Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:urticaria
go back to main search page
Accession:DOID:1555 term browser browse the term
Definition:A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.
Synonyms:exact_synonym: Hives;   Urticarias
 primary_id: MESH:D014581;   RDO:0002247
 xref: ICD9CM:708.8
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
urticaria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 susceptibility ISO DNA:polymorphism: :46A>G(human) RGD PMID:18159608 RGD:8548486 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8458210 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:increased expression:serum,skin: RGD PMID:21676041 RGD:8657027 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism,haplotype::190G>A(human) RGD PMID:23727176 RGD:8551831
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:15721839 RGD:6893392 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO DNA:frameshift mutation, haplotype: :p.S185_T195del (rs333) (human) RGD PMID:23727176 RGD:8551831 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum RGD PMID:22348297 RGD:6482310 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Hives ClinVar PMID:16638441 PMID:25741868 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Fcer1a Fc fragment of IgE receptor Ia ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 PMID:20485159 NCBI chr13:91,727,253...91,737,106
Ensembl chr13:91,730,925...91,737,053
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion: :
CTD Direct Evidence: marker/mechanism
CTD PMID:16433794, PMID:16433794 RGD:5490559 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Hnmt histamine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20485159 NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
CTD PMID:18204966, PMID:24490166, PMID:21692767 RGD:8655890, RGD:8655894 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204966 NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
JBrowse link
G Ngfr nerve growth factor receptor ISO protein:decreased expression:skin (human) RGD PMID:12653731 RGD:5508479 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 susceptibility ISO familial cold autoinflammatory syndrome, OMIM:120100;DNA:missense mutations: :multiple RGD PMID:11687797 RGD:1600862 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA:SNPs, haplotype: :rs1310182, rs2488457, rs3811021 (human) RGD PMID:22722472 RGD:7829761 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20485159, PMID:20559009 RGD:5147574 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561 NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hives ClinVar PMID:16638441 PMID:25741868 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Sod2 superoxide dismutase 2 ISO protein:increased expression:skin RGD PMID:12780723 RGD:8547524 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138248 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561 PMID:19250144 PMID:20485159 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12121561 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
Acquired Angioedema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII disease_progression ISO RGD PMID:9129025 RGD:11565081 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G F2 coagulation factor II disease_progression ISO protein:increased expression:plasma: RGD PMID:9129025 RGD:11565081 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F7 coagulation factor VII disease_progression ISO RGD PMID:9129025 RGD:11565081 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Kng2 kininogen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9734886 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Serping1 serpin family G member 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9734886 PMID:23406939 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
JBrowse link
angioedema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8458210 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G F12 coagulation factor XII ISO DNA:missense:exon:T309K,T309R
ClinVar Annotator: match by term: Quincke edema
ClinVar PMID:16638441 PMID:25741868, PMID:16638441 RGD:1601106 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16184341 PMID:18453163 PMID:20547619 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO CTD Direct Evidence: marker/mechanism CTD PMID:15784113 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15784113 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Serping1 serpin family G member 1 susceptibility ISO DNA:mutations:exon
ClinVar Annotator: match by term: Angioedema
ClinVar PMID:12402344 RGD:1600545 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Quincke edema ClinVar PMID:16638441 PMID:25741868 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Sytl2 synaptotagmin-like 2 ISO ClinVar Annotator: match by term: Angioedema ClinVar PMID:28327206 NCBI chr 1:154,536,592...154,599,515
NCBI chr 1:156,334,298...156,440,327
Ensembl chr 1:154,579,949...154,599,430
Ensembl chr 1:154,579,949...154,599,430
JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16175507 NCBI chr  X:134,940,656...134,969,874
Ensembl chr  X:134,940,615...134,969,996
JBrowse link
Angioedema Induced by ACE Inhibitors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Angioedema induced by ACE inhibitors, susceptibility to ClinVar PMID:1551674 PMID:1972698 PMID:1978554 PMID:1978555 PMID:2503817 PMID:2912069 PMID:3393536 PMID:4974311 PMID:5305539 PMID:5369703 PMID:6698555 PMID:7203486 PMID:8611726 PMID:8860013 PMID:9342374 PMID:11445808 PMID:12768444 PMID:14278484 PMID:15315792 PMID:15502081 PMID:16119988 PMID:19594365 PMID:22018328 PMID:22906047 PMID:23479361 PMID:24460025 PMID:24586352 PMID:25326637 PMID:25741868 PMID:28492532 PMID:32860008 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Xpnpep2 X-prolyl aminopeptidase 2 susceptibility ISO ClinVar Annotator: match by term: Angioedema induced by ACE inhibitors, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:16175507 PMID:20625347 PMID:21898657 NCBI chr  X:134,940,656...134,969,874
Ensembl chr  X:134,940,615...134,969,996
JBrowse link
familial cold autoinflammatory syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1
ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1
ClinVar Annotator: match by OMIM:120100
