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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 NCBI chr17:74,426,255...74,459,144
Ensembl chr17:74,425,438...74,459,142
JBrowse link
G Tnfaip3 tumor necrosis factor, alpha-induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26642243 NCBI chr10:19,000,910...19,015,410
Ensembl chr10:19,000,910...19,015,657
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 chr11:71,091,197...71,144,969
Ensembl chr11:71,092,236...71,144,704
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 (TNFRSF)-interacting serine-threonine kinase 1 ISO ClinVar Annotator: match by term: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY ClinVar
OMIM
PMID:31827280 PMID:31827281 NCBI chr13:34,002,225...34,035,170
Ensembl chr13:34,002,363...34,037,147
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 chr17:74,299,474...74,323,944
Ensembl chr17:74,299,474...74,323,944
JBrowse link
G Memo1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr17:74,186,764...74,295,682
Ensembl chr17:74,199,036...74,295,521
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS
ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis
ClinVar Annotator: match by OMIM:616050
ClinVar
OMIM
PMID:24033266 PMID:25217959 PMID:25217960 PMID:25385754 PMID:25741868 PMID:27974463 PMID:28166811 PMID:28492532 PMID:29326099 PMID:29778503 PMID:30319625 PMID:30783801 PMID:30864118 NCBI chr17:74,426,255...74,459,144
Ensembl chr17:74,425,438...74,459,142
JBrowse link
G Slc30a6 solute carrier family 30 (zinc transporter), member 6 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr17:74,395,578...74,424,229
Ensembl chr17:74,395,608...74,424,221
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr17:74,337,923...74,391,115
Ensembl chr17:74,338,987...74,391,115
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr17:74,014,891...74,047,860
Ensembl chr17:74,016,955...74,047,916
JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr17:73,883,895...73,950,397
Ensembl chr17:73,883,895...73,950,196
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 chr 8:117,498,275...117,635,142
Ensembl chr 8:117,498,291...117,635,142
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 ISO Oculoskeletal dysplasia 1 OMIA PMID:830631 PMID:1525714 PMID:3204050 PMID:20686772 PMID:22065099 PMID:31415586 PMID:31595625 NCBI chr 2:180,598,102...180,622,192
Ensembl chr 2:180,597,790...180,622,189
JBrowse link
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 4:101,151,974...101,265,282
Ensembl chr 4:101,152,367...101,265,282
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, nonvoltage-gated 1 alpha ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar NCBI chr 6:125,314,271...125,344,943
Ensembl chr 6:125,320,659...125,344,943
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO
IEA
ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS)
OMIM:142680
ClinVar Annotator: match by OMIM:142680
OMIM
ClinVar
MouseDO
PMID:1144354 PMID:1402641 PMID:6635178 PMID:7156325 PMID:9529351 PMID:9536098 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:17576681 PMID:18180277 PMID:18408954 PMID:18512793 PMID:19917181 PMID:20576331 PMID:21029567 PMID:21420073 PMID:22311714 PMID:22566169 PMID:22801493 PMID:22918594 PMID:23117241 PMID:23322460 PMID:23745996 PMID:23965844 PMID:24033266 PMID:24064022 PMID:24393624 PMID:25326637 PMID:25387410 PMID:25640679 PMID:25741868 PMID:25936627 PMID:26598380 PMID:27332769 PMID:28166811 PMID:28427379 PMID:28492532 PMID:28814775 PMID:29047407 NCBI chr 6:125,349,723...125,362,483
Ensembl chr 6:125,349,362...125,362,484
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, sub-family B (MDR/TAP), member 1A ISO DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) RGD PMID:22705826 RGD:8657073 NCBI chr 5:8,567,091...8,748,575
Ensembl chr 5:8,660,077...8,748,575
JBrowse link
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 susceptibility
no_association
ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15961928, PMID:15045629 RGD:7829810, RGD:8142349 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr16:23,146,536...23,157,968
Ensembl chr16:23,146,536...23,158,028
JBrowse link
G Ahr aryl-hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr12:35,497,979...35,534,989
Ensembl chr12:35,497,974...35,535,038
JBrowse link
G Apoa1 apolipoprotein A-I ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 9:46,228,630...46,230,469
Ensembl chr 9:46,228,580...46,230,466
JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr12:7,977,629...8,016,839
Ensembl chr12:7,977,648...8,016,835
JBrowse link
G Cat catalase ISO protein:decreased activity:erythrocyte:
CTD Direct Evidence: marker/mechanism
CTD PMID:12074830, PMID:17206395 RGD:9068907 NCBI chr 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
G Ccl2 chemokine (C-C motif) 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 chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccr1 chemokine (C-C motif) receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 9:123,962,126...123,968,692
Ensembl chr 9:123,962,124...123,968,692
JBrowse link
G Ccr5 chemokine (C-C motif) 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 9:124,121,543...124,127,183
Ensembl chr 9:124,121,543...124,147,699
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Cfb complement factor B ISO RGD PMID:6900632 RGD:7411737 NCBI chr17:34,856,374...34,862,514
Ensembl chr17:34,856,374...34,862,518
JBrowse link
G Cpb2 carboxypeptidase B2 (plasma) ISO RGD PMID:15668188 RGD:1598474 NCBI chr14:75,242,287...75,283,555
Ensembl chr14:75,242,287...75,283,555
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
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 1:60,909,025...60,915,832
Ensembl chr 1:60,887,000...60,915,832
JBrowse link
G Cxcl15 chemokine (C-X-C motif) ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 5:90,794,534...90,803,067
Ensembl chr 5:90,794,534...90,803,067
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 9:57,687,928...57,703,824
Ensembl chr 9:57,687,928...57,703,824
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr13:74,639,573...74,693,205
Ensembl chr13:74,639,568...74,693,201
JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) severity ISO protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV susceptibility ISO DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19026120 RGD:5508432 NCBI chr 1:171,018,926...171,029,761
Ensembl chr 1:171,018,920...171,029,761
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphisms:cds:multiple (human) RGD PMID:23396137 RGD:7483565 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G H2-DMa histocompatibility 2, class II, locus DMa no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr17:34,119,693...34,139,101
Ensembl chr17:34,119,541...34,139,101
JBrowse link
G H2-DMb1 histocompatibility 2, class II, locus Mb1 no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr17:34,153,191...34,160,229
Ensembl chr17:34,153,072...34,160,230
JBrowse link
G H2-DMb2 histocompatibility 2, class II, locus Mb2 no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr17:34,143,229...34,151,553
Ensembl chr17:34,143,307...34,151,555
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism: :DRB1*0802(human) RGD PMID:1358857 RGD:7365104 NCBI chr17:34,305,867...34,316,674
Ensembl chr17:34,305,867...34,316,674
JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-B*15 (human)
CTD
RGD
PMID:12622781 PMID:20622878 PMID:23396137 RGD:7364918 NCBI chr17:37,480,851...37,483,554
Ensembl chr17:37,480,851...37,483,552
JBrowse link
G H2-M5 histocompatibility 2, M region locus 5 ISO DNA:polymorphisms:cds:HLA-B*51 (human, Turkish) RGD PMID:11426025 RGD:7364939 NCBI chr17:36,983,785...36,997,955
Ensembl chr17:36,984,061...36,989,537
JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 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 NCBI chr17:35,379,617...35,384,674
Ensembl chr17:35,379,617...35,385,290
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
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 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
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 chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO DNA:missense mutation:cds:1217A>T(D406V)(human) RGD PMID:20412081 RGD:12791269 NCBI chr  X:74,393,233...74,456,792
Ensembl chr  X:74,393,290...74,453,854
JBrowse link
G Il10 interleukin 10 disease_progression
onset
susceptibility
treatment
ISO
IDA
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 chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr 1:20,730,905...20,734,496
Ensembl chr 1:20,730,905...20,734,496
JBrowse link
G Il18 interleukin 18 susceptibility
no_association
ISO
IMP
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 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 NCBI chr 1:40,465,552...40,500,854
Ensembl chr 1:40,465,552...40,500,854
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
JBrowse link
G Il2 interleukin 2 ISO DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:21724243 RGD:6892926 NCBI chr 7:125,603,252...125,634,397
Ensembl chr 7:125,603,429...125,633,570
