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
Accession: DOID:9006364
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 .
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
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
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 PMID:28492532 More...
NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180
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
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
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
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 PMID:25217960 PMID:25385754 PMID:25741868 PMID:27974463 PMID:28166811 PMID:28492532 PMID:29778503 PMID:30319625 PMID:30783801 PMID:30864118 More...
NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
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
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
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
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
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 PMID:34298581 More...
NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
G
Col9a3
collagen type IX alpha 3 chain
ISO
Oculoskeletal dysplasia 1
OMIA
PMID:830631 PMID:1525714 PMID:3204050 PMID:20686772 PMID:22065099 PMID:31415586 PMID:31595625 PMID:31746146 More...
NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
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 PMID:28492532 PMID:32750333 PMID:35046931 More...
NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:10199409 PMID:10902757 PMID:11175303 PMID:11443543 PMID:11700162 PMID:11817598 PMID:12209523 PMID:12352631 PMID:12520003 PMID:12905494 PMID:13130484 PMID:14610673 PMID:15280569 PMID:15492850 PMID:16508982 PMID:16635178 PMID:16684962 PMID:17576681 PMID:18180277 PMID:18512793 PMID:19917181 PMID:21029567 PMID:21113948 PMID:22311714 PMID:22801493 PMID:22918594 PMID:23322460 PMID:23745996 PMID:23965844 PMID:24033266 PMID:24064022 PMID:24295430 PMID:24393624 PMID:25326637 PMID:25387410 PMID:25640679 PMID:25741868 PMID:25936627 PMID:26598380 PMID:27332769 PMID:28166811 PMID:28492532 PMID:32047491 PMID:32380704 PMID:32831641 More...
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:29294320 PMID:21506890 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Tnf
tumor necrosis factor
no_association
ISO
DNA:SNP:promoter:-308G>A (human) DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human) associated with Uveitis;protein:increased expression:aqueous humor: protein:increased expression:serum
RGD
PMID:20601837 PMID:12770792 PMID:15875188 PMID:12632436 PMID:21334264 PMID:14600787 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
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
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
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
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
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
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
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
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
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
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
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 PMID:25734815 PMID:25741868 PMID:25989471 PMID:26203641 PMID:26358359 PMID:28166811 PMID:28492532 PMID:28887889 PMID:30387497 More...
NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905
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
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
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
G
Elane
elastase, neutrophil expressed
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar
PMID:10581030 PMID:11675333 PMID:19036076 PMID:23463630 PMID:25703294 PMID:25741868 PMID:27854218 PMID:28492532 More...
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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
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
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
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
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
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 PMID:22032624 PMID:24033266 PMID:24863340 PMID:25501066 PMID:25741868 PMID:28236224 PMID:28492532 More...
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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 PMID:23303454 PMID:23428889 PMID:23648549 PMID:23698098 PMID:23792462 PMID:23863864 PMID:24033266 PMID:24979538 PMID:25212972 PMID:25427108 PMID:25458002 PMID:25468355 PMID:25741868 PMID:25989471 PMID:26147717 PMID:26589685 PMID:26676204 PMID:27220475 PMID:27388993 PMID:27542682 PMID:28063630 PMID:28492532 PMID:28887889 PMID:29030861 PMID:30036598 PMID:30609409 More...
NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016
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
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
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
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 PMID:18409191 PMID:19717560 PMID:20032092 PMID:20301735 PMID:20645851 PMID:24033266 PMID:25741868 PMID:26386126 PMID:27860302 PMID:28492532 PMID:33670882 More...
NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
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 PMID:9536098 PMID:10482950 PMID:10648412 PMID:11857544 PMID:15896657 PMID:16199547 PMID:17554367 PMID:17576681 PMID:18485661 PMID:20301751 PMID:21878672 PMID:23436631 PMID:24033266 PMID:24072239 PMID:24112114 PMID:25047945 PMID:25640679 PMID:25741868 PMID:26193622 PMID:26597256 PMID:26915675 PMID:27781387 PMID:27872624 PMID:28145517 PMID:28193763 PMID:28458669 PMID:28492532 PMID:30383631 PMID:30815890 PMID:30899265 PMID:31906877 PMID:33217554 PMID:10384041 More...
RGD:633300
NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
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 PMID:7677151 PMID:9288094 PMID:9288758 PMID:9527614 PMID:9668175 PMID:9781020 PMID:10024914 PMID:10090880 PMID:10234504 PMID:10364520 PMID:10447272 PMID:10611954 PMID:10612841 PMID:10737992 PMID:10737995 PMID:10787449 PMID:10787450 PMID:10842288 PMID:10852276 PMID:10854105 PMID:10854115 PMID:10879615 PMID:10905662 PMID:10980540 PMID:11017802 PMID:11175300 PMID:11464238 PMID:11464248 PMID:11468188 PMID:11470495 PMID:11588211 PMID:11903360 PMID:11938447 PMID:11977178 PMID:12064853 PMID:12105243 PMID:12124996 PMID:12180071 PMID:12401847 PMID:12687559 PMID:12908875 PMID:12929299 PMID:12955725 PMID:14578331 PMID:14578333 PMID:14612366 PMID:14679589 PMID:14727057 PMID:15018633 PMID:15020340 PMID:15024140 PMID:15024744 PMID:15168590 PMID:15458961 PMID:15475974 PMID:15502081 PMID:15643295 PMID:15717684 PMID:15720244 PMID:15745878 PMID:15805719 PMID:15868622 PMID:15942916 PMID:15951859 PMID:16100353 PMID:16179998 PMID:16255051 PMID:16378925 PMID:16403826 PMID:16439335 PMID:16439437 PMID:16498449 PMID:16523438 PMID:16614989 PMID:16627024 PMID:16730661 PMID:16785446 PMID:16802374 PMID:16889173 PMID:17276496 PMID:17329916 PMID:17331080 PMID:17489852 PMID:17566872 PMID:17665427 PMID:18097735 PMID:18307385 PMID:18328141 PMID:18353061 PMID:18386244 PMID:18409191 PMID:18496034 PMID:18609258 PMID:18662100 PMID:18691160 PMID:19026119 PMID:19151977 PMID:19253030 PMID:19449169 PMID:19466506 PMID:19531756 PMID:19762364 PMID:19777236 PMID:19784369 PMID:19786432 PMID:19790133 PMID:19820229 PMID:19845843 PMID:19863562 PMID:19877056 PMID:19929404 PMID:19934082 PMID:19934083 PMID:19934105 PMID:19967574 PMID:20008920 PMID:20008924 PMID:20041150 PMID:20044784 PMID:20051664 PMID:20165923 PMID:20177433 PMID:20301405 PMID:20437121 PMID:20483145 PMID:20485448 PMID:20525738 PMID:20534143 PMID:20602240 PMID:20645115 PMID:20669279 PMID:20688806 PMID:20721559 PMID:20828792 PMID:20890251 PMID:20981092 PMID:21153919 PMID:21228398 PMID:21246368 PMID:21290976 PMID:21358337 PMID:21413889 PMID:21520333 PMID:21562927 PMID:21598804 PMID:21598806 PMID:21600797 PMID:21623663 PMID:21727933 PMID:21978701 PMID:21995303 PMID:22019805 PMID:22037353 PMID:22057232 PMID:22190688 PMID:22207183 PMID:22261745 PMID:22337722 PMID:22451026 PMID:22467954 PMID:22505824 PMID:22532615 PMID:22566169 PMID:22580583 PMID:22614345 PMID:22661645 PMID:22722202 PMID:22810696 PMID:22878273 PMID:22903357 PMID:22906030 PMID:22934972 PMID:22975760 PMID:22995991 PMID:23006543 PMID:23010357 PMID:23031807 PMID:23038988 PMID:23070486 PMID:23137073 PMID:23155201 PMID:23164758 PMID:23166428 PMID:23206577 PMID:23217869 PMID:23291246 PMID:23302539 PMID:23325590 PMID:23334425 PMID:23400211 PMID:23437051 PMID:23463692 PMID:23505238 PMID:23505242 PMID:23524442 PMID:23588594 PMID:23592051 PMID:23716950 PMID:23800337 PMID:23844200 PMID:23847694 PMID:23867542 PMID:23907647 PMID:23973724 PMID:23981758 PMID:24033266 PMID:24071932 PMID:24082139 PMID:24117178 PMID:24123366 PMID:24233262 PMID:24251727 PMID:24261781 PMID:24263150 PMID:24289199 PMID:24318677 PMID:24369413 PMID:24381109 PMID:24383976 PMID:24424166 PMID:24433404 PMID:24469716 PMID:24702757 PMID:24797171 PMID:24862656 PMID:24929125 PMID:24965843 PMID:25006247 PMID:25073670 PMID:25088882 PMID:25203624 PMID:25261100 PMID:25286988 PMID:25393764 PMID:25615955 PMID:25626331 PMID:25648235 PMID:25671271 PMID:25703702 PMID:25708585 PMID:25741868 PMID:25760918 PMID:25793047 PMID:25821352 PMID:25866490 PMID:25959027 PMID:25974247 PMID:26003477 PMID:26027984 PMID:26028444 PMID:26078663 PMID:26131005 PMID:26215181 PMID:26247045 PMID:26299986 PMID:26351556 PMID:26360812 PMID:26413094 PMID:26467025 PMID:26510601 PMID:26537665 PMID:26554556 PMID:26585190 PMID:26620106 PMID:26690517 PMID:26722138 PMID:26759267 PMID:26843738 PMID:26933204 PMID:27030597 PMID:27100444 PMID:27333294 PMID:27364639 PMID:27457448 PMID:27473114 PMID:27513391 PMID:27535533 PMID:27621632 PMID:27659338 PMID:27733942 PMID:27838405 PMID:27884173 PMID:27980538 PMID:27994174 PMID:28001092 PMID:28211254 PMID:28302131 PMID:28386255 PMID:28421071 PMID:28483595 PMID:28492532 PMID:28573371 PMID:28590056 PMID:28597968 PMID:28750028 PMID:28863210 PMID:28927886 PMID:28943464 PMID:29047407 PMID:29080837 PMID:29148036 PMID:29159471 PMID:29178647 PMID:29260407 PMID:29314707 PMID:29363386 PMID:29379228 PMID:29526930 PMID:29543225 PMID:29599418 PMID:29735907 PMID:29808155 PMID:29927949 PMID:30171907 PMID:30235678 PMID:30407166 PMID:30409984 PMID:30476289 PMID:30487145 PMID:30546872 PMID:30783801 PMID:30915208 PMID:30996171 PMID:31088470 PMID:31204589 PMID:31264586 PMID:31411330 PMID:31531243 PMID:31620089 PMID:31646357 PMID:31989427 PMID:32082075 PMID:32199921 PMID:32312770 PMID:32401353 PMID:32461654 PMID:32741030 PMID:32853466 PMID:32909274 PMID:33223529 PMID:33331265 PMID:33440462 PMID:33497256 PMID:33560333 PMID:33715276 PMID:33726481 PMID:33733382 PMID:33738724 PMID:34426522 PMID:35098403 More...
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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
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
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 PMID:11111075 PMID:11313769 PMID:12444096 PMID:12634869 PMID:15536479 PMID:16255052 PMID:16835861 PMID:17105862 PMID:18414213 PMID:19011501 PMID:21228398 PMID:21425920 PMID:22038276 PMID:22246419 PMID:23006543 PMID:23692791 PMID:23979089 PMID:24033266 PMID:24084495 PMID:24088041 PMID:24177804 PMID:24233262 PMID:24360083 PMID:24411001 PMID:24470648 PMID:24561416 PMID:25708585 PMID:25741868 PMID:25866490 PMID:26116953 PMID:26299986 PMID:26633545 PMID:26977311 PMID:26986117 PMID:27142780 PMID:27213830 PMID:28359055 PMID:28492532 PMID:32822427 PMID:33917151 PMID:35387795 More...
NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882
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
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
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 PMID:21538323 PMID:24033266 PMID:24064030 PMID:25741868 PMID:26386126 PMID:27314497 PMID:27633793 PMID:28166811 PMID:28492532 PMID:29500522 PMID:30788684 PMID:31820221 PMID:32199921 PMID:32441320 More...
NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934
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 PMID:12355493 PMID:12522564 PMID:14630794 PMID:14872505 PMID:15020601 PMID:15593220 PMID:15801036 PMID:16100350 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17393462 PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 PMID:20159265 PMID:20182451 PMID:20472245 PMID:21058222 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:22128899 PMID:22403613 PMID:22524199 PMID:22529966 PMID:22566169 PMID:22843550 PMID:22935299 PMID:23421920 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24431285 PMID:24649046 PMID:24759409 PMID:25038238 PMID:25586466 PMID:25596455 PMID:25639832 PMID:25730877 PMID:25741868 PMID:25821352 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27134254 PMID:27191192 PMID:27819323 PMID:27943240 PMID:27943647 PMID:27994174 PMID:28028683 PMID:28137891 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28692792 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29922587 PMID:29977033 PMID:30214525 PMID:30311386 PMID:30407166 PMID:30808881 PMID:32082075 PMID:32199921 More...
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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 PMID:11910337 PMID:12019468 PMID:12115249 PMID:12512038 PMID:12557156 PMID:12577202 PMID:12626759 PMID:12650796 PMID:12673278 PMID:12704363 PMID:14508222 PMID:14765395 PMID:15002819 PMID:15024686 PMID:15044951 PMID:15190267 PMID:15198989 PMID:15320482 PMID:15571588 PMID:15712650 PMID:15770725 PMID:15967635 PMID:16010583 PMID:16278823 PMID:16416181 PMID:16485124 PMID:16669960 PMID:17301648 PMID:17489054 PMID:17576681 PMID:18240302 PMID:18419343 PMID:18489434 PMID:18507017 PMID:18541930 PMID:18942754 PMID:19103559 PMID:19184348 PMID:19184350 PMID:19185283 PMID:19349988 PMID:19397946 PMID:19467619 PMID:19641059 PMID:19713276 PMID:19748964 PMID:20032092 PMID:20047977 PMID:20230816 PMID:20332463 PMID:20713205 PMID:20959815 PMID:21274544 PMID:21335489 PMID:21460759 PMID:21548950 PMID:21565239 PMID:21745302 PMID:21830272 PMID:21914217 PMID:21951874 PMID:21983784 PMID:21994160 PMID:22275320 PMID:22319155 PMID:22344438 PMID:22440928 PMID:22543157 PMID:22684479 PMID:22939045 PMID:22942351 PMID:23102769 PMID:23128233 PMID:23173613 PMID:23615072 PMID:23633568 PMID:23709157 PMID:24033266 PMID:24047397 PMID:24345423 PMID:24391456 PMID:24583628 PMID:24586700 PMID:24597572 PMID:24803813 PMID:25365249 PMID:25741868 PMID:26042516 PMID:26070941 PMID:26164256 PMID:26167078 PMID:26316104 PMID:26500656 PMID:27306066 PMID:27373512 PMID:28008999 PMID:28166811 PMID:28422189 PMID:28492532 PMID:28658209 PMID:28750667 PMID:28814775 PMID:29178652 PMID:29248579 PMID:29321258 PMID:29446656 PMID:29795570 PMID:29867916 PMID:30166421 PMID:30167848 PMID:30552907 PMID:30553995 PMID:32597225 PMID:32716958 More...
NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
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 PMID:12060139 PMID:12229880 PMID:12599189 PMID:14739222 PMID:14757862 PMID:15077010 PMID:15342365 PMID:15365097 PMID:15459303 PMID:15659737 PMID:15728124 PMID:15755277 PMID:15755897 PMID:16278825 PMID:16374518 PMID:16720836 PMID:16860143 PMID:17164654 PMID:17311987 PMID:17475905 PMID:17477373 PMID:17674359 PMID:17873118 PMID:18496551 PMID:18799942 PMID:18927437 PMID:19487666 PMID:20019066 PMID:20197201 PMID:21234777 PMID:21674762 PMID:21881043 PMID:22437823 PMID:22970278 PMID:23255033 PMID:23287865 PMID:23443029 PMID:23592409 PMID:24033266 PMID:24309606 PMID:24916509 PMID:25047945 PMID:25233452 PMID:25741868 PMID:25776844 PMID:25845254 PMID:25937001 PMID:26184781 PMID:26221353 PMID:26450956 PMID:26684649 PMID:27271812 PMID:27391055 PMID:27535533 PMID:28492532 PMID:29263817 PMID:29357941 PMID:31395954 PMID:31664448 PMID:32150605 PMID:32356861 PMID:32542393 PMID:32638196 PMID:33658321 PMID:33746956 PMID:34938098 More...
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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
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 PMID:31443670 More...
NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
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 PMID:19953648 PMID:24678334 PMID:25071262 PMID:25500851 PMID:25544030 PMID:25741868 PMID:26880764 PMID:27016801 PMID:28353193 PMID:28492532 PMID:29357941 PMID:29522846 PMID:30290665 PMID:32375849 PMID:32542393 PMID:32638196 More...
NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
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
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
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
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
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 PMID:28492532 PMID:31415280 More...
NCBI chr X:121,373,693...121,401,923
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 PMID:28492532 PMID:29795570 PMID:34095032 More...
NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
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
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
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 PMID:21881043 PMID:22451424 PMID:23687090 PMID:24033266 PMID:24194549 PMID:24916509 PMID:25741868 PMID:27577878 PMID:28492532 PMID:29665027 PMID:32256442 PMID:32542393 PMID:34050687 More...
NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
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
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
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 PMID:18512793 PMID:19917181 PMID:21029567 PMID:22311714 PMID:22801493 PMID:23322460 PMID:23745996 PMID:23965844 PMID:24033266 PMID:24393624 PMID:25326637 PMID:25741868 PMID:25936627 PMID:26598380 PMID:28492532 PMID:32380704 PMID:32831641 More...
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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
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 PMID:17993578 PMID:18240215 PMID:18492689 PMID:18759271 PMID:19484379 PMID:19704116 PMID:20823128 PMID:21094958 PMID:21152410 PMID:21248318 PMID:21600143 PMID:21674762 PMID:21755595 PMID:21881043 PMID:23180437 PMID:23840885 PMID:24033266 PMID:24139496 PMID:24459464 PMID:24470399 PMID:24916509 PMID:25502423 PMID:25573973 PMID:25741868 PMID:26342526 PMID:28399723 PMID:28492532 PMID:28748566 PMID:29549174 PMID:32542393 PMID:33746956 More...
NCBI chr10:101,296,755...101,311,513
Ensembl chr10:101,296,776...101,311,687
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 PMID:25741868 PMID:27537055 PMID:28492532 More...
NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700
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 PMID:12355493 PMID:12522564 PMID:14630794 PMID:14872505 PMID:15593220 PMID:15801036 PMID:16081838 PMID:16100350 PMID:16255047 PMID:16449034 PMID:16871551 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17393462 PMID:17509468 PMID:18080732 PMID:18263599 PMID:18311798 PMID:19319132 PMID:19501000 PMID:20159265 PMID:20182451 PMID:20472245 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:22128899 PMID:22193915 PMID:22403613 PMID:22512814 PMID:22524199 PMID:22529966 PMID:22566169 PMID:22661645 PMID:22843550 PMID:22935299 PMID:23015306 PMID:23421920 PMID:23442610 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24431285 PMID:24649046 PMID:24759409 PMID:24773462 PMID:25038238 PMID:25586466 PMID:25596455 PMID:25639832 PMID:25730877 PMID:25732894 PMID:25741868 PMID:25821352 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27134254 PMID:27191192 PMID:27612399 PMID:27819323 PMID:27943240 PMID:27943647 PMID:27994174 PMID:28028683 PMID:28137891 PMID:28166811 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28692792 PMID:28956000 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29922587 PMID:29977033 PMID:30214525 PMID:30407166 PMID:30808881 PMID:31155445 PMID:32082075 PMID:32199921 PMID:33329557 More...
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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
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
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
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
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
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 PMID:12032915 PMID:12355493 PMID:12522564 PMID:12928894 PMID:14630794 PMID:14872505 PMID:15020601 PMID:15231984 PMID:15593220 PMID:15724022 PMID:15801036 PMID:16081838 PMID:16100350 PMID:16255047 PMID:16802372 PMID:16920754 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17393462 PMID:17509468 PMID:17513575 PMID:17576681 PMID:18263599 PMID:18311798 PMID:19319132 PMID:19501000 PMID:20159265 PMID:20182451 PMID:20472245 PMID:21058222 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:22128899 PMID:22193915 PMID:22403613 PMID:22512814 PMID:22524199 PMID:22529966 PMID:22566169 PMID:22661645 PMID:22843550 PMID:22935299 PMID:23015306 PMID:23421920 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24326009 PMID:24431285 PMID:24649046 PMID:24759409 PMID:24773462 PMID:25038238 PMID:25217959 PMID:25584041 PMID:25586466 PMID:25596455 PMID:25619352 PMID:25639832 PMID:25730877 PMID:25732894 PMID:25741868 PMID:25821352 PMID:25866490 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27134254 PMID:27191192 PMID:27612399 PMID:27819323 PMID:27943240 PMID:27943647 PMID:27994174 PMID:28028683 PMID:28079503 PMID:28137891 PMID:28166811 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28692792 PMID:28847925 PMID:28956000 PMID:29047407 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29611406 PMID:29922587 PMID:29977033 PMID:30069026 PMID:30214525 PMID:30273710 PMID:30311386 PMID:30407166 PMID:30808881 PMID:31155445 PMID:32082075 PMID:32199921 PMID:33020839 PMID:33329557 More...
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:19494218 PMID:19494219 PMID:19729864 PMID:20213597 PMID:20842532 PMID:21279638 PMID:21792839 PMID:22032624 PMID:22940634 PMID:24033266 PMID:24863340 PMID:25501066 PMID:25741868 PMID:26100510 PMID:28236224 PMID:28492532 More...
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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
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
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
G
Nlrp12
NLR family, pyrin domain containing 12
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome
ClinVar
PMID:24033266 PMID:24064030 PMID:25741868 PMID:27314497 PMID:27633793 PMID:28492532 More...
NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934
G
Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome
ClinVar
PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 PMID:15593220 PMID:17038455 PMID:17213252 PMID:17393462 PMID:20159265 PMID:22566169 PMID:23421920 PMID:24033266 PMID:24123366 PMID:24135410 PMID:25038238 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26467025 PMID:26531310 PMID:27994174 PMID:28492532 PMID:28692792 PMID:29159471 PMID:29922587 PMID:30407166 PMID:30808881 More...
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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
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 PMID:12032915 PMID:12355493 PMID:12522564 PMID:14630794 PMID:14872505 PMID:15020601 PMID:15231984 PMID:15334500 PMID:15593220 PMID:15724022 PMID:15801036 PMID:16081838 PMID:16100350 PMID:16255047 PMID:16449034 PMID:16646042 PMID:16802372 PMID:16871551 PMID:16920754 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17393462 PMID:17509468 PMID:17513575 PMID:18080732 PMID:18174231 PMID:18263599 PMID:18311798 PMID:19319132 PMID:19501000 PMID:20159265 PMID:20182451 PMID:20472245 PMID:21058222 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:22128899 PMID:22193915 PMID:22403613 PMID:22512814 PMID:22524199 PMID:22529966 PMID:22566169 PMID:22661645 PMID:22843550 PMID:22935299 PMID:23015306 PMID:23421920 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24431285 PMID:24649046 PMID:24759409 PMID:24773462 PMID:25038238 PMID:25586466 PMID:25596455 PMID:25639832 PMID:25730877 PMID:25741868 PMID:25821352 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27134254 PMID:27191192 PMID:27612399 PMID:27819323 PMID:27943240 PMID:27943647 PMID:27994174 PMID:28028683 PMID:28079503 PMID:28137891 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28692792 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29922587 PMID:29977033 PMID:30069026 PMID:30214525 PMID:30311386 PMID:30407166 PMID:30808881 PMID:32082075 PMID:32199921 PMID:33020839 PMID:33329557 More...
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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
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 PMID:21538323 PMID:24033266 PMID:24064030 PMID:25064839 PMID:25640679 PMID:25741868 PMID:26386126 PMID:26508570 PMID:27314497 PMID:27633793 PMID:28166811 PMID:28492532 PMID:29500522 PMID:30788684 PMID:31155445 PMID:31820221 PMID:32199921 PMID:32441320 More...
NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934
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
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
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
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
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
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
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 PMID:28166811 PMID:28492532 PMID:29590070 PMID:30619256 More...
NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
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
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
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 PMID:25217960 PMID:25385754 PMID:25741868 PMID:27974463 PMID:28166811 PMID:28492532 PMID:29778503 PMID:30783801 More...
NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Cldn9
claudin 9
ISO
ClinVar Annotator: match by term: Familial Mediterranean fever
ClinVar
PMID:28492532
NCBI chr10:12,714,137...12,715,568
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Has2
hyaluronan synthase 2
ISO
Periodic Fever Syndrome
OMIA
PMID:1606750 PMID:20080661 PMID:20178474 PMID:21437276 PMID:21718367 PMID:24130694 PMID:25040095 PMID:27107962 PMID:28472921 More...