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:15334500 PMID:15593220 PMID:15724022 PMID:15801036 PMID:16081838 PMID:16100350 PMID:16255047 PMID:16646042 PMID:16802372 PMID:16920754 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17393462 PMID:17509468 PMID:17513575 PMID:18063752 PMID:18080732 PMID:18263599 PMID:18311798 PMID:19319132 PMID:19501000 PMID:20159265 PMID:20182451 PMID:20472245 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:21702021 PMID:22128899 PMID:22193915 PMID:22403613 PMID:22512814 PMID:22524199 PMID:22529966 PMID:22566169 PMID:22661645 PMID:22843550 PMID:22935299 PMID:23015306 PMID:23421920 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24365011 PMID:24431285 PMID:24517500 PMID:24649046 PMID:24759409 PMID:24773462 PMID:25038238 PMID:25584041 PMID:25586466 PMID:25596455 PMID:25730877 PMID:25741868 PMID:25766347 PMID:25821352 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26590045 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27134254 PMID:27191192 PMID:27692610 PMID:27819323 PMID:27943647 PMID:27994174 PMID:28028683 PMID:28137891 PMID:28166811 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28501347 PMID:28692792 PMID:29047407 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29163488 PMID:29322034 PMID:29922587 PMID:29977033 PMID:29988644 PMID:30214525 PMID:30311386 PMID:30338413 PMID:30407166 PMID:30431487 PMID:30808881 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3
ClinVar Annotator: match by OMIM:614468
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22236196 PMID:25640679 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29590070 PMID:29921932 PMID:30273710 PMID:30344948 PMID:30619256 NCBI chr19:50,039,410...50,173,543
Ensembl chr19:50,045,020...50,173,220
JBrowse link
hereditary angioedema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII disease_progression ISO DNA:deletion mutations:exon,intron:
ClinVar Annotator: match by term: Hereditary angioneurotic edema
ClinVar Annotator: match by term: Hereditary Angioedema
ClinVar Annotator: match by term: Angioedemas, Hereditary
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 PMID:19474702 PMID:19477491 PMID:20490261 PMID:24033266 PMID:25050900 PMID:25741868 PMID:25744496 PMID:25790805 PMID:28492532 PMID:30943683, PMID:21849258, PMID:9129025 RGD:11041802, RGD:11565081 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G F2 coagulation factor II disease_progression ISO protein:increased expression:plasma: RGD PMID:9129025 RGD:11565081 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F7 coagulation factor VII disease_progression ISO RGD PMID:9129025 RGD:11565081 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Kng2 kininogen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9734886 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Hereditary angioneurotic edema ClinVar NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
JBrowse link
G Serping1 serpin family G member 1 treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by OMIM:106100
CTD
ClinVar
PMID:9734886 PMID:19477491 PMID:23406939 PMID:23634741 PMID:23844784 PMID:23866957, PMID:15356570, PMID:22800873 RGD:8661260, RGD:8661265 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hereditary Angioedema
ClinVar Annotator: match by term: Hereditary angioneurotic edema
ClinVar Annotator: match by term: Angioedemas, Hereditary
ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 PMID:19474702 PMID:20490261 PMID:24033266 PMID:25050900 PMID:25741868 PMID:25744496 PMID:25790805 PMID:28492532 PMID:30943683 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
Hereditary Angioedema Type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt1 angiopoietin 1 ISO ClinVar Annotator: match by term: Hereditary angioedema, type III ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:81,338,327...81,592,459
Ensembl chr 7:81,342,280...81,592,206
JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Hereditary angioedema, type III
ClinVar Annotator: match by term: ESTROGEN-RELATED HAE
OMIM
ClinVar
PMID:8528215 PMID:9354665 PMID:9490684 PMID:10361128 PMID:10984376 PMID:11843842 PMID:16638441 PMID:17186468 PMID:17825897 PMID:18974842 PMID:19178938 PMID:19474702 PMID:19786295 PMID:19933701 PMID:20303064 PMID:20490261 PMID:21690105 PMID:21920016 PMID:23188048 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:25744496 PMID:25790805 PMID:26286125 PMID:27130860 PMID:28492532 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hereditary angioedema, type III
ClinVar Annotator: match by term: ESTROGEN-RELATED HAE
ClinVar PMID:8528215 PMID:9354665 PMID:9490684 PMID:10361128 PMID:10984376 PMID:11843842 PMID:16638441 PMID:17186468 PMID:17825897 PMID:18974842 PMID:19178938 PMID:19474702 PMID:19786295 PMID:19933701 PMID:20303064 PMID:20490261 PMID:21690105 PMID:21920016 PMID:23188048 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:25744496 PMID:25790805 PMID:26286125 PMID:27130860 PMID:28492532 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
Hereditary Angioedema Types I and II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1s complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:3184114 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Hereditary angioneurotic edema ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 PMID:19474702 PMID:20490261 PMID:24033266 PMID:25050900 PMID:25741868 PMID:25744496 PMID:25790805 PMID:28492532 PMID:30943683 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Hereditary angioneurotic edema ClinVar NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
JBrowse link
G Serping1 serpin family G member 1 ISO ClinVar Annotator: match by term: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
ClinVar Annotator: match by term: Hereditary angioedema type 1
ClinVar Annotator: match by term: Hereditary angioedema, type II
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Angioedema, hereditary, autosomal recessive
ClinVar
OMIM
CTD
PMID:1339401 PMID:1363816 PMID:1644161 PMID:1684567 PMID:1885769 PMID:2296585 PMID:2365061 PMID:2563376 PMID:2723063 PMID:2890659 PMID:3178731 PMID:3587308 PMID:8396558 PMID:8755917 PMID:15806011 PMID:16813612 PMID:17137866 PMID:18387221 PMID:18758157 PMID:20864152 PMID:22994404 PMID:24033266 PMID:25741868 PMID:28194776 PMID:28492532 PMID:29753808 PMID:30847342 PMID:31959500 PMID:31982983 PMID:33034800 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hereditary angioneurotic edema ClