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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: Hereditary Autoinflammatory Disease;   Hereditary Recurrent Fever;   Reimann periodic disease;   Siegal Cattan Mamou disease;   hereditary autoinflammation disease;   hereditary autoinflammation diseases;   hereditary periodic fever syndromes;   hereditary recurrent fevers
 primary_id: MESH:D056660
 xref: OMIM:PS256040
For additional species annotation, visit the Alliance of Genome Resources.


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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 NCBI chr 6:22,167,874...22,194,755
Ensembl chr 6:22,167,919...22,194,250
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26642243 NCBI chr 1:14,401,103...14,416,369
Ensembl chr 1:14,402,913...14,412,807
JBrowse link
Autoinflammation with Arthritis and Dyskeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Autoinflammation with arthritis and dyskeratosis OMIM
ClinVar
PMID:16918630, PMID:25741868, PMID:27965258 NCBI chr10:57,692,474...57,747,608
Ensembl chr10:57,692,474...57,822,498
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 ClinVar Annotator: match by term: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY ClinVar
OMIM
PMID:31827280, PMID:31827281 NCBI chr17:31,537,580...31,569,904
Ensembl chr17:31,537,591...31,569,904
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 chr 6:22,296,128...22,316,894
Ensembl chr 6:22,296,128...22,316,894
JBrowse link
G Memo1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:22,362,483...22,409,583
Ensembl chr 6:22,362,484...22,409,579
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by OMIM:616050
ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis
ClinVar Annotator: match by term: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS
ClinVar
OMIM
PMID:24033266, PMID:25217959, PMID:25217960, PMID:25385754, PMID:25741868, PMID:27974463, PMID:28492532, PMID:29778503 NCBI chr 6:22,167,874...22,194,755
Ensembl chr 6:22,167,919...22,194,250
JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:22,197,003...22,226,364
Ensembl chr 6:22,197,040...22,226,421
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:25,279,635...25,315,501
Ensembl chr 6:25,279,626...25,315,511
JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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 ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated
ClinVar Annotator: match by OMIM:614878
OMIM
ClinVar
PMID:23000145, PMID:25741868, PMID:28492532, PMID:30619256 NCBI chr19:50,039,410...50,173,543
Ensembl chr19:50,045,020...50,173,220
JBrowse link
Autoinflammation, Immunde Dysregulation, and Eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: ATOPIC DERMATITIS, ENTERITIS, COLITIS, AND EOSINOPHILIA OMIM
ClinVar
PMID:20167706, PMID:25356970, PMID:28111307, PMID:32750333 NCBI chr 5:119,982,503...120,091,452
Ensembl chr 5:119,982,943...120,083,904
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 chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS)
ClinVar Annotator: match by OMIM:142680
OMIM
ClinVar
PMID:1402641, PMID:6635178, PMID:7156325, PMID:9529351, PMID:9585614, PMID:10199409, PMID:10902757, PMID:11175303, PMID:11443543, PMID:11722598, PMID:11817598, PMID:12209523, PMID:12352631, PMID:12520003, PMID:12905494, PMID:13130484, PMID:14610673, PMID:15216558, PMID:15280569, PMID:15492850, PMID:16508982, PMID:16635178, PMID:16684962, PMID:18180277, PMID:18408954, PMID:18512793, PMID:19917181, PMID:20576331, PMID:21029567, PMID:21420073, PMID:22311714, PMID:22801493, PMID:22918594, PMID:23322460, PMID:23745996, PMID:23965844, PMID:24033266, PMID:24064022, PMID:24393624, PMID:25326637, PMID:25387410, PMID:25637003, PMID:25741868, PMID:25936627, PMID:26299986, PMID:26598380, PMID:26821543, PMID:26965498, PMID:26992170, PMID:27068928, PMID:28427379, PMID:28492532 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
Behcet's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO DNA:missense mutation, snps, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) RGD PMID:22705826 RGD:8657073 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Ace angiotensin I converting enzyme susceptibility
no_association
ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15961928, PMID:15045629 RGD:7829810, RGD:8142349 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Cat catalase ISO protein:decreased activity:erythrocyte:
CTD Direct Evidence: marker/mechanism
CTD PMID:12074830, PMID:17206395 RGD:9068907 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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:19782713, PMID:12712358 RGD:8548882, RGD:8549488 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