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 6:67,422,932...67,491,855
Ensembl chr 6:67,422,932...67,491,855
JBrowse link
G Il4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G Il6 interleukin 6 ISO protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Itga2 integrin alpha 2 susceptibility ISO RGD PMID:12412731 RGD:1582300 NCBI chr13:114,833,081...114,932,100
Ensembl chr13:114,833,081...114,932,100
JBrowse link
G Itgal integrin alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 7:127,296,139...127,335,137
Ensembl chr 7:127,296,260...127,335,138
JBrowse link
G Itgb2 integrin beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr10:77,530,329...77,565,708
Ensembl chr10:77,530,252...77,565,708
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility
severity
ISO DNA:polymorphisms:5' utr, exon:multiple (human)
protein:decreased secretion:serum (human)
RGD PMID:15730518, PMID:15693089 RGD:1582154, RGD:1582155 NCBI chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
JBrowse link
G Mefv Mediterranean fever ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar NCBI chr16:3,706,974...3,718,211
Ensembl chr16:3,707,218...3,718,097
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:30366049, PMID:27156371 RGD:21409751, RGD:25671481 NCBI chr16:84,714,140...84,714,204
Ensembl chr16:84,714,140...84,714,204
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17949555 RGD:8657044 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma, platelets RGD PMID:22116092, PMID:17949555 RGD:8547820, RGD:8657044 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) susceptibility ISO DNA:polymorphisms: : RGD PMID:15663505 RGD:8552650 NCBI chr 8:67,494,875...67,502,644
Ensembl chr 8:67,494,858...67,502,584
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 chr 8:88,647,315...88,688,474
Ensembl chr 8:88,647,315...88,688,474
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell 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 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO RGD PMID:14507116 RGD:1580692 NCBI chr 8:13,060,584...13,076,026
Ensembl chr 8:13,060,914...13,076,026
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 9:56,078,445...56,128,890
Ensembl chr 9:56,089,962...56,128,888
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) no_association ISO DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) RGD PMID:17660222, PMID:22396730 RGD:6484733, RGD:7829745 NCBI chr 3:103,856,575...103,912,252
Ensembl chr 3:103,859,795...103,912,247
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12074830, PMID:18341631 RGD:8547693 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ISO DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr 1:74,375,014...74,386,057
Ensembl chr 1:74,375,195...74,386,062
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr16:90,220,762...90,226,333
Ensembl chr16:90,220,754...90,226,329
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 chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540
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 1:51,987,106...52,107,189
Ensembl chr 1:51,987,148...52,107,189
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
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 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tlr3 toll-like receptor 3 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr 8:45,395,665...45,411,075
Ensembl chr 8:45,395,665...45,411,080
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 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
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 chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO protein:increased expression:serum
ClinVar Annotator: match by term: Behcet's syndrome
ClinVar PMID:28492532 PMID:28814775, PMID:14600787 RGD:7401213 NCBI chr 6:125,349,723...125,362,483
Ensembl chr 6:125,349,362...125,362,484
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor no_association ISO DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)
RGD PMID:21820934, PMID:21820934 RGD:8158077, RGD:8158077 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Vim vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr 2:13,574,311...13,582,826
Ensembl chr 2:13,573,927...13,582,826
JBrowse link
G Vwf Von Willebrand factor ISO RGD PMID:15849757 RGD:1580642 NCBI chr 6:125,552,948...125,686,679
Ensembl chr 6:125,546,774...125,686,679
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 IEA
ISO
OMIM:607115
ClinVar Annotator: match by term: Prieur Griscelli syndrome
ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3
ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome
ClinVar Annotator: match by term: CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME
MouseDO
ClinVar
OMIM
PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 PMID:12522564 PMID:14630794 PMID:14872505 PMID:15020601 PMID:15593220 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:25639832 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:27943240 PMID:27943647 PMID:27994174 PMID:28028683 PMID:28137891 PMID:28166811 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28692792 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29239927 PMID:29922587 PMID:29977033 PMID:30214525 PMID:30407166 PMID:30808881 PMID:32082075 PMID:32199921 NCBI chr11:59,541,569...59,566,955
Ensembl chr11:59,541,568...59,566,956
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 chr 1:14,872,644...14,918,862
Ensembl chr 1:14,872,648...14,918,862
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 1:20,730,905...20,734,496
Ensembl chr 1:20,730,905...20,734,496
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:16899778 RGD:8549803 NCBI chr 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
JBrowse link
G Mme membrane metallo endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12928894 NCBI chr 3:63,295,211...63,383,713
Ensembl chr 3:63,241,537...63,386,030
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:74,426,255...74,459,144
Ensembl chr17:74,425,438...74,459,142
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Familial cold urticaria
ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome
ClinVar
CTD
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 chr11:59,541,569...59,566,955
Ensembl chr11:59,541,568...59,566,956
JBrowse link
G Olfr222 olfactory receptor 222 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 PMID:29611406 NCBI chr11:59,570,782...59,571,738
Ensembl chr11:59,570,255...59,576,235
JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:117,498,275...117,635,142
Ensembl chr 8:117,498,291...117,635,142
JBrowse link
G Slc6a5 solute carrier family 6 (neurotransmitter transporter, glycine), member 5 ISO Hyperekplexia (Startle disease) OMIA PMID:6524730 PMID:21420493 PMID:30847549 NCBI chr 7:49,906,984...49,963,864
Ensembl chr 7:49,910,146...49,963,856
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:9536098 PMID:12837270 PMID:16519819 PMID:17576681 PMID:19280228 PMID:19494218 PMID:19494219 PMID:19729864 PMID:20213597 PMID:20842532 PMID:21279638 PMID:21792839 PMID:22032624 PMID:22127713 PMID:22940634 PMID:24033266 PMID:24863340 PMID:25501066 PMID:25741868 PMID:26100510 PMID:28236224 PMID:28492532 NCBI chr 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
JBrowse link
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha ISO ClinVar Annotator: match by term: Osteomyelitis, sterile multifocal, with periostitis and pustulosis ClinVar NCBI chr12:55,489,409...55,492,647
Ensembl chr12:55,489,410...55,492,647
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 7:3,218,643...3,249,771
Ensembl chr 7:3,218,784...3,249,740
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 chr11:59,541,569...59,566,955
Ensembl chr11:59,541,568...59,566,956
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
IEA
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1
ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1
OMIM:120100
ClinVar Annotator: match by OMIM:120100
OMIM
ClinVar
MouseDO
PMID:49161 PMID:447320 PMID:5173311 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 PMID:12483741 PMID:12522564 PMID:14630794 PMID:14872505 PMID:15020601 PMID:15334500 PMID:15593220 PMID:15724022 PMID:15801036 PMID:16081838 PMID:16100350 PMID:16255047 PMID:16646042 PMID:16802372 PMID:16920754 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17284928 PMID:17393462 PMID:17509468 PMID:17513575 PMID:18063752 PMID:18080732 PMID:18263599 PMID:18311798 PMID:19319132 PMID:19501000 PMID:20159265 PMID:20182451 PMID:20472245 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:21702021 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:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24365011 PMID:24431285 PMID:24517500 PMID:24649046 PMID:24759409 PMID:24773462 PMID:25038238 PMID:25584041 PMID:25586466 PMID:25596455 PMID:25639832 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: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:29047407 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29163488 PMID:29322034 PMID:29922587 PMID:29977033 PMID:29988644 PMID:30214525 PMID:30311386 PMID:30338413 PMID:30407166 PMID:30431487 PMID:30808881 PMID:32082075 PMID:32199921 NCBI chr11:59,541,569...59,566,955
Ensembl chr11:59,541,568...59,566,956
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 7:3,289,038...3,299,355
Ensembl chr 7:3,289,080...3,300,442
JBrowse link
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:9536098 PMID:17576681 PMID:18230725 PMID:21360512 PMID:21538323 PMID:24033266 PMID:24064030 PMID:25064839 PMID:25741868 PMID:26386126 PMID:27314497 PMID:27633793 PMID:28166811 PMID:28492532 PMID:29500522 PMID:30788684 PMID:31820221 NCBI chr 7:3,218,643...3,249,771
Ensembl chr 7:3,218,784...3,249,740
JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr 7:3,303,532...3,331,099
Ensembl chr 7:3,289,179...3,331,099
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:9536098 PMID:17576681 PMID:22236196 PMID:25640679 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29590070 PMID:29921932 PMID:30273710 PMID:30344948 PMID:30619256 NCBI chr 8:117,498,275...117,635,142
Ensembl chr 8:117,498,291...117,635,142
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
IEA
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
OMIM:616115
OMIM
ClinVar
MouseDO
PMID:25385754 PMID:25741868 PMID:27974463 PMID:28492532 PMID:29778503 NCBI chr17:74,426,255...74,459,144
Ensembl chr17:74,425,438...74,459,142
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, sub-family B (MDR/TAP), 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 5:8,567,091...8,748,575
Ensembl chr 5:8,660,077...8,748,575
JBrowse link
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 susceptibility ISO DNA:insertion/deletion:intron 16: RGD PMID:24680475 RGD:40400709 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:20518740 RGD:5686880 NCBI chr16:23,146,536...23,157,968
Ensembl chr16:23,146,536...23,158,028
JBrowse link
G Cat catalase disease_progression ISO RGD PMID:22135646 RGD:9480233 NCBI chr 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
G Cyp3a11 cytochrome P450, family 3, subfamily a, polypeptide 11 sexual_dimorphism ISO DNA:SNPs: :15713T>C,15615T>C (human) RGD PMID:23408444 RGD:39456097 NCBI chr 5:145,854,607...145,879,854
Ensembl chr 5:145,854,426...145,879,964
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:blood plasma (human) RGD PMID:16721492 RGD:40818434 NCBI chr 2:91,612,397...91,636,457
Ensembl chr 2:91,625,320...91,636,414
JBrowse link
G Has2 hyaluronan synthase 2 ISO Periodic Fever Syndrome OMIA PMID:1606750 PMID:20080661 PMID:20178474 PMID:21437276 PMID:21718367 PMID:24130694 PMID:25040095 PMID:27107962 PMID:28472921 NCBI chr15:56,665,627...56,694,546
Ensembl chr15:56,665,627...56,694,539
JBrowse link
G Igf1 insulin-like growth factor 1 disease_progression ISO RGD PMID:21428190 RGD:5508806 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:16273770 RGD:8655877 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:22384525 RGD:6482659 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20518740 RGD:5686880 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Mefv Mediterranean fever ISO
IEA
DNA:mutations:exons
ClinVar Annotator: match by term: Familial Mediterranean fever
OMIM:134610 | OMIM:249100
ClinVar Annotator: match by OMIM:249100
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons:p. M694V,V726A,E148Q,M680I (human);
ClinVar
MouseDO
CTD
OMIM
PMID:4015155 PMID:5340644 PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 PMID:9336425 PMID:9527614 PMID:9536098 PMID:9668175 PMID:9781020 PMID:10024914 PMID:10090880 PMID:10234504 PMID:10364520 PMID:10447272 PMID:10611954 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:15300846 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:17576681 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:20688806 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:30355575 PMID:30407166 PMID:30409984 PMID:30476289 PMID:30546872 PMID:30783801 PMID:30887796 PMID:30996171 PMID:31204589 PMID:31264586 PMID:31411330 PMID:31531243 PMID:31620089 PMID:31646357 PMID:31989427 PMID:31998953 PMID:32082075 PMID:32199921 PMID:32401353 PMID:32909274 PMID:33223529, PMID:20217092, PMID:23038988, PMID:23862117 RGD:5129184, RGD:7349344, RGD:7349343 NCBI chr16:3,706,974...3,718,211
Ensembl chr16:3,707,218...3,718,097
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 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Nlrp12 NLR family, pyrin domain containing 12 ISO ClinVar Annotator: match by term: Periodic fever syndrome ClinVar PMID:28492532 NCBI chr 7:3,218,643...3,249,771
Ensembl chr 7:3,218,784...3,249,740