NCBI chr 7:88,113,326...88,139,337
Ensembl chr 7:88,113,326...88,128,933
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
LOC100361104
CG10869-like
ISO
ClinVar Annotator: match by term: Familial Mediterranean fever
ClinVar
PMID:28492532
NCBI chr10:10,707,529...10,750,893
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
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
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
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 PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 PMID:9336425 PMID:9527614 PMID:9536098 PMID:9668175 PMID:9781020 PMID:10024914 PMID:10090880 PMID:10234504 PMID:10364520 PMID:10447272 PMID:10611954 PMID:10612841 PMID:10737992 PMID:10737995 PMID:10787449 PMID:10787450 PMID:10842288 PMID:10852276 PMID:10854105 PMID:10854115 PMID:10879615 PMID:10905662 PMID:10980540 PMID:11017802 PMID:11139259 PMID:11175300 PMID:11242116 PMID:11464238 PMID:11464248 PMID:11468188 PMID:11470495 PMID:11588211 PMID:11903360 PMID:11938447 PMID:11977178 PMID:12064853 PMID:12105243 PMID:12124996 PMID:12180071 PMID:12401847 PMID:12687559 PMID:12908875 PMID:12929299 PMID:12955725 PMID:14578331 PMID:14578333 PMID:14612366 PMID:14636645 PMID:14679589 PMID:14727057 PMID:14985395 PMID:15018633 PMID:15020340 PMID:15024140 PMID:15024744 PMID:15168590 PMID:15300846 PMID:15458961 PMID:15475974 PMID:15502081 PMID:15643295 PMID:15717684 PMID:15720244 PMID:15745878 PMID:15805719 PMID:15868622 PMID:15942916 PMID:15951859 PMID:16100353 PMID:16179998 PMID:16255051 PMID:16378925 PMID:16403826 PMID:16439335 PMID:16439437 PMID:16498449 PMID:16523438 PMID:16614989 PMID:16627024 PMID:16730661 PMID:16785446 PMID:16802374 PMID:16889173 PMID:17276496 PMID:17329916 PMID:17331080 PMID:17489852 PMID:17566872 PMID:17576681 PMID:17594097 PMID:17665427 PMID:17938136 PMID:18097735 PMID:18307385 PMID:18328141 PMID:18353061 PMID:18386244 PMID:18409191 PMID:18496034 PMID:18609258 PMID:18662100 PMID:18691160 PMID:19026119 PMID:19151977 PMID:19193696 PMID:19253030 PMID:19262573 PMID:19302049 PMID:19449169 PMID:19466506 PMID:19479870 PMID:19531756 PMID:19729025 PMID:19762364 PMID:19777236 PMID:19784369 PMID:19786432 PMID:19790133 PMID:19820229 PMID:19845843 PMID:19863562 PMID:19877056 PMID:19929404 PMID:19934082 PMID:19934083 PMID:19934105 PMID:19967574 PMID:20008920 PMID:20008924 PMID:20041150 PMID:20044784 PMID:20051664 PMID:20165923 PMID:20177433 PMID:20301405 PMID:20437121 PMID:20483145 PMID:20485448 PMID:20525738 PMID:20534143 PMID:20602240 PMID:20645115 PMID:20669279 PMID:20688806 PMID:20721559 PMID:20828792 PMID:20890251 PMID:20981092 PMID:21153919 PMID:21228398 PMID:21246368 PMID:21290976 PMID:21329287 PMID:21358337 PMID:21413889 PMID:21520333 PMID:21562927 PMID:21598804 PMID:21598806 PMID:21600797 PMID:21623663 PMID:21727933 PMID:21978701 PMID:21995303 PMID:22019805 PMID:22037353 PMID:22057232 PMID:22190688 PMID:22207183 PMID:22261745 PMID:22281876 PMID:22337722 PMID:22451026 PMID:22467954 PMID:22505824 PMID:22532615 PMID:22566169 PMID:22580583 PMID:22614345 PMID:22661645 PMID:22722202 PMID:22810696 PMID:22878273 PMID:22903357 PMID:22906030 PMID:22934972 PMID:22975760 PMID:22995991 PMID:23006543 PMID:23010357 PMID:23031807 PMID:23038988 PMID:23070486 PMID:23137073 PMID:23155201 PMID:23164758 PMID:23166428 PMID:23206577 PMID:23217869 PMID:23280696 PMID:23291246 PMID:23302539 PMID:23325590 PMID:23334425 PMID:23400211 PMID:23437051 PMID:23463692 PMID:23505238 PMID:23505242 PMID:23524442 PMID:23588594 PMID:23592051 PMID:23633568 PMID:23716950 PMID:23800337 PMID:23844200 PMID:23847694 PMID:23862117 PMID:23867542 PMID:23907647 PMID:23973724 PMID:23981758 PMID:24033266 PMID:24071932 PMID:24082139 PMID:24117178 PMID:24123366 PMID:24158885 PMID:24233262 PMID:24251727 PMID:24261781 PMID:24263150 PMID:24289199 PMID:24301775 PMID:24318677 PMID:24369413 PMID:24381109 PMID:24383976 PMID:24424166 PMID:24433404 PMID:24469716 PMID:24630722 PMID:24702757 PMID:24718488 PMID:24797171 PMID:24862656 PMID:24929125 PMID:24950168 PMID:24965843 PMID:25006247 PMID:25036384 PMID:25073670 PMID:25088882 PMID:25203624 PMID:25261100 PMID:25286988 PMID:25332561 PMID:25393764 PMID:25615955 PMID:25626331 PMID:25648235 PMID:25671271 PMID:25703702 PMID:25708585 PMID:25741868 PMID:25760918 PMID:25793047 PMID:25821352 PMID:25866490 PMID:25959027 PMID:25974247 PMID:26003477 PMID:26027984 PMID:26028444 PMID:26078663 PMID:26131005 PMID:26215181 PMID:26247045 PMID:26299986 PMID:26351556 PMID:26360812 PMID:26413094 PMID:26467025 PMID:26510601 PMID:26537665 PMID:26554556 PMID:26574972 PMID:26585190 PMID:26620106 PMID:26690517 PMID:26722138 PMID:26759267 PMID:26843738 PMID:26933204 PMID:27030597 PMID:27100444 PMID:27310525 PMID:27332769 PMID:27333294 PMID:27364639 PMID:27457448 PMID:27473114 PMID:27513391 PMID:27535533 PMID:27621632 PMID:27659338 PMID:27733942 PMID:27838405 PMID:27872624 PMID:27884173 PMID:27980538 PMID:27994174 PMID:28001092 PMID:28211254 PMID:28289585 PMID:28302131 PMID:28340799 PMID:28386255 PMID:28421071 PMID:28483595 PMID:28492532 PMID:28573371 PMID:28590056 PMID:28597968 PMID:28750028 PMID:28814775 PMID:28863210 PMID:28927886 PMID:28943464 PMID:29047407 PMID:29080837 PMID:29148036 PMID:29151129 PMID:29159471 PMID:29178647 PMID:29260407 PMID:29314707 PMID:29363386 PMID:29379228 PMID:29526930 PMID:29543225 PMID:29579081 PMID:29599418 PMID:29735907 PMID:29808155 PMID:29927949 PMID:30171907 PMID:30235678 PMID:30407166 PMID:30409984 PMID:30476289 PMID:30487145 PMID:30546872 PMID:30783801 PMID:30887796 PMID:30915208 PMID:30996171 PMID:31088470 PMID:31204589 PMID:31264586 PMID:31329540 PMID:31411330 PMID:31531243 PMID:31620089 PMID:31646357 PMID:31989427 PMID:31998953 PMID:32082075 PMID:32199921 PMID:32312770 PMID:32401353 PMID:32461654 PMID:32741030 PMID:32853466 PMID:32909274 PMID:33223529 PMID:33331265 PMID:33440462 PMID:33497256 PMID:33560333 PMID:33715276 PMID:33726481 PMID:33733382 PMID:33738724 PMID:33813620 PMID:34426522 PMID:35098403 PMID:20217092 PMID:23038988 PMID:23862117 More...