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:15501397, PMID:15009175, PMID:17067435 RGD:4892106, RGD:8551827, RGD:8551814 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cfb complement factor B ISO RGD PMID:6900632 RGD:7411737 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cpb2 carboxypeptidase B2 ISO RGD PMID:15668188 RGD:1598474 NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO DNA:SNPs: :1661A>G,49C>A(human) RGD PMID:19563524 RGD:7411682 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:SNPs: :4889A>G, 4887C>A (human) RGD PMID:15088300 RGD:8552789 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 2:1,410,877...1,449,734
Ensembl chr 2:1,410,934...1,449,733
JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa susceptibility ISO DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19026120 RGD:5508432 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility
no_association
ISO DNA:polymorphism: :p.K469E (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:p.R241G (human)
CTD PMID:8712863, PMID:12074830, PMID:12808331, PMID:11409120, PMID:10792421 RGD:8158115, RGD:8547575, RGD:8158123 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifng interferon gamma ISO associated with Uveitis; protein:increased expression:aqueous humor:
protein:increased expression:serum:
RGD PMID:21334264, PMID:2154346 RGD:8142356, RGD:8142377 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Il10 interleukin 10 disease_progression
onset
susceptibility
treatment
ISO DNA, protein:hypermethylation, decreased expression:promoter, serum
DNA:SNP:promoter:-592A>C (rs1800872) (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20622878, PMID:20622879, PMID:15980236, PMID:26654556, PMID:29719061, PMID:29294320, PMID:21506890 RGD:1598628, RGD:14975256, RGD:14975149, RGD:14975131, RGD:7364843 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 susceptibility
no_association
ISO DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human)
DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human)
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
RGD PMID:14727452, PMID:15234532, PMID:21532063, PMID:16273766, PMID:17055358 RGD:4889844, RGD:8655927, RGD:8655926, RGD:8655910, RGD:8655897 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 NCBI chr 9:47,184,404...47,217,403
Ensembl chr 9:47,185,443...47,219,175
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 ISO DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:21724243 RGD:6892926 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNP: :rs1884444(human)
DNA:SNPs,haplotype::rs17375018, rs11209032(human);
RGD PMID:22483685, PMID:20375120 RGD:8549550, RGD:8549565 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 ISO protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO RGD PMID:12412731 RGD:1582300 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Itgal integrin subunit alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 1:198,744,053...198,781,745
Ensembl chr 1:198,744,050...198,781,750
JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
G Mbl2 mannose binding lectin 2 severity
susceptibility
ISO protein:decreased secretion:serum (human)
DNA:polymorphisms:5' utr, exon:multiple (human)
RGD PMID:15693089, PMID:15730518 RGD:1582155, RGD:1582154 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:30366049, PMID:27156371 RGD:21409751, RGD:25671481 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17949555 RGD:8657044 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma, platelets RGD PMID:22116092, PMID:17949555 RGD:8547820, RGD:8657044 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:15663505 RGD:8552650 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility
no_association
ISO DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)
ClinVar Annotator: match by term: Behcet's syndrome
DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)
ClinVar PMID:28492532, PMID:19748964, PMID:15515785 RGD:8158059, RGD:13204711 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility
no_association
ISO DNA:snp:cds:p.E298D (human)
DNA:duplication:intron:g.IVS4?-?+27 (human)
DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
RGD PMID:11908569, PMID:21957880, PMID:15705632, PMID:16463158 RGD:7771576, RGD:7775050, RGD:7775048, RGD:7771577 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO RGD PMID:14507116 RGD:1580692 NCBI chr16:81,784,348...81,797,889
Ensembl chr16:81,784,348...81,797,815
JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:28492532 NCBI chr 8:60,760,040...60,799,364
