AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY 1
            Autoinflammation with Arthritis and Dyskeratosis 1
            Autoinflammation with Infantile Enterocolitis 7
            Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated 1
            Autoinflammation, Immunde Dysregulation, and Eosinophilia 2
            Behcet's disease 71
            Cryopyrin-Associated Periodic Syndromes + 12
            Deficiency of Interleukin-1 Receptor Antagonist 2
            PFAPA Syndrome 1
            Periodic Fever, Menstrual Cycle-Dependent 1
            Proteasome-Associated Autoinflammatory Syndromes + 7
            STING-associated vasculopathy with onset in infancy 1
            YAO SYNDROME 1
            autosomal dominant familial periodic fever 2
            familial Mediterranean fever + 22
            mevalonic aciduria 5
            otulipenia 1
Path 2
Term Annotations click to browse term
  disease 13744
    disease of anatomical entity 13398
      nervous system disease 0
        sensory system disease 5147
          skin disease 2711
            Genetic Skin Diseases 988
              Hereditary Autoinflammatory Diseases 115
                AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY 1
                Autoinflammation with Arthritis and Dyskeratosis 1
                Autoinflammation with Infantile Enterocolitis 7
                Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated 1
                Autoinflammation, Immunde Dysregulation, and Eosinophilia 2
                Behcet's disease 71
                Cryopyrin-Associated Periodic Syndromes + 12
                Deficiency of Interleukin-1 Receptor Antagonist 2
                PFAPA Syndrome 1
                Periodic Fever, Menstrual Cycle-Dependent 1
                Proteasome-Associated Autoinflammatory Syndromes + 7
                STING-associated vasculopathy with onset in infancy 1
                YAO SYNDROME 1
                autosomal dominant familial periodic fever 2
                familial Mediterranean fever + 22
                mevalonic aciduria 5
                otulipenia 1
paths to the root