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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 chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248 		JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26642243 NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282 		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:17377159 PMID:24033266 PMID:25741868 PMID:27965258 More... NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31827280 PMID:31827281 NCBI chr17:30,839,639...30,871,824
Ensembl chr17:30,839,650...30,871,824 		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 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432 		JBrowse link
G Memo1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:21,144,525...21,234,363
Ensembl chr 6:21,125,639...21,234,561 		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: Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25217959 More... NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248 		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 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		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 syndrome | ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated OMIM
ClinVar		 PMID:23000145 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30619256 More... NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930 		JBrowse link
Autoinflammation, Immunde Dysregulation, and Eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a3 collagen type IX alpha 3 chain ISO Oculoskeletal dysplasia 1 OMIA PMID:830631 PMID:1525714 PMID:3204050 PMID:20686772 PMID:22065099 More... NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465 		JBrowse link
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: ATOPIC DERMATITIS, ENTERITIS, COLITIS, AND EOSINOPHILIA OMIM
ClinVar		 PMID:20167706 PMID:24728327 PMID:25356970 PMID:25741868 PMID:28111307 More... NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926 		JBrowse link
AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED ClinVar
OMIM		 PMID:31874111 PMID:35289316 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Autoinflammatory-pancytopenia syndrome ClinVar
OMIM		 PMID:29259162 PMID:31775019 NCBI chr19:23,244,661...23,247,329
Ensembl chr19:23,244,664...23,247,376 		JBrowse link
autosomal dominant familial periodic fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213 		JBrowse link
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 1:174,053,931...174,078,345
Ensembl chr 1:174,053,931...174,078,341 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701 		JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592 		JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,668,878...157,695,366 JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541 		JBrowse link
G Clec4b2 C-type lectin domain family 4, member B2 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:156,462,742...156,486,240
Ensembl chr 4:156,462,742...156,486,240 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769 		JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,766,626...157,792,632
Ensembl chr 4:157,766,588...157,773,948 		JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:155,851,461...155,854,845
Ensembl chr 4:155,815,296...155,854,861 		JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980 		JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:156,047,043...156,073,540
Ensembl chr 4:156,046,969...156,073,518 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173 		JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,662,200...157,668,341 JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,551,276...157,552,924 JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,945,075...157,962,302
Ensembl chr 4:157,945,107...157,962,302 		JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,841,882...157,850,519
Ensembl chr 4:157,841,951...157,850,265 		JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,712,665...157,722,229
Ensembl chr 4:157,712,667...157,720,404 		JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,870,493...157,883,970
Ensembl chr 4:157,881,796...157,882,950 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,581,285...157,592,188
Ensembl chr 4:157,581,291...157,591,860 		JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539 		JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332 		JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,523,679...157,523,747 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,739,651...157,744,325
Ensembl chr 4:157,728,756...157,744,317 		JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,991,756...157,994,715
Ensembl chr 4:157,992,408...157,995,414 		JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116 		JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020 		JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:156,103,935...156,119,068
Ensembl chr 4:156,103,988...156,119,068 		JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,932,731...157,944,462
Ensembl chr 4:157,932,716...157,944,459 		JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,646,238...157,662,035
Ensembl chr 4:157,646,243...157,695,509 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,517,662...157,522,268
Ensembl chr 4:157,517,577...157,522,272 		JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,796,425...157,804,842
Ensembl chr 4:157,798,808...157,804,842 		JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,722,384...157,726,575
Ensembl chr 4:157,722,386...157,727,009 		JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472 		JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,612,921...157,615,293
Ensembl chr 4:157,613,401...157,615,284 		JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:158,021,454...158,028,905 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) OMIM
ClinVar		 PMID:1402641 PMID:7156325 PMID:9529351 PMID:9536098 PMID:9585614 More... NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,619,643...157,634,711
Ensembl chr 4:157,619,643...157,634,711 		JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349 		JBrowse link
G Zfp384 zinc finger protein 384 ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:28492532 NCBI chr 4:157,810,263...157,840,052
Ensembl chr 4:157,810,352...157,839,766 		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 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Cat catalase ISO protein:decreased activity:erythrocyte:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12074830 PMID:17206395 RGD:9068907 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 8:123,556,286...123,561,841 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 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO ClinVar Annotator: match by term: Behcet disease ClinVar NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634 		JBrowse link
G Cfb complement factor B ISO RGD PMID:6900632 RGD:7411737 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO RGD PMID:15668188 RGD:1598474 NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556 		JBrowse link
G Crp C-reactive protein ISO protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178 		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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447 		JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fcgr3a Fc gamma receptor 3A susceptibility ISO DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19026120 RGD:5508432 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		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
RGD		 PMID:8712863 PMID:12074830 PMID:12808331 PMID:11409120 PMID:10792421 RGD:8158115, RGD:8547575, RGD:8158123 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		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 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		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:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		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
RGD		 PMID:20622878 PMID:20622879 PMID:15980236 PMID:26654556 PMID:29719061 More... RGD:1598628, RGD:14975256, RGD:14975149, RGD:14975131, RGD:7364843 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		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 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO ClinVar Annotator: match by term: Behcet disease ClinVar PMID:25741868 NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il2 interleukin 2 ISO DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:21724243 RGD:6892926 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522 		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 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Il4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il6 interleukin 6 ISO protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO RGD PMID:12412731 RGD:1582300 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Itgal integrin subunit alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 1:181,918,183...181,955,735
Ensembl chr 1:181,918,183...181,955,732 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		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 1:228,016,439...228,024,736 JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Behcet disease ClinVar PMID:25741868 PMID:28814775 PMID:31411330 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:30366049 PMID:27156371 RGD:21409751, RGD:25671481 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17949555 RGD:8657044 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma, platelets RGD PMID:22116092 PMID:17949555 RGD:8547820, RGD:8657044 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:15663505 RGD:8552650 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520 		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 disease
DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)		 ClinVar
RGD		 PMID:28492532 PMID:19748964 PMID:15515785 RGD:8158059, RGD:13204711 NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177 		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 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO RGD PMID:14507116 RGD:1580692 NCBI chr16:76,450,013...76,463,558
Ensembl chr16:76,450,013...76,463,480 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Behcet disease | ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580 		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 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:multiple (human) RGD PMID:23396137 RGD:7483565 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		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 NCBI chr20:3,314,984...3,318,037 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :DRB1*0802(human) RGD PMID:1358857 RGD:7365104 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G RT1-DMa RT1 class II, locus DMa no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr20:4,707,028...4,710,432
Ensembl chr20:4,707,028...4,710,432 		JBrowse link
G RT1-DMb RT1 class II, locus DMb no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr20:4,693,102...4,700,340
Ensembl chr20:4,693,103...4,700,340 		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 chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12074830 PMID:18341631 RGD:8547693 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		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 chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		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
RGD		 PMID:23291587 PMID:20438790 PMID:23001997 RGD:8661713, RGD:8661718 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		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 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr3 toll-like receptor 3 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545 		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 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		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 More... RGD:7394759, RGD:12904048, RGD:12904040, RGD:12904036, RGD:8142356, RGD:7401213 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum
ClinVar Annotator: match by term: Behcet disease		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:14600787 RGD:7401213 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		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 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vim vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:15849757 RGD:1580642 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
Chediak-Higashi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31898847 NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935 		JBrowse link
G Arid4b AT-rich interaction domain 4B ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:51,138,419...51,262,956
Ensembl chr17:51,138,535...51,262,906 		JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308 		JBrowse link
G Card14 caspase recruitment domain family, member 14 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9536098 PMID:17576681 PMID:22521419 PMID:24033266 PMID:24999592 More... NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592 		JBrowse link
G Coa6 cytochrome c oxidase assembly factor 6 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr19:54,395,682...54,398,918
Ensembl chr19:54,395,742...54,399,407 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		JBrowse link
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:10581030 PMID:11675333 PMID:19036076 PMID:23463630 PMID:25703294 More... NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Ero1b endoplasmic reticulum oxidoreductase 1 beta ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:85,861,086...86,003,244
Ensembl chr17:85,929,618...86,003,398 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220 		JBrowse link
G Gng4 G protein subunit gamma 4 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:86,448,708...86,497,560
Ensembl chr17:86,449,022...86,495,254 		JBrowse link
G Gpr137b G protein-coupled receptor 137B ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:86,003,630...86,041,841
Ensembl chr17:85,966,921...86,041,835 		JBrowse link
G Heatr1 HEAT repeat containing 1 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:58,051,700...58,093,895
Ensembl chr17:58,051,700...58,093,948 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:12837270 PMID:16519819 PMID:19729864 PMID:20842532 PMID:21279638 More... NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il36rn interleukin 36 receptor antagonist ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:9536098 PMID:17576681 PMID:21839423 PMID:22428995 PMID:22903787 More... NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016 		JBrowse link
G Irf2bp2 interferon regulatory factor 2 binding protein 2 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr19:54,559,409...54,564,714
Ensembl chr19:54,560,128...54,566,642 		JBrowse link
G Itk IL2-inducible T-cell kinase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:9536098 PMID:17576681 PMID:22289921 PMID:25741868 PMID:28492532 NCBI chr10:30,753,339...30,814,685
Ensembl chr10:30,753,344...30,814,685 		JBrowse link
G Lgals8 galectin 8 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:58,024,652...58,052,764
Ensembl chr17:58,028,105...58,052,764 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:2809904 PMID:9536098 PMID:10969284 PMID:15994876 PMID:17576681 More... NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP
ISO		 ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar
OMIM
RGD		 PMID:8717042 PMID:8751863 PMID:8896560 PMID:9215679 PMID:9215680 More... RGD:633300 NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:1977178 PMID:2479171 PMID:4015155 PMID:5340644 PMID:5458961 More... NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:42,159,109...42,172,496
Ensembl chr12:42,159,089...42,172,490 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:1377680 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 More... NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Nid1 nidogen 1 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:86,085,046...86,158,277
Ensembl chr17:86,085,077...86,158,267 		JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248 		JBrowse link
G Nlrp12 NLR family, pyrin domain containing 12 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 More... NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:49161 PMID:447320 PMID:5173311 PMID:11687797 PMID:11992256 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9536098 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 More... NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:1156555 PMID:7851014 PMID:10583959 PMID:11179007 PMID:11565555 More... NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701 		JBrowse link
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532 NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 PMID:27577878 PMID:28166811 PMID:28492532 PMID:30290665 More... NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:10835631 PMID:15475639 PMID:16278825 PMID:18397837 PMID:19030707 More... NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829 		JBrowse link
G Rbm34 RNA binding motif protein 34 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr19:54,936,516...54,956,810
Ensembl chr19:54,936,531...54,956,715 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:22521419 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486 		JBrowse link
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:9771704 PMID:11049992 PMID:15711562 PMID:22970278 PMID:25741868 More... NCBI chr  X:121,373,693...121,401,923 JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:10631139 PMID:15776427 PMID:17764084 PMID:20301535 PMID:25741868 More... NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648 		JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335 		JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:24524345 PMID:25741868 PMID:28492532 NCBI chr 1:7,293,427...7,320,060
Ensembl chr 1:7,289,976...7,320,164 		JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:19804848 PMID:19884660 PMID:20558610 PMID:20798128 PMID:20823128 More... NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458 		JBrowse link
G Tarbp1 TAR (HIV-1) RNA binding protein 1 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr19:54,398,268...54,449,293
Ensembl chr19:54,398,253...54,449,261 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:10199409 PMID:11443543 PMID:16508982 PMID:16635178 PMID:16684962 More... NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tomm20 translocase of outer mitochondrial membrane 20 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr19:54,925,197...54,935,188
Ensembl chr19:54,923,402...54,935,198 		JBrowse link
G Unc13d unc-13 homolog D ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:10459864 PMID:14622600 PMID:16199547 PMID:16278825 PMID:16825436 More... NCBI chr10:101,296,755...101,311,513
Ensembl chr10:101,296,776...101,311,687 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:20517649 PMID:21119115 PMID:23944711 PMID:24033266 PMID:24616127 More... NCBI chr  X:120,890,537...120,938,413
Ensembl chr  X:120,897,907...120,934,700 		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: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3 | ClinVar Annotator: match by term: Chronic Infantile Neurological Cutaneous Articular syndrome | ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome | ClinVar Annotator: match by term: Prieur Griscelli syndrome OMIM
ClinVar		 PMID:49161 PMID:5173311 PMID:11687797 PMID:11992256 PMID:12032915 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		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 5:4,379,999...4,433,243
Ensembl chr 5:4,379,999...4,433,570 		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 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:16899778 RGD:8549803 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Mme membrane metallo-endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12928894 NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792 		JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar Annotator: match by term: Familial cold urticaria		 CTD
ClinVar		 PMID:49161 PMID:5173311 PMID:9536098 PMID:11687797 PMID:11992256 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Olr1433 olfactory receptor 1433 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr10:43,042,427...43,046,293
Ensembl chr10:43,037,857...43,046,701 		JBrowse link
G Or11l3 olfactory receptor family 11 subfamily L member 3 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr10:43,007,633...43,008,604
Ensembl chr10:43,004,087...43,013,122 		JBrowse link
G Or13g1 olfactory receptor family 13 subfamily G member 1 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr 1:139,864,790...139,865,713
Ensembl chr 1:139,863,413...139,873,029 		JBrowse link
G Or14p1 olfactory receptor family 14 subfamily P member 1 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr17:47,738...48,685
Ensembl chr17:47,738...48,685 		JBrowse link
G Or2b11 olfactory receptor family 2 subfamily B member 11 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 PMID:29611406 NCBI chr10:44,358,397...44,359,353
Ensembl chr10:44,357,668...44,362,937 		JBrowse link
G Or2g25 olfactory receptor family 2 subfamily G member 25 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr20:810,880...811,833
Ensembl chr20:807,707...815,510 		JBrowse link
G Or2y1h olfactory receptor family 2 subfamily Y member 1H ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr10:33,609,511...33,610,446
Ensembl chr10:33,604,013...33,612,206 		JBrowse link
G Or6f1 olfactory receptor family 6 subfamily F member 1 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr 1:139,888,779...139,889,705
Ensembl chr 1:139,887,387...139,902,727 		JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED		 CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30619256 NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930 		JBrowse link
G Slc6a5 solute carrier family 6 member 5 ISO Hyperekplexia (Startle disease) OMIA PMID:6524730 PMID:21420493 PMID:30847549 PMID:33769611 NCBI chr 1:99,645,389...99,697,016
Ensembl chr 1:99,645,389...99,697,010 		JBrowse link
G Trim58 tripartite motif-containing 58 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr10:43,022,933...43,038,984
Ensembl chr10:43,022,996...43,034,476 		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 Il1f10 interleukin 1 family member 10 ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:26100510 PMID:28492532 NCBI chr 3:7,072,511...7,075,439
Ensembl chr 3:7,072,511...7,075,439 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis OMIM
ClinVar		 PMID:9536098 PMID:12837270 PMID:16519819 PMID:17576681 PMID:19280228 More... NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il36rn interleukin 36 receptor antagonist ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:26100510 PMID:28492532 NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
Familial Autoinflammatory Syndrome, with or without Immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY OMIM
ClinVar		 PMID:25741868 PMID:32499645 PMID:32853638 PMID:33087723 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383 		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 More... NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934 		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 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:25741868 NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930 		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: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1 OMIM
ClinVar		 PMID:49161 PMID:447320 PMID:5173311 PMID:11687797 PMID:11992256 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
familial cold autoinflammatory syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myadm myeloid-associated differentiation marker ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr 1:65,864,180...65,874,701
Ensembl chr 1:65,864,173...65,874,035 		JBrowse link
G Nlrp12 NLR family, pyrin domain containing 12 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 More... NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934 		JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384 		JBrowse link
familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr19:45,149,250...45,186,102
Ensembl chr19:45,149,265...45,186,101 		JBrowse link
G Cmip c-Maf-inducing protein ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr19:45,304,597...45,510,653
Ensembl chr19:45,304,031...45,508,709 		JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr19:45,207,864...45,258,831
Ensembl chr19:45,207,184...45,254,107 		JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792 		JBrowse link
G Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr19:45,049,713...45,136,503
Ensembl chr19:45,049,719...45,135,532 		JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22236196 PMID:24033266 PMID:25741868 More... NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930 		JBrowse link
familial cold autoinflammatory syndrome 4 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: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432 		JBrowse link
G Memo1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,144,525...21,234,363
Ensembl chr 6:21,125,639...21,234,561 		JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25217959 More... NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248 		JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
familial Mediterranean fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745 		JBrowse link
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 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Ace angiotensin I converting enzyme susceptibility ISO DNA:insertion/deletion:intron 16: RGD PMID:24680475 RGD:40400709 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:11,138,966...11,262,067
Ensembl chr10:11,139,446...11,262,066 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:20518740 RGD:5686880 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,346,541...10,356,779
Ensembl chr10:10,346,536...10,356,750 		JBrowse link
G Amdhd2 amidohydrolase domain containing 2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,187,579...13,196,148
Ensembl chr10:13,187,578...13,196,095 		JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806 		JBrowse link
G Antkmt adenine nucleotide translocase lysine methyltransferase ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,812,274...14,814,798
Ensembl chr10:14,812,269...14,814,193 		JBrowse link
G Arhgdig Rho GDP dissociation inhibitor gamma ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:15,219,049...15,221,257
Ensembl chr10:15,219,049...15,221,213 		JBrowse link
G Atp6v0c ATPase H+ transporting V0 subunit C ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,196,204...13,202,580
Ensembl chr10:13,196,204...13,201,500 		JBrowse link
G Axin1 axin 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:15,163,684...15,215,615
Ensembl chr10:15,163,684...15,215,615 		JBrowse link
G Baiap3 BAI1-associated protein 3 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,260,269...14,273,019
Ensembl chr10:14,260,269...14,273,019 		JBrowse link
G Bicdl2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,691,610...12,700,049
Ensembl chr10:12,691,610...12,700,049 		JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259 		JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376 		JBrowse link
G Capn15 calpain 15 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,972,807...14,999,411
Ensembl chr10:14,972,800...14,999,508 		JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377 		JBrowse link
G Cat catalase disease_progression ISO RGD PMID:22135646 RGD:9480233 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccdc154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,177,271...14,187,378
Ensembl chr10:14,177,278...14,187,253 		JBrowse link
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,808,355...14,812,284
Ensembl chr10:14,807,710...14,812,282 		JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101 		JBrowse link
G Cdip1 cell death-inducing p53 target 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,773,538...10,796,979
Ensembl chr10:10,774,705...10,796,980 		JBrowse link
G Chtf18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,743,006...14,751,044
Ensembl chr10:14,742,621...14,751,050 		JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,795,888...14,804,953
Ensembl chr10:14,795,961...14,804,950 		JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130 		JBrowse link
G Cldn6 claudin 6 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,710,302...12,713,987
Ensembl chr10:12,709,960...12,715,973 		JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,714,137...12,715,568 JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711 		JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001 		JBrowse link
G Cramp1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,983,781...14,032,409
Ensembl chr10:13,983,866...14,032,392 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 sexual_dimorphism ISO DNA:SNPs: :15713T>C,15615T>C (human) RGD PMID:23408444 RGD:39456097 NCBI chr12:9,207,986...9,230,038
Ensembl chr12:9,015,383...9,285,008 		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 chr12:16,397,998...16,433,833
Ensembl chr12:16,397,998...16,433,833 		JBrowse link
G Decr2 2,4-dienoyl-CoA reductase 2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:15,104,907...15,113,281
Ensembl chr10:15,002,926...15,118,479 		JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,600,747...10,614,891
Ensembl chr10:10,600,734...10,614,891 		JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,855,510...10,880,175
Ensembl chr10:10,854,732...10,880,161 		JBrowse link
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869 		JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974 		JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,456,715...13,470,061
Ensembl chr10:13,456,563...13,470,061 		JBrowse link
G Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,336,933...10,349,463
Ensembl chr10:10,336,974...10,347,039 		JBrowse link
G Elob elongin B ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,848,830...12,853,897
Ensembl chr10:12,848,827...12,853,635 		JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968 		JBrowse link
G F2 coagulation factor II ISO protein:increased expression:blood plasma (human) RGD PMID:16721492 RGD:40818434 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012 		JBrowse link
G Fam234a family with sequence similarity 234, member A ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:15,232,267...15,263,529
Ensembl chr10:15,232,278...15,263,488 		JBrowse link
G Fbxl16 F-box and leucine-rich repeat protein 16 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,829,453...14,841,739
Ensembl chr10:14,829,449...14,840,986 		JBrowse link
G Flywch1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,774,644...12,794,373
Ensembl chr10:12,774,653...12,794,267 		JBrowse link
G Flywch2 FLYWCH family member 2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,798,757...12,807,082
Ensembl chr10:12,798,762...12,806,439 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578 		JBrowse link
G Glyr1 glyoxylate reductase 1 homolog ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,532,036...10,567,639
Ensembl chr10:10,532,154...10,567,637 		JBrowse link
G Gng13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,741,179...14,743,083
Ensembl chr10:14,741,239...14,743,083 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504 		JBrowse link
G Haghl hydroxyacylglutathione hydrolase-like ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,804,957...14,809,495
Ensembl chr10:14,804,997...14,807,665 		JBrowse link
G Has2 hyaluronan synthase 2 ISO Periodic Fever Syndrome OMIA PMID:1606750 PMID:20080661 PMID:20178474 PMID:21437276 PMID:21718367 More... NCBI chr 7:88,113,326...88,139,337
Ensembl chr 7:88,113,326...88,128,933 		JBrowse link
G Hcfc1r1 host cell factor C1 regulator 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,705,139...12,706,852
Ensembl chr10:12,705,077...12,706,850 		JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148 		JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433 		JBrowse link
G Igf1 insulin-like growth factor 1 disease_progression ISO RGD PMID:21428190 RGD:5508806 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:16273770 RGD:8655877 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:22384525 RGD:6482659 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20518740 RGD:5686880 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,848,965...14,851,881
Ensembl chr10:14,848,980...14,851,879 		JBrowse link
G Jpt2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,963,135...13,983,212
Ensembl chr10:13,963,137...13,983,170 		JBrowse link
G Kctd5 potassium channel tetramerization domain containing 5 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,079,216...13,105,197
Ensembl chr10:13,079,214...13,105,209 		JBrowse link
G Kremen2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,763,345...12,767,854
Ensembl chr10:12,763,397...12,767,854 		JBrowse link
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,597,726...14,684,071
Ensembl chr10:14,597,594...14,684,119 		JBrowse link
G LOC100361104 CG10869-like ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,707,529...10,750,893 JBrowse link
G Luc7l LUC7-like ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:15,273,340...15,307,131
Ensembl chr10:15,273,348...15,303,112 		JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,918,417...13,958,335
Ensembl chr10:13,918,400...13,958,273 		JBrowse link
G Mcrip2 MAPK regulated co-repressor interacting protein 2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,883,813...14,888,784
Ensembl chr10:14,883,813...14,894,021 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO DNA:mutations:exons
ClinVar Annotator: match by term: Familial Mediterranean fever
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons:p. M694V,V726A,E148Q,M680I (human);		 ClinVar
CTD
OMIM
RGD		 PMID:1977178 PMID:2479171 PMID:2703059 PMID:4015155 PMID:5340644 More... RGD:5129184, RGD:7349344, RGD:7349343 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046 		JBrowse link
G Metrn meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,816,684...14,818,702
Ensembl chr10:14,816,572...14,818,701 		JBrowse link
G Mettl26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,894,574...14,908,067
Ensembl chr10:14,894,581...14,905,851 		JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315 		JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128 		JBrowse link
G Mmp25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,661,297...12,676,119
Ensembl chr10:12,661,208...12,675,871 		JBrowse link
G Mrpl28 mitochondrial ribosomal protein L28 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:15,148,670...15,151,581
Ensembl chr10:15,148,681...15,151,581 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406 		JBrowse link
G Msln mesothelin ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643 		JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,764,883...13,770,609
Ensembl chr10:13,764,883...13,770,609 		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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Naa60 N(alpha)-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:11,622,554...11,653,078
Ensembl chr10:11,587,916...11,642,755 		JBrowse link
G Nagpa N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,380,262...10,388,609
Ensembl chr10:10,380,264...10,388,592 		JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,749,273...13,751,434
Ensembl chr10:13,749,275...13,751,442 		JBrowse link
G Nherf2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,662,461...13,672,975
Ensembl chr10:13,662,461...13,673,049 		JBrowse link
G Nhlrc4 NHL repeat containing 4 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532
G Nlrc3 NLR family, CARD domain containing 3 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:11,551,378...11,585,027
Ensembl chr10:11,551,356...11,584,398 		JBrowse link
G Nlrp12 NLR family, pyrin domain containing 12 ISO ClinVar Annotator: match by term: Periodic fever syndrome ClinVar PMID:28492532 NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934 		JBrowse link
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,917,309...13,918,415
Ensembl chr10:13,917,403...13,918,359 		JBrowse link
G Nme4 NME/NM23 nucleoside diphosphate kinase 4 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:15,114,624...15,118,479
Ensembl chr10:15,002,926...15,118,479 		JBrowse link
G Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,841,693...10,850,199
Ensembl chr10:10,841,799...10,850,192 		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 chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,721,473...13,726,061
Ensembl chr10:13,721,473...13,726,061 		JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,680,275...13,681,618
Ensembl chr10:13,680,321...13,681,586 		JBrowse link
G Nthl1 nth-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957 		JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,236,905...13,240,001
Ensembl chr10:13,236,905...13,240,001 		JBrowse link
G Nubp2 NUBP iron-sulfur cluster assembly factor 2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,903,224...13,906,928
Ensembl chr10:13,903,224...13,906,969 		JBrowse link
G Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,636,174...10,638,090
Ensembl chr10:10,636,174...10,688,370 		JBrowse link
G Or1f34 olfactory receptor family 1 subfamily F member 34 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,333,860...12,334,801
Ensembl chr10:12,333,860...12,334,801 		JBrowse link
G Or2c1 olfactory receptor family 2 subfamily C member 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:11,682,890...11,683,828
Ensembl chr10:11,681,001...11,692,105 		JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649 		JBrowse link
G Paqr4 progestin and adipoQ receptor family member 4 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,758,970...12,762,649
Ensembl chr10:12,758,972...12,762,584 		JBrowse link
G Pdia2 protein disulfide isomerase family A, member 2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:15,215,824...15,218,937
Ensembl chr10:15,215,824...15,220,931 		JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase-1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,105,435...13,182,664
Ensembl chr10:13,105,498...13,174,623 		JBrowse link
G Pgap6 post-GPI attachment to proteins 6 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:15,138,918...15,151,581
Ensembl chr10:15,138,959...15,148,431 		JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858 		JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Periodic disease ClinVar PMID:15805161 PMID:16876319 PMID:21228398 PMID:25326637 PMID:26673778 More... NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,748,221...12,758,995
Ensembl chr10:12,748,237...12,758,995 		JBrowse link
G Pomc proopiomelanocortin ISO protein: decreassed expression: plasma: ACTH RGD PMID:21428190 RGD:5508806 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Ppl periplakin ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,450,919...10,496,575
Ensembl chr10:10,450,919...10,496,575 		JBrowse link
G Prr35 proline rich 35 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,961,957...14,966,818
Ensembl chr10:14,962,162...14,964,152 		JBrowse link
G Prss21 serine protease 21 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,899,820...12,905,612
Ensembl chr10:12,900,535...12,905,618 		JBrowse link
G Prss22 serine protease 22 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,029,153...13,033,863
Ensembl chr10:13,029,153...13,033,863 		JBrowse link
G Prss27 serine protease 27 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,069,959...13,077,322
Ensembl chr10:13,069,959...13,077,322 		JBrowse link
G Prss33 serine protease 33 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,858,941...12,861,281
Ensembl chr10:12,858,941...12,861,281 		JBrowse link
G Prss41 serine protease 41 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,865,872...12,873,552
Ensembl chr10:12,865,872...12,873,552 		JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,140,028...14,146,163
Ensembl chr10:14,140,304...14,144,846 		JBrowse link
G Rab11fip3 RAB11 family interacting protein 3 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:15,002,650...15,086,382
Ensembl chr10:15,002,926...15,118,479 		JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,553,395...13,558,063
Ensembl chr10:13,553,395...13,558,030 		JBrowse link
G Rab40c Rab40c, member RAS oncogene family ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,900,926...14,936,165
Ensembl chr10:14,900,929...14,936,557 		JBrowse link
G RGD1561796 RGD1561796 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:11,618,867...11,632,151
Ensembl chr10:11,618,348...11,629,910 		JBrowse link
G RGD1565166 similar to MGC45438 protein ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,361,909...10,371,046
Ensembl chr10:10,361,948...10,371,046 		JBrowse link
G Rgs11 regulator of G-protein signaling 11 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:15,222,803...15,231,060
Ensembl chr10:15,222,803...15,231,060 		JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,854,514...14,858,848
Ensembl chr10:14,854,514...14,857,430 		JBrowse link
G Rhot2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,858,954...14,864,751
Ensembl chr10:14,858,956...14,864,751 		JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,742,682...13,747,192
Ensembl chr10:13,742,682...13,745,000 		JBrowse link
G Rnps1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,445,516...13,455,858
Ensembl chr10:13,445,653...13,455,858 		JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,567,834...10,572,453
Ensembl chr10:10,567,834...10,572,452 		JBrowse link
G Rpl3l ribosomal protein L3-like ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,753,914...13,764,458
Ensembl chr10:13,753,886...13,764,457 		JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,747,316...13,749,165
Ensembl chr10:13,747,301...13,749,163 		JBrowse link
G Rpusd1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,751,310...14,755,213
Ensembl chr10:14,751,384...14,755,207 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Familial Periodic Fever ClinVar PMID:25741868 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Sec14l5 SEC14-like lipid binding 5 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,394,963...10,436,076
Ensembl chr10:10,396,878...10,435,917 		JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,580,900...10,590,582
Ensembl chr10:10,581,008...10,590,581 		JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:22736074 RGD:13207415 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:11,526,563...11,549,291
Ensembl chr10:11,528,424...11,549,295 		JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,572,146...10,574,339 JBrowse link
G Sox8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,584,829...14,589,818
Ensembl chr10:14,584,829...14,589,818 		JBrowse link
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,907,175...13,912,841
Ensembl chr10:13,907,253...13,912,841 		JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:11,033,976...11,078,103
Ensembl chr10:11,034,035...11,078,101 		JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,815,471...12,848,750
Ensembl chr10:12,815,471...12,848,751 		JBrowse link
G Sstr5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,506,868...14,512,946
Ensembl chr10:14,506,868...14,512,946 		JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,850,765...14,853,046
Ensembl chr10:14,850,765...14,853,046 		JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,710,553...13,715,312
Ensembl chr10:13,704,998...13,715,669 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
G Tbl3 transducin (beta)-like 3 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,726,127...13,731,340
Ensembl chr10:13,726,129...13,731,372 		JBrowse link
G Tedc2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,246,032...13,251,196
Ensembl chr10:13,246,037...13,251,124 		JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,120,491...14,135,729
Ensembl chr10:14,120,818...14,135,698 		JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:11,001,338...11,019,386
Ensembl chr10:11,002,911...11,019,386 		JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:blood RGD PMID:17067436 RGD:5685013 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Thoc6 THO complex subunit 6 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:19445990 RGD:7794686 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tmem204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,076,518...14,104,849
Ensembl chr10:14,076,519...14,101,920 		JBrowse link
G Tnfrsf12a TNF receptor superfamily member 12A ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,707,077...12,709,071
Ensembl chr10:12,689,890...12,709,045 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Familial Periodic Fever ClinVar PMID:25741868 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tpsab1 tryptase alpha/beta 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,360,396...14,362,811
Ensembl chr10:14,360,396...14,362,811 		JBrowse link
G Tpsb2 tryptase beta 2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,381,779...14,383,571
Ensembl chr10:14,382,013...14,383,569 		JBrowse link
G Tpsg1 tryptase gamma 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,386,352...14,390,258
Ensembl chr10:14,386,352...14,390,258 		JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Tsr3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,257,150...14,259,712
Ensembl chr10:14,257,171...14,259,561 		JBrowse link
G Ubald1 UBA-like domain containing 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,695,754...10,700,519
Ensembl chr10:10,695,717...10,700,518 		JBrowse link
G Ube2i ubiquitin-conjugating enzyme E2I ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,277,749...14,294,681
Ensembl chr10:69,701,618...69,702,443
Ensembl chr10:69,701,618...69,702,443 		JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,496,576...10,532,010
Ensembl chr10:10,496,576...10,532,010 		JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,206,125...14,252,226
Ensembl chr10:14,206,189...14,252,225 		JBrowse link
G Uqcc4 ubiquinol-cytochrome c reductase complex assembly factor 4 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,202,217...14,203,519
Ensembl chr10:14,202,243...14,204,029 		JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:10,917,750...10,928,259
Ensembl chr10:10,917,605...10,928,357 		JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,844,089...14,848,871
Ensembl chr10:14,843,728...14,848,864 		JBrowse link
G Wdr90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,864,672...14,881,285
Ensembl chr10:14,864,670...14,881,292 		JBrowse link
G Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:14,896,442...14,898,770
Ensembl chr10:14,896,378...14,899,863 		JBrowse link
G Zfp13 zinc finger protein 13 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,615,470...12,623,615
Ensembl chr10:12,615,190...12,623,615 		JBrowse link
G Zfp174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:11,666,580...11,676,328
Ensembl chr10:11,669,913...11,676,312 		JBrowse link
G Zfp213 zinc finger protein 213 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,592,368...12,599,296
Ensembl chr10:12,592,368...12,599,281 		JBrowse link
G Zfp263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:11,764,424...11,774,330
Ensembl chr10:11,764,427...11,771,235 		JBrowse link
G Zfp597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:11,653,169...11,658,843
Ensembl chr10:11,653,127...11,660,675 		JBrowse link
G Zfp598 zinc finger protein 598 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:13,694,224...13,706,235
Ensembl chr10:13,694,286...13,706,233 		JBrowse link
G Zg16b zymogen granule protein 16B ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,970,888...12,984,170
Ensembl chr10:12,979,020...12,983,572 		JBrowse link
G Zscan10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Familial Mediterranean fever ClinVar PMID:28492532 NCBI chr10:12,636,302...12,646,275
Ensembl chr10:12,636,302...12,646,275 		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 immunity regulator, pyrin ISO ClinVar Annotator: match by term: Familial Mediterranean fever, autosomal dominant OMIM
ClinVar		 PMID:2703059 PMID:4015155 PMID:5340644 PMID:5458961 PMID:7677151 More... NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Immunodeficiency 94 with autoinflammation and dysmorphic facies ClinVar
OMIM		 PMID:19020503 PMID:33517393 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936 		JBrowse link
Immunodeficiency 97 with Autoinflammation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 97 with autoinflammation OMIM
ClinVar		 PMID:31554793 PMID:33054089 NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043 		JBrowse link
Immunodeficiency 98 with Autoinflammation, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Faslg Fas ligand ISO ClinVar Annotator: match by term: Immunodeficiency 98 with autoinflammation, X-linked ClinVar PMID:28492532 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Tlr8 toll-like receptor 8 ISO ClinVar Annotator: match by term: Immunodeficiency 98 with autoinflammation, X-linked OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33512449 PMID:34981838 NCBI chr  X:27,091,780...27,116,092
Ensembl chr  X:27,091,778...27,116,549 		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 6:89,483,741...89,503,775
Ensembl chr 6:89,483,727...89,504,965 		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 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746 		JBrowse link
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 OMIM
ClinVar		 PMID:8495043 PMID:20159315 PMID:20534754 PMID:21129723 PMID:21881205 More... NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407 		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 chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Mevalonic aciduria ClinVar PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:42,159,109...42,172,496
Ensembl chr12:42,159,089...42,172,490 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Mevalonic aciduria | ClinVar Annotator: match by term: Periodic fever Dutch type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1377680 PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 More... NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:7780142 RGD:9585642 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		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 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		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: OTULIPENIA OMIM
ClinVar		 PMID:25741868 PMID:27523608 PMID:27559085 PMID:28492532 PMID:30796585 More... NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422 		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 term: Menstrual cycle-dependent periodic fever OMIM
ClinVar		 PMID:21990073 NCBI chr 2:36,694,174...36,695,442
Ensembl chr 2:36,694,174...36,695,442 		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 chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177 		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 OMIM
ClinVar		 PMID:12022327 PMID:25741868 PMID:26524591 PMID:28492532 PMID:29805043 NCBI chr12:7,162,098...7,174,737
Ensembl chr12:7,160,714...7,174,715 		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 OMIM
ClinVar		 PMID:21953331 PMID:25741868 PMID:26524591 PMID:28492532 NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:26524591 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512 		JBrowse link
Proteasome-Associated Autoinflammatory Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmg2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 4 OMIM
ClinVar		 PMID:16199547 PMID:28492532 PMID:30664889 NCBI chr18:61,208,669...61,227,671
Ensembl chr18:61,208,678...61,259,816 		JBrowse link
Proteasome-Associated Autoinflammatory Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb10 proteasome 20S subunit beta 10 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 5 OMIM
ClinVar		 PMID:31783057 NCBI chr19:33,830,958...33,833,442
Ensembl chr19:33,827,229...33,833,626 		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 with onset in infancy OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25029335 More... NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335 		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 OMIM
ClinVar		 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 PMID:11910337 More... NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    Pathological Conditions, Signs and Symptoms 12646
      Pathologic Processes 7842
        Inflammation 2858
          Hereditary Autoinflammatory Diseases 393
            AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED 1
            AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME 1
            Autoinflammation with Arthritis and Dyskeratosis 1
            Autoinflammation with Episodic Fever and Lymphadenopathy 1
            Autoinflammation with Infantile Enterocolitis 7
            Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated 1
            Autoinflammation, Immunde Dysregulation, and Eosinophilia 2
            Behcet's disease 73
            Chediak-Higashi syndrome + 50
            Cryopyrin-Associated Periodic Syndromes + 31
            Deficiency of Interleukin-1 Receptor Antagonist 4
            Familial Autoinflammatory Syndrome, with or without Immunodeficiency 1
            Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies 1
            Immunodeficiency 97 with Autoinflammation 1
            Immunodeficiency 98 with Autoinflammation, X-Linked 2
            PFAPA Syndrome 1
            Periodic Fever, Menstrual Cycle-Dependent 1
            Proteasome-Associated Autoinflammatory Syndromes + 8
            STING-associated vasculopathy with onset in infancy 1
            YAO SYNDROME 1
            autosomal dominant familial periodic fever 55
            familial Mediterranean fever + 188
            mevalonic aciduria 5
            otulipenia 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        Neurologic Manifestations 9338
          sensory system disease 6575
            skin disease 3880
              Genetic Skin Diseases 1583
                Hereditary Autoinflammatory Diseases 393
                  AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED 1
                  AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME 1
                  Autoinflammation with Arthritis and Dyskeratosis 1
                  Autoinflammation with Episodic Fever and Lymphadenopathy 1
                  Autoinflammation with Infantile Enterocolitis 7
                  Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated 1
                  Autoinflammation, Immunde Dysregulation, and Eosinophilia 2
                  Behcet's disease 73
                  Chediak-Higashi syndrome + 50
                  Cryopyrin-Associated Periodic Syndromes + 31
                  Deficiency of Interleukin-1 Receptor Antagonist 4
                  Familial Autoinflammatory Syndrome, with or without Immunodeficiency 1
                  Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies 1
                  Immunodeficiency 97 with Autoinflammation 1
                  Immunodeficiency 98 with Autoinflammation, X-Linked 2
                  PFAPA Syndrome 1
                  Periodic Fever, Menstrual Cycle-Dependent 1
                  Proteasome-Associated Autoinflammatory Syndromes + 8
                  STING-associated vasculopathy with onset in infancy 1
                  YAO SYNDROME 1
                  autosomal dominant familial periodic fever 55
                  familial Mediterranean fever + 188
                  mevalonic aciduria 5
                  otulipenia 1
paths to the root