Ensembl chr 8:60,760,078...60,799,361
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 chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:multiple (human) RGD PMID:23396137 RGD:7483565 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 no_association
disease_progression
ISO DNA:polymorphisms:cds:HLA-B*51 (human)
severe disease; DNA:polymorphisms:cds:HLA-B*51 (human, Turkish)
DNA:polymorphisms:cds:HLA-B*15 (human)
RGD PMID:16101830, PMID:11426025, PMID:12622781 RGD:7364873, RGD:7364939, RGD:7364918
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :DRB1*0802(human) RGD PMID:1358857 RGD:7365104 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G RT1-DMa RT1 class II, locus DMa no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr20:3,935,512...3,938,915
Ensembl chr20:5,240,975...5,244,386
JBrowse link
G RT1-DMb RT1 class II, locus DMb no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr20:3,945,383...3,952,838
Ensembl chr20:5,227,045...5,234,290
JBrowse link
G RT1-M5 RT1 class Ib, locus M5 ISO DNA:polymorphisms:cds:HLA-B*51 (human, Turkish) RGD PMID:11426025 RGD:7364939 NCBI chr20:2,038,158...2,040,422
Ensembl chr20:2,038,158...2,040,422
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12074830, PMID:18341631 RGD:8547693 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Stat3 signal transducer and activator of transcription 3 no_association ISO DNA:SNP: :rs2293152 (human)
DNA:SNP: :rs744166, rs2293152 (human)
RGD PMID:22205606, PMID:23127549 RGD:6483021, RGD:8694309 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)
CTD PMID:23291587, PMID:20438790, PMID:23001997 RGD:8661713, RGD:8661718 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr2 toll-like receptor 2 no_association
susceptibility
ISO protein,mRNA:increased expression:peripheral blood mononuclear cell
mRNA:increased expression:intestine:
DNA:polymorphism: :12408G>A(human)
DNA:SNPs: : rs2289318,rs3804099(human)
RGD PMID:23908180, PMID:18336589, PMID:19796535, PMID:24255044 RGD:8552883, RGD:8552915, RGD:8552888, RGD:8552885 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr3 toll-like receptor 3 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tlr4 toll-like receptor 4 no_association
susceptibility
ISO mRNA:increased expression:mononulcear cell:
mRNA:increased expression:intestine:
DNA:polymorphism: :1896A>G,11196C>T(human)
DNA:SNP:3'UTR: rs7037117(human)
RGD PMID:18234118, PMID:18336589, PMID:19796535, PMID:18408113 RGD:7777175, RGD:8552915, RGD:8552888, RGD:7777176 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor no_association ISO DNA:SNP:promoter:-308G>A (human)
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)
associated with Uveitis;protein:increased expression:aqueous humor:
protein:increased expression:serum
RGD PMID:20601837, PMID:12770792, PMID:15875188, PMID:12632436, PMID:21334264, PMID:14600787 RGD:7394759, RGD:12904048, RGD:12904040, RGD:12904036, RGD:8142356, RGD:7401213 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum
ClinVar Annotator: match by term: Behcet's syndrome
ClinVar PMID:28492532, PMID:14600787 RGD:7401213 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Vdr vitamin D receptor no_association ISO DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)
RGD PMID:21820934, PMID:21820934 RGD:8158077, RGD:8158077 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vim vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:15849757 RGD:1580642 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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 ClinVar Annotator: match by term: CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME
ClinVar Annotator: match by term: Prieur Griscelli syndrome
ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome
ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3
ClinVar
OMIM
PMID:49161, PMID:11687797, PMID:11992256, PMID:12032915, PMID:12355493, PMID:12522564, PMID:14630794, PMID:14872505, PMID:15020601, PMID:16081838, PMID:16255047, PMID:17038455, PMID:17213252, PMID:17393462, PMID:17509468, PMID:18263599, PMID:18311798, PMID:19319132, PMID:19501000, PMID:20159265, PMID:20182451, PMID:21109514, PMID:21245836, PMID:21621776, PMID:22128899, PMID:22193915, PMID:22403613, PMID:22512814, PMID:22524199, PMID:22529966, PMID:22566169, PMID:22661645, PMID:22843550, PMID:22935299, PMID:23015306, PMID:23421920, PMID:24033266, PMID:24098386, PMID:24123366, PMID:24135410, PMID:24158955, PMID:24365011, PMID:24431285, PMID:24517500, PMID:24649046, PMID:24773462, PMID:25038238, PMID:25586466, PMID:25596455, PMID:25741868, PMID:25766347, PMID:25821352, PMID:25979514, PMID:26020059, PMID:26033552, PMID:26178285, PMID:26218404, PMID:26273672, PMID:26386126, PMID:26467025, PMID:26531310, PMID:26535712, PMID:26590045, PMID:26848126, PMID:27036377, PMID:27060062, PMID:27191192, PMID:27819323, PMID:27943647, PMID:27994174, PMID:28028683, PMID:28137891, PMID:28185410, PMID:28421071, PMID:28492532, PMID:28692792, PMID:29102545, PMID:29117789, PMID:29148409, PMID:29239927, PMID:29977033, PMID:30214525, PMID:30311386 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
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 IMP associated with Peripheral Nerve Injuries; RGD PMID:21068322 RGD:10043615 NCBI chr 5:3,783,247...3,836,485
Ensembl chr 5:3,783,247...3,836,485
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 chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:16899778 RGD:8549803 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Mme membrane metallo-endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12928894 NCBI chr 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:22,167,874...22,194,755
Ensembl chr 6:22,167,919...22,194,250
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by OMIM:607115
ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome
ClinVar Annotator: match by term: Familial cold urticaria
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome
ClinVar
CTD
PMID:49161, PMID:447320, PMID:5173311, PMID:11687797, PMID:11992256, PMID:12032915, PMID:12355493, PMID:12522564, PMID:12928894, PMID:14630794, PMID:14872505, PMID:15020601, PMID:15334500, PMID:15593220, PMID:15724022, PMID:15801036, PMID:16081838, PMID:16100350, PMID:16255047, PMID:16802372, PMID:16920754, PMID:17038455, PMID:17178739, PMID:17213252, PMID:17393462, PMID:17509468, PMID:17513575, 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: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:25584041, PMID:25586466, PMID:25596455, PMID:25619352, 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:27943647, PMID:27994174, PMID:28028683, PMID:28137891, PMID:28185410, PMID:28421071, PMID:28492532, PMID:28501347, PMID:28692792, PMID:28847925, PMID:29047407, PMID:29102545, PMID:29117789, PMID:29148409, PMID:29163488, PMID:29239927, PMID:29322034, PMID:29611406, PMID:29977033, PMID:29988644, PMID:30214525, PMID:30338413, PMID:30431487 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
G Olr1462 olfactory receptor 1462 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532, PMID:29611406 NCBI chr10:45,921,715...45,924,257
Ensembl chr10:45,922,873...45,923,829
JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:50,039,410...50,173,543
Ensembl chr19:50,045,020...50,173,220
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 ClinVar Annotator: match by term: Osteomyelitis, sterile multifocal, with periostitis and pustulosis
ClinVar Annotator: match by term: Interleukin 1 receptor antagonist deficiency
ClinVar
OMIM
PMID:12837270, PMID:16519819, PMID:19280228, PMID:19494218, PMID:19494219, PMID:19729864, PMID:20213597, PMID:20842532, PMID:21279638, PMID:22032624, PMID:22127713, PMID:24033266, PMID:24863340, PMID:25501066, PMID:25741868, PMID:28236224, PMID:28492532 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Osteomyelitis, sterile multifocal, with periostitis and pustulosis ClinVar NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
Familial Autoinflammatory Syndrome, Behcet-like term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfaip3 TNF alpha induced protein 3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar
OMIM
PMID:24728327, PMID:26642243, PMID:28492532 NCBI chr 1:14,401,103...14,416,369
Ensembl chr 1:14,402,913...14,412,807
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 1:64,506,750...64,543,908
Ensembl chr 1:64,506,735...64,534,912
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:12355493, PMID:14872505, 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:26531310, PMID:27994174, PMID:28492532, PMID:28692792 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
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 ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1
ClinVar Annotator: match by OMIM:120100
OMIM
ClinVar