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 8:88,647,315...88,688,474
Ensembl chr 8:88,647,315...88,688,474
JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO protein: decreassed expression: plasma: ACTH RGD PMID:21428190 RGD:5508806 NCBI chr12:3,954,945...3,960,643
Ensembl chr12:3,954,951...3,960,642
JBrowse link
G Scnn1a sodium channel, nonvoltage-gated 1 alpha ISO ClinVar Annotator: match by term: Familial Periodic Fever ClinVar NCBI chr 6:125,314,271...125,344,943
Ensembl chr 6:125,320,659...125,344,943
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 susceptibility ISO DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:22736074 RGD:13207415 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:blood RGD PMID:17067436 RGD:5685013 NCBI chr 2:148,404,471...148,408,188
Ensembl chr 2:148,404,466...148,408,188
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:19445990 RGD:7794686 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO ClinVar Annotator: match by term: Familial Periodic Fever ClinVar NCBI chr 6:125,349,723...125,362,483
Ensembl chr 6:125,349,362...125,362,484
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 Mediterranean fever ISO ClinVar Annotator: match by term: Familial mediterranean fever, 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:10852276 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:12180071 PMID:12401847 PMID:12687559 PMID:12929299 PMID:12955725 PMID:15168590 PMID:15458961 PMID:15643295 PMID:15717684 PMID:15745878 PMID:15805719 PMID:15868622 PMID:15942916 PMID:15951859 PMID:16378925 PMID:16439437 PMID:16627024 PMID:16785446 PMID:16889173 PMID:17331080 PMID:17489852 PMID:17566872 PMID:18097735 PMID:18307385 PMID:18328141 PMID:18353061 PMID:18386244 PMID:18662100 PMID:19026119 PMID:19253030 PMID:19449169 PMID:19466506 PMID:19790133 PMID:19820229 PMID:19845843 PMID:19863562 PMID:19967574 PMID:20008920 PMID:20041150 PMID:20051664 PMID:20177433 PMID:20301405 PMID:20437121 PMID:20483145 PMID:20485448 PMID:20534143 PMID:20602240 PMID:20669279 PMID:20890251 PMID:21153919 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:22975760 PMID:23206577 PMID:23334425 PMID:23400211 PMID:23588594 PMID:23592051 PMID:23800337 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:25648235 PMID:25708585 PMID:25741868 PMID:25760918 PMID:25866490 PMID:25959027 PMID:25974247 PMID:26003477 PMID:26131005 PMID:26247045 PMID:26351556 PMID:26360812 PMID:26413094 PMID:26467025 PMID:26537665 PMID:26690517 PMID:26722138 PMID:26759267 PMID:27030597 PMID:27364639 PMID:27457448 PMID:27473114 PMID:27659338 PMID:27994174 PMID:28001092 PMID:28386255 PMID:28421071 PMID:28492532 PMID:28573371 PMID:28927886 PMID:29047407 PMID:29080837 PMID:29178647 PMID:29314707 PMID:29543225 PMID:29599418 PMID:30171907 PMID:31204589 PMID:32082075 PMID:33223529 NCBI chr16:3,706,974...3,718,211
Ensembl chr16:3,707,218...3,718,097
JBrowse link
G Met met proto-oncogene 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 6:17,463,349...17,573,980
Ensembl chr 6:17,463,800...17,573,980
JBrowse link
JMP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psma3 proteasome subunit alpha 3 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC ClinVar PMID:21953331 PMID:26524591 NCBI chr12:70,969,283...70,995,877
Ensembl chr12:70,974,621...70,996,347
JBrowse link
G Psmb4 proteasome (prosome, macropain) subunit, beta type 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:26524591 NCBI chr 3:94,884,324...94,886,958
Ensembl chr 3:94,884,093...94,886,961
JBrowse link
G Psmb8 proteasome (prosome, macropain) subunit, beta type 8 (large multifunctional peptidase 7) 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 chr17:34,198,195...34,201,454
Ensembl chr17:34,197,721...34,201,454
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, pentraxin-related disease_progression ISO RGD PMID:7780142 RGD:9585642 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr13:96,648,962...96,670,936
Ensembl chr13:96,648,967...96,670,936
JBrowse link
G Mmab methylmalonic aciduria (cobalamin deficiency) cblB type homolog (human) 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 chr 5:114,431,034...114,444,073
Ensembl chr 5:114,431,034...114,444,060
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Mevalonic aciduria
ClinVar Annotator: match by term: Mevalonate kinase deficiency