RGD:5129184 , RGD:7349344 , RGD:7349343
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:27225849 PMID:28492532 PMID:28862642 More...
NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:9288094 PMID:9288758 PMID:9527614 PMID:9668175 PMID:9781020 PMID:10024914 PMID:10090880 PMID:10234504 PMID:10364520 PMID:10447272 PMID:10612841 PMID:10737992 PMID:10737995 PMID:10787449 PMID:10842288 PMID:10852276 PMID:10854115 PMID:10879615 PMID:10905662 PMID:10980540 PMID:11017802 PMID:11175300 PMID:11464238 PMID:11464248 PMID:11468188 PMID:11588211 PMID:11903360 PMID:11938447 PMID:11977178 PMID:12064853 PMID:12105243 PMID:12180071 PMID:12401847 PMID:12687559 PMID:12908875 PMID:12929299 PMID:12955725 PMID:14578331 PMID:14612366 PMID:14679589 PMID:14727057 PMID:15020340 PMID:15024140 PMID:15024744 PMID:15168590 PMID:15458961 PMID:15643295 PMID:15717684 PMID:15745878 PMID:15805719 PMID:15868622 PMID:15942916 PMID:15951859 PMID:16179998 PMID:16255051 PMID:16378925 PMID:16439335 PMID:16439437 PMID:16523438 PMID:16614989 PMID:16627024 PMID:16785446 PMID:16889173 PMID:17331080 PMID:17489852 PMID:17566872 PMID:18097735 PMID:18307385 PMID:18328141 PMID:18353061 PMID:18386244 PMID:18496034 PMID:18609258 PMID:18662100 PMID:19026119 PMID:19151977 PMID:19253030 PMID:19449169 PMID:19466506 PMID:19479870 PMID:19784369 PMID:19786432 PMID:19790133 PMID:19820229 PMID:19845843 PMID:19863562 PMID:19929404 PMID:19934083 PMID:19967574 PMID:20008920 PMID:20008924 PMID:20041150 PMID:20044784 PMID:20051664 PMID:20165923 PMID:20177433 PMID:20301405 PMID:20437121 PMID:20483145 PMID:20485448 PMID:20534143 PMID:20602240 PMID:20645115 PMID:20669279 PMID:20721559 PMID:20828792 PMID:20890251 PMID:21153919 PMID:21246368 PMID:21290976 PMID:21358337 PMID:21413889 PMID:21598804 PMID:21598806 PMID:21600797 PMID:21623663 PMID:21995303 PMID:22019805 PMID:22037353 PMID:22190688 PMID:22261745 PMID:22532615 PMID:22566169 PMID:22614345 PMID:22661645 PMID:22878273 PMID:22903357 PMID:22975760 PMID:22995991 PMID:23031807 PMID:23038988 PMID:23155201 PMID:23164758 PMID:23206577 PMID:23280696 PMID:23334425 PMID:23400211 PMID:23505238 PMID:23588594 PMID:23592051 PMID:23716950 PMID:23800337 PMID:23844200 PMID:23907647 PMID:23973724 PMID:24033266 PMID:24071932 PMID:24082139 PMID:24123366 PMID:24263150 PMID:24289199 PMID:24318677 PMID:24369413 PMID:24424166 PMID:24433404 PMID:24469716 PMID:24797171 PMID:24862656 PMID:24929125 PMID:24965843 PMID:25073670 PMID:25261100 PMID:25393764 PMID:25648235 PMID:25703702 PMID:25708585 PMID:25741868 PMID:25760918 PMID:25793047 PMID:25866490 PMID:25959027 PMID:25974247 PMID:26003477 PMID:26131005 PMID:26215181 PMID:26247045 PMID:26351556 PMID:26360812 PMID:26413094 PMID:26467025 PMID:26510601 PMID:26537665 PMID:26690517 PMID:26722138 PMID:26759267 PMID:26843738 PMID:27030597 PMID:27364639 PMID:27457448 PMID:27473114 PMID:27513391 PMID:27621632 PMID:27659338 PMID:27872624 PMID:27884173 PMID:27980538 PMID:27994174 PMID:28001092 PMID:28302131 PMID:28386255 PMID:28421071 PMID:28492532 PMID:28573371 PMID:28590056 PMID:28927886 PMID:29047407 PMID:29080837 PMID:29178647 PMID:29260407 PMID:29314707 PMID:29543225 PMID:29599418 PMID:29735907 PMID:29808155 PMID:30171907 PMID:30409984 PMID:30476289 PMID:30487145 PMID:30783801 PMID:30915208 PMID:31204589 PMID:31411330 PMID:31989427 PMID:32082075 PMID:32199921 PMID:32312770 PMID:32401353 PMID:32461654 PMID:32741030 PMID:32853466 PMID:33223529 PMID:33440462 PMID:33497256 PMID:33560333 PMID:33715276 PMID:33726481 PMID:33738724 PMID:34426522 More...
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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
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
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
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
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
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
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 PMID:21953331 PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532 More...
NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
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
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
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
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
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 PMID:10369262 PMID:10401001 PMID:10417275 PMID:10896296 PMID:11111075 PMID:11313768 PMID:11313769 PMID:12387810 PMID:12444096 PMID:12477733 PMID:12563048 PMID:12634869 PMID:13130485 PMID:15188372 PMID:15457465 PMID:15536479 PMID:16199547 PMID:16255052 PMID:16435210 PMID:16835861 PMID:17105862 PMID:17576681 PMID:17596604 PMID:18008182 PMID:18414213 PMID:19011501 PMID:19786432 PMID:19877056 PMID:20194276 PMID:21225694 PMID:21228398 PMID:21425920 PMID:21548022 PMID:22038276 PMID:22246419 PMID:22983302 PMID:23006543 PMID:23146290 PMID:23692791 PMID:23707710 PMID:23834120 PMID:23979089 PMID:23998246 PMID:24033266 PMID:24073415 PMID:24084495 PMID:24088041 PMID:24177804 PMID:24233262 PMID:24360083 PMID:24411001 PMID:24470648 PMID:24531851 PMID:24561416 PMID:25708585 PMID:25741868 PMID:25866490 PMID:26116953 PMID:26299986 PMID:26386126 PMID:26409462 PMID:26633545 PMID:26935981 PMID:26977311 PMID:26986117 PMID:27012807 PMID:27142780 PMID:27213830 PMID:27377765 PMID:28095071 PMID:28359055 PMID:28492532 PMID:28501347 PMID:29047407 PMID:31474985 PMID:32822427 PMID:33917151 PMID:35387795 More...
NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882
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
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
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 PMID:12522564 PMID:14872505 PMID:15020601 PMID:15593220 PMID:16100350 PMID:16255047 PMID:16646042 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17393462 PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 PMID:20159265 PMID:20182451 PMID:20472245 PMID:21058222 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:22128899 PMID:22193915 PMID:22403613 PMID:22524199 PMID:22529966 PMID:22566169 PMID:22843550 PMID:22935299 PMID:23015306 PMID:23421920 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24431285 PMID:24649046 PMID:24759409 PMID:25038238 PMID:25586466 PMID:25596455 PMID:25639832 PMID:25730877 PMID:25741868 PMID:25821352 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27191192 PMID:27612399 PMID:27819323 PMID:27943240 PMID:27943647 PMID:27994174 PMID:28028683 PMID:28137891 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28692792 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29922587 PMID:29977033 PMID:30214525 PMID:30407166 PMID:30808881 PMID:32082075 PMID:32199921 PMID:33329557 More...
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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 PMID:30804083 PMID:35170849 PMID:35587511 More...
NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422
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
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
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
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
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
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
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
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 PMID:25401470 PMID:25741868 PMID:26235147 PMID:27613991 PMID:28166811 PMID:28484079 PMID:28492532 More...
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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 PMID:12019468 PMID:12512038 PMID:12557156 PMID:12577202 PMID:12650796 PMID:12673278 PMID:12704363 PMID:14765395 PMID:15002819 PMID:15024686 PMID:15190267 PMID:15198989 PMID:15571588 PMID:15770725 PMID:15967635 PMID:16010583 PMID:16416181 PMID:16669960 PMID:17301648 PMID:17489054 PMID:18240302 PMID:18489434 PMID:18541930 PMID:18942754 PMID:19103559 PMID:19184348 PMID:19184350 PMID:19185283 PMID:19349988 PMID:19397946 PMID:19467619 PMID:19641059 PMID:19713276 PMID:19748964 PMID:20047977 PMID:20332463 PMID:20713205 PMID:20959815 PMID:21274544 PMID:21335489 PMID:21460759 PMID:21548950 PMID:21565239 PMID:21745302 PMID:21830272 PMID:21914217 PMID:21951874 PMID:21983784 PMID:21994160 PMID:22275320 PMID:22344438 PMID:22440928 PMID:22543157 PMID:22684479 PMID:22939045 PMID:23102769 PMID:23128233 PMID:23173613 PMID:23615072 PMID:23633568 PMID:23709157 PMID:24033266 PMID:24047397 PMID:24345423 PMID:24586700 PMID:24597572 PMID:25365249 PMID:25741868 PMID:26042516 PMID:26070941 PMID:26167078 PMID:26500656 PMID:27306066 PMID:27373512 PMID:28008999 PMID:28422189 PMID:28492532 PMID:28658209 PMID:28750667 PMID:29178652 PMID:29248579 PMID:29321258 PMID:29446656 PMID:29795570 PMID:29867916 PMID:30166421 PMID:30167848 PMID:30552907 PMID:30553995 PMID:32597225 PMID:32716958 More...
NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
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
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