PMID:11687797, PMID:11992256, PMID:12032915, PMID:12522564, PMID:15020601, PMID:16100350, PMID:16255047, PMID:17178739, PMID:17509468, PMID:18263599, PMID:18311798, PMID:19319132, PMID:19501000, PMID:20182451, PMID:20472245, PMID:21109514, PMID:21245836, PMID:21356079, PMID:21621776, PMID:22128899, PMID:22193915, PMID:22403613, PMID:22524199, PMID:22529966, PMID:22843550, PMID:22935299, PMID:23015306, PMID:23442610, PMID:23703389, PMID:24033266, PMID:24098386, PMID:24135410, PMID:24158955, PMID:24365011, PMID:24431285, PMID:24517500, PMID:24649046, PMID:24759409, PMID:24773462, PMID:25586466, PMID:25596455, PMID:25730877, PMID:25741868, PMID:25766347, PMID:25821352, 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:27191192, PMID:27819323, PMID:27943647, PMID:28028683, PMID:28137891, PMID:28185410, PMID:28421071, PMID:28492532, PMID:28692792, PMID:29047407, PMID:29102545, PMID:29117789, PMID:29148409, PMID:29322034, PMID:29977033, PMID:30214525, PMID:30431487 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
familial cold autoinflammatory syndrome 2 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 2
ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO
OMIM
ClinVar
PMID:18230725, PMID:21360512, PMID:21538323, PMID:24033266, PMID:24064030, PMID:25064839, PMID:25741868, PMID:26386126, PMID:27314497, PMID:27633793, PMID:28492532, PMID:30788684 NCBI chr 1:64,506,750...64,543,908
Ensembl chr 1:64,506,735...64,534,912
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 ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3
ClinVar Annotator: match by OMIM:614468
OMIM
ClinVar
PMID:22236196, PMID:25741868, PMID:28492532, PMID:29590070, PMID:29921932, PMID:30273710, PMID:30344948, PMID:30619256 NCBI chr19:50,039,410...50,173,543
Ensembl chr19:50,045,020...50,173,220
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 ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 OMIM
ClinVar
PMID:25385754, PMID:27974463, PMID:28492532, PMID:29778503 NCBI chr 6:22,167,874...22,194,755
Ensembl chr 6:22,167,919...22,194,250
JBrowse link
familial Mediterranean fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A treatment
no_association
susceptibility
ISO DNA:SNP: :3435C>T(human)
DNA:SNP,haplotype:exon:3435C>T(human)
RGD PMID:17610314, PMID:23408444, PMID:24773260 RGD:39456094, RGD:39456097, RGD:39456095 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Ace angiotensin I converting enzyme susceptibility ISO DNA:insertion/deletion:intron 16: RGD PMID:24680475 RGD:40400709 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:20518740 RGD:5686880 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Cat catalase disease_progression ISO RGD PMID:22135646 RGD:9480233 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cyp3a62 cytochrome P450, family 3, subfamily a, polypeptide 62 sexual_dimorphism ISO DNA:SNPs: :15713T>C,15615T>C (human) RGD PMID:23408444 RGD:39456097 NCBI chr12:18,679,809...18,709,397
Ensembl chr12:18,678,594...18,709,397
JBrowse link
G Igf1 insulin-like growth factor 1 disease_progression ISO RGD PMID:21428190 RGD:5508806 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:16273770 RGD:8655877 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:22384525 RGD:6482659 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20518740 RGD:5686880 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO DNA:mutations:exons
ClinVar Annotator: match by term: Familial Mediterranean fever
ClinVar Annotator: match by OMIM:249100
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons:p. M694V,V726A,E148Q,M680I (human);
ClinVar
CTD
OMIM
PMID:4015155, PMID:5340644, PMID:5458961, PMID:7677151, PMID:9288094, PMID:9288758, PMID:9336425, PMID:9527614, PMID:9668175, PMID:9781020, PMID:10024914, PMID:10090880, PMID:10234504, PMID:10364520, PMID:10447272, PMID:10612841, PMID:10737992, PMID:10737995, PMID:10787449, PMID:10842288, PMID:10852276, PMID:10854105, PMID:10854115, PMID:10879615, PMID:10905662, PMID:10980540, PMID:11017802, PMID:11139259, PMID:11156548, PMID:11175300, PMID:11242116, PMID:11464238, PMID:11464248, PMID:11468188, PMID:11470495, PMID:11484206, PMID:11588211, PMID:11903360, PMID:11938447, PMID:11977178, PMID:12064853, PMID:12105243, PMID:12124996, PMID:12180071, PMID:12401847, PMID:12520003, PMID:12687559, PMID:12908875, PMID:12929299, PMID:12955725, PMID:14578331, PMID:14578333, PMID:14636645, PMID:14679589, PMID:14727057, PMID:14985395, PMID:15018633, PMID:15020340, PMID:15024744, PMID:15168590, PMID:15458961, PMID:15475974, PMID:15502081, PMID:15643295, PMID:15717684, PMID:15720244, PMID:15745878, PMID:15805719, PMID:15868622, PMID:15942916, PMID:15951859, PMID:16100353, PMID:16179998, PMID:16255051, PMID:16378925, PMID:16403826, PMID:16439335, PMID:16439437, PMID:16498449, PMID:16523438, PMID:16614989, PMID:16627024, PMID:16730661, PMID:16785446, PMID:16802374, PMID:16889173, PMID:17276496, PMID:17329916, PMID:17331080, PMID:17489852, PMID:17566872, PMID:17665427, PMID:17938136, PMID:18097735, PMID:18307385, PMID:18328141, PMID:18353061, PMID:18386244, PMID:18409191, PMID:18609258, PMID:18662100, PMID:18691160, PMID:19026119, PMID:19151977, PMID:19193696, PMID:19253030, PMID:19262573, PMID:19449169, PMID:19466506, PMID:19479870, PMID:19531756, PMID:19729025, PMID:19762364, PMID:19777236, PMID:19784369, PMID:19786432, PMID:19790133, PMID:19820229, PMID:19845843, PMID:19863562, PMID:19877056, PMID:19934082, PMID:19934083, PMID:19934105, PMID:19967574, PMID:20008920, PMID:20008924, PMID:20041150, PMID:20044784, PMID:20051664, PMID:20165923, PMID:20177433, PMID:20301405, PMID:20437121, PMID:20483145, PMID:20485448, PMID:20525738, PMID:20534143, PMID:20602240, PMID:20645115, PMID:20669279, PMID:20721559, PMID:20890251, PMID:20981092, PMID:21153919, PMID:21228398, PMID:21246368, PMID:21290976, PMID:21329287, PMID:21358337, PMID:21413889, PMID:21520333, PMID:21562927, PMID:21598804, PMID:21598806, PMID:21600797, PMID:21623663, PMID:21727933, PMID:21995303, PMID:22019805, PMID:22037353, PMID:22190688, PMID:22207183, PMID:22261745, PMID:22281876, PMID:22337722, PMID:22451026, PMID:22467954, PMID:22505824, PMID:22532615, PMID:22566169, PMID:22580583, PMID:22614345, PMID:22661645, PMID:22722202, PMID:22810696, PMID:22878273, PMID:22903357, PMID:22906030, PMID:22934972, PMID:22975760, PMID:22995991, PMID:23006543, PMID:23010357, PMID:23031807, PMID:23038988, PMID:23070486, PMID:23137073, PMID:23155201, PMID:23166428, PMID:23206577, PMID:23217869, PMID:23280696, PMID:23291246, PMID:23302539, PMID:23325590, PMID:23334425, PMID:23400211, PMID:23437051, PMID:23463692, PMID:23505238, PMID:23505242, PMID:23524442, PMID:23588594, PMID:23592051, PMID:23633568, PMID:23716950, PMID:23800337, PMID:23844200, PMID:23847694, PMID:23862117, PMID:23867542, PMID:23907647, PMID:23973724, PMID:23981758, PMID:24033266, PMID:24071932, PMID:24082139, PMID:24117178, PMID:24158885, PMID:24233262, PMID:24251727, PMID:24261781, PMID:24263150, PMID:24289199, PMID:24301775, PMID:24318677, PMID:24381109, PMID:24383976, PMID:24424166, PMID:24433404, PMID:24469716, PMID:24702757, PMID:24760114, PMID:24797171, PMID:24862656, PMID:24929125, PMID:24950168, PMID:24965843, PMID:25006247, PMID:25036384, PMID:25073670, PMID:25088882, PMID:25203624, PMID:25261100, PMID:25286988, PMID:25332561, PMID:25393764, PMID:25615955, PMID:25626331, PMID:25648235, PMID:25671271, PMID:25703702, PMID:25708585, PMID:25741868, PMID:25760918, PMID:25793047, PMID:25821352, PMID:25866490, PMID:25959027, PMID:25974247, PMID:26003477, PMID:26027984, PMID:26028444, PMID:26131005, PMID:26215181, PMID:26247045, PMID:26299986, PMID:26351556, PMID:26360812, PMID:26413094, PMID:26467025, PMID:26510601, PMID:26537665, PMID:26554556, PMID:26574972, PMID:26585190, PMID:26620106, PMID:26690517, PMID:26722138, PMID:26759267, PMID:26843738, PMID:26933204, PMID:27030597, PMID:27100444, PMID:27310525, PMID:27332769, PMID:27364639, PMID:27457448, PMID:27473114, PMID:27513391, PMID:27535533, PMID:27621632, PMID:27659338, PMID:27733942, PMID:27838405, PMID:27872624, PMID:27884173, PMID:27980538, PMID:27994174, PMID:28001092, PMID:28211254, PMID:28289585, PMID:28302131, PMID:28340799, PMID:28386255, PMID:28421071, PMID:28483595, PMID:28492532, PMID:28573371, PMID:28590056, PMID:28597968, PMID:28750028, PMID:28863210, PMID:28927886, PMID:28943464, PMID:29047407, PMID:29080837, PMID:29148036, PMID:29159471, PMID:29178647, PMID:29260407, PMID:29314707, PMID:29363386, PMID:29379228, PMID:29526930, PMID:29543225, PMID:29579081, PMID:29599418, PMID:29735907, PMID:29927949, PMID:30171907, PMID:30235678, PMID:30311386, PMID:30355575, PMID:30407166, PMID:30409984, PMID:30476289, PMID:30546872, PMID:30996171, PMID:31204589, PMID:31264586, PMID:31411330, PMID:31998953, PMID:32401353, PMID:20217092, PMID:23038988, PMID:23862117 RGD:5129184, RGD:7349344, RGD:7349343 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nlrp12 NLR family, pyrin domain containing 12 ISO ClinVar Annotator: match by term: Periodic fever syndrome ClinVar PMID:28492532 NCBI chr 1:64,506,750...64,543,908
Ensembl chr 1:64,506,735...64,534,912
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 chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Pomc proopiomelanocortin ISO protein: decreassed expression: plasma: ACTH RGD PMID:21428190 RGD:5508806 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Familial Periodic Fever ClinVar NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:22736074 RGD:13207415 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:blood RGD PMID:17067436 RGD:5685013 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:19445990 RGD:7794686 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Familial Periodic Fever ClinVar NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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 ClinVar Annotator: match by term: Familial mediterranean fever, autosomal dominant
ClinVar Annotator: match by term: FMF, AUTOSOMAL DOMINANT
OMIM
ClinVar
PMID:4015155, PMID:5340644, PMID:5458961, PMID:7677151, PMID:9288094, PMID:9288758, PMID:9527614, PMID:9668175, PMID:9781020, PMID:10024914, PMID:10090880, PMID:10234504, PMID:10364520, PMID:10447272, PMID:10612841, PMID:10737992, PMID:10737995, PMID:10787449, PMID:10842288, PMID:10854115, PMID:10879615, PMID:10905662, PMID:10980540, PMID:11017802, PMID:11156548, PMID:11175300, PMID:11464238, PMID:11464248, PMID:11468188, PMID:11484206, PMID:11588211, PMID:11903360, PMID:11938447, PMID:11977178, PMID:12064853, PMID:12105243, PMID:12180071, PMID:12401847, PMID:12687559, PMID:12908875, PMID:12929299, PMID:12955725, PMID:14679589, PMID:14727057, PMID:15168590, PMID:15458961, PMID:15643295, PMID:15717684, PMID:15745878, PMID:15805719, PMID:15868622, PMID:15942916, PMID:15951859, PMID:16179998, PMID:16255051, PMID:16378925, PMID:16439335, PMID:16439437, PMID:16627024, PMID:16785446, PMID:16889173, PMID:17331080, PMID:17489852, PMID:18097735, PMID:18328141, PMID:18353061, PMID:18386244, PMID:18662100, PMID:19026119, PMID:19151977, PMID:19466506, PMID:19790133, PMID:19820229, PMID:19863562, PMID:19967574, PMID:20008920, PMID:20041150, PMID:20051664, PMID:20301405, PMID:20437121, PMID:20483145, PMID:20485448, PMID:20534143, PMID:20602240, PMID:20669279, PMID:20890251, PMID:21290976, PMID:21358337, PMID:21413889, PMID:21598804, PMID:21600797, PMID:21623663, PMID:21995303, PMID:22037353, PMID:22261745, PMID:22532615, PMID:22614345, PMID:22661645, PMID:22878273, PMID:23334425, PMID:23400211, PMID:23588594, PMID:23592051, PMID:23844200, PMID:23907647, PMID:23973724, PMID:24033266, PMID:24082139, PMID:24289199, PMID:24318677, PMID:24424166, PMID:24433404, PMID:24469716, PMID:24797171, PMID:24965843, PMID:25073670, PMID:25261100, PMID:25393764, PMID:25708585, PMID:25741868, PMID:25760918, PMID:25866490, PMID:25959027, PMID:26003477, PMID:26131005, PMID:26247045, PMID:26351556, PMID:26360812, PMID:26467025, PMID:26510601, PMID:26537665, PMID:26690517, PMID:27030597, PMID:27364639, PMID:27457448, PMID:27513391, PMID:27659338, PMID:27994174, PMID:28001092, PMID:28386255, PMID:28492532, PMID:28573371, PMID:28927886, PMID:29047407, PMID:29080837, PMID:29178647, PMID:29314707, PMID:29599418, PMID:30171907, PMID:30311386, PMID:31204589 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
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 chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
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 6:93,423,029...93,444,223
Ensembl chr 6:93,423,002...93,444,240
JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:26524591 NCBI chr 2:196,043,546...196,046,320
Ensembl chr 2:196,043,618...196,046,311
JBrowse link
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC
OMIM
ClinVar
PMID:8495043, PMID:20159315, PMID:20534754, PMID:21129723, PMID:21852578, PMID:21881205, PMID:21953331, PMID:24033266, PMID:25741868, PMID:26524591, PMID:28492532 NCBI chr20:3,990,809...3,993,772
Ensembl chr20:3,990,613...3,993,769
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 chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
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 chr12:47,920,712...47,935,438
Ensembl chr12:47,920,743...47,935,525
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Mevalonic aciduria
ClinVar Annotator: match by term: Hyperimmunoglobulinemia D
ClinVar Annotator: match by term: Periodic fever Dutch type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:260920
ClinVar Annotator: match by OMIM:610377
OMIM
ClinVar
CTD
PMID:1377680, PMID:8386351, PMID:9334262, PMID:10369261, PMID:10369262, PMID:10401001, PMID:10417275, PMID:10896296, PMID:11111075, PMID:11313768, PMID:11313769, PMID:12387810, PMID:12444096, PMID:12477733, PMID:12563048, PMID:12634869, PMID:13130485, PMID:15188372, PMID:15457465, PMID:15536479, PMID:15804303, PMID:16255052, PMID:16435210, PMID:16707534, PMID:16835861, PMID:17105862, PMID:17596604, PMID:18008182, PMID:18414213, PMID:19011501, PMID:19786432, PMID:19877056, PMID:20194276, PMID:21228398, PMID:21399979, PMID:21425920, PMID:21478439, PMID:21548022, PMID:21708801, PMID:22038276, PMID:22246419, PMID:22983302, PMID:23006543, PMID:23146290, PMID:23692791, PMID:23707710, PMID:23834120, PMID:23979089, PMID:23998246, PMID:24033266, PMID:24073415, PMID:24084495, PMID:24088041, PMID:24177804, PMID:24233262, PMID:24360083, PMID:24411001, PMID:24470648, PMID:24531851, PMID:24561416, PMID:25708585, PMID:25741868, PMID:25866490, PMID:26116953, PMID:26299986, PMID:26386126, PMID:26633545, PMID:26935981, PMID:26977311, PMID:27012807, PMID:27142780, PMID:27213830, PMID:27377765, PMID:28095071, PMID:28492532, PMID:28501347, PMID:29047407, PMID:30148429, PMID:30311386 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:7780142 RGD:9585642 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: UDA syndrome
ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME
ClinVar Annotator: match by OMIM:191900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11687797, PMID:11992256, PMID:12032915, PMID:12522564, PMID:15020601, PMID:16100350, PMID:16255047, PMID:17178739, PMID:17509468, PMID:18263599, PMID:18311798, PMID:19319132, PMID:19501000, PMID:20182451, PMID:20472245, PMID:21109514, PMID:21245836, PMID:21356079, PMID:21621776, PMID:22128899, PMID:22193915, PMID:22403613, PMID:22524199, PMID:22529966, PMID:22843550, PMID:22935299, PMID:23015306, PMID:23442610, PMID:23703389, PMID:24033266, PMID:24098386, PMID:24135410, PMID:24158955, PMID:24365011, PMID:24431285, PMID:24517500, PMID:24649046, PMID:24759409, PMID:24773462, PMID:25586466, PMID:25596455, PMID:25730877, PMID:25741868, PMID:25766347, PMID:25821352, 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:27191192, PMID:27819323, PMID:27943647, PMID:28028683, PMID:28137891, PMID:28185410, PMID:28421071, PMID:28492532, PMID:28692792, PMID:29047407, PMID:29102545, PMID:29117789, PMID:29148409, PMID:29322034, PMID:29977033, PMID:30214525, PMID:30431487 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
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 ClinVar Annotator: match by term: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME ClinVar
OMIM
PMID:27523608, PMID:27559085 NCBI chr 2:80,267,724...80,293,204
Ensembl chr 2:80,269,587...80,293,181
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 ClinVar Annotator: match by OMIM:614674 OMIM
ClinVar
PMID:21990073 NCBI chr 2:36,246,628...36,247,896
Ensembl chr 2:36,246,628...36,247,896
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 chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomp proteasome maturation protein ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 ClinVar
OMIM
PMID:12022327, PMID:25741868, PMID:26524591, PMID:29805043 NCBI chr12:8,746,948...8,759,433
Ensembl chr12:8,746,855...8,759,599
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 ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 ClinVar
OMIM
PMID:21953331, PMID:26524591 NCBI chr 2:196,043,546...196,046,320
Ensembl chr 2:196,043,618...196,046,311
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 ClinVar
OMIM
PMID:26524591 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
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 ClinVar Annotator: match by term: Sting-associated vasculopathy, infantile-onset OMIM
ClinVar
PMID:24033266, PMID:25029335, PMID:25401470, PMID:25741868, PMID:26235147, PMID:27613991, PMID:28087229, PMID:28484079, PMID:28492532, PMID:29367762, PMID:30311386 NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Immune & Inflammatory Diseases 3513
        Inflammation 2172
          Hereditary Autoinflammatory Diseases 108
            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 1
            Behcet's disease + 73
            Cryopyrin-Associated Periodic Syndromes + 9
            Deficiency of Interleukin-1 Receptor Antagonist 2
            PFAPA Syndrome 1
            Periodic Fever, Menstrual Cycle-Dependent 1
            Proteasome-Associated Autoinflammatory Syndromes + 5
            STING-associated vasculopathy with onset in infancy 1
            autosomal dominant familial periodic fever 2
            familial Mediterranean fever + 20
            mevalonic aciduria 5
            otulipenia 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            Genetic Skin Diseases 891
              Hereditary Autoinflammatory Diseases 108
                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 1
                Behcet's disease + 73
                Cryopyrin-Associated Periodic Syndromes + 9
                Deficiency of Interleukin-1 Receptor Antagonist 2
                PFAPA Syndrome 1
                Periodic Fever, Menstrual Cycle-Dependent 1
                Proteasome-Associated Autoinflammatory Syndromes + 5
                STING-associated vasculopathy with onset in infancy 1
                autosomal dominant familial periodic fever 2
                familial Mediterranean fever + 20
                mevalonic aciduria 5
                otulipenia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.