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:9536098 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:16197847 PMID:16199547 PMID:16255052 PMID:16435210 PMID:16707534 PMID:16835861 PMID:17105862 PMID:17576681 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:22566169 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:26202976 PMID:26299986 PMID:26386126 PMID:26409462 PMID:26633545 PMID:26935981 PMID:26977311 PMID:27012807 PMID:27142780 PMID:27213830 PMID:27377765 PMID:28095071 PMID:28492532 PMID:28501347 PMID:28814775 PMID:29047407 PMID:30148429 PMID:31096039 NCBI chr 5:114,444,264...114,460,591
Ensembl chr 5:114,444,269...114,460,591
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:7780142 RGD:9585642 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
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 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by OMIM:191900
ClinVar Annotator: match by term: UDA syndrome
ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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:25639832 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:27943240 PMID:27943647 PMID:28028683 PMID:28137891 PMID:28166811 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28692792 PMID:29047407 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29322034 PMID:29977033 PMID:30214525 PMID:30431487 PMID:32082075 PMID:32199921 NCBI chr11:59,541,569...59,566,955
Ensembl chr11:59,541,568...59,566,956
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 Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome
ClinVar
OMIM
PMID:25741868 PMID:27523608 PMID:27559085 NCBI chr15:27,597,055...27,630,977
Ensembl chr15:27,542,635...27,630,693
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 (serotonin) receptor 1A ISO ClinVar Annotator: match by OMIM:614674 OMIM
ClinVar
PMID:21990073 NCBI chr13:105,443,693...105,448,133
Ensembl chr13:105,443,639...105,448,122
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 8:88,647,315...88,688,474
Ensembl chr 8:88,647,315...88,688,474
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 chr 5:147,860,628...147,875,784
Ensembl chr 5:147,860,461...147,876,456
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 (prosome, macropain) subunit, beta type 4 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 3
ClinVar
OMIM
PMID:21953331 PMID:25741868 PMID:26524591 NCBI chr 3:94,884,324...94,886,958
Ensembl chr 3:94,884,093...94,886,961
JBrowse link
G Psmb9 proteasome (prosome, macropain) subunit, beta type 9 (large multifunctional peptidase 2) ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 ClinVar
OMIM
PMID:26524591 NCBI chr17:34,182,030...34,187,330
Ensembl chr17:34,181,987...34,187,764
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 (prosome, macropain) assembly chaperone 2 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 OMIM
ClinVar
PMID:30664889 NCBI chr18:67,641,587...67,654,181
Ensembl chr18:67,641,599...67,654,162
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 (prosome, macropain) subunit, beta type 10 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5 OMIM
ClinVar
PMID:31783057 NCBI chr 8:105,935,728...105,938,392
Ensembl chr 8:105,935,735...105,938,444
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:28166811 PMID:28484079 PMID:28492532 PMID:29367762 PMID:30463976 PMID:30794020 NCBI chr18:35,733,678...35,740,554
Ensembl chr18:35,733,679...35,740,554
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 ClinVar Annotator: match by term: Yao syndrome ClinVar
OMIM
PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 PMID:11910337 PMID:12019468 PMID:12512038 PMID:12557156 PMID:12577202 PMID:14765395 PMID:15024686 PMID:15190267 PMID:15198989 PMID:15571588 PMID:15770725 PMID:15967635 PMID:18240302 PMID:18489434 PMID:18541930 PMID:19467619 PMID:19713276 PMID:20959815 PMID:21274544 PMID:21335489 PMID:21548950 PMID:21830272 PMID:21914217 PMID:22684479 PMID:23102769 PMID:24033266 PMID:25741868 PMID:26070941 PMID:26500656 PMID:28492532 NCBI chr 8:88,647,315...88,688,474
Ensembl chr 8:88,647,315...88,688,474
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14439
    disease of anatomical entity 14033
      Immune & Inflammatory Diseases 3491
        Inflammation 2089
          Hereditary Autoinflammatory Diseases 119
            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 75
            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 14439
    disease of anatomical entity 14033
      nervous system disease 0
        sensory system disease 5394
          skin disease 2817
            Genetic Skin Diseases 1040
              Hereditary Autoinflammatory Diseases 119
                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 75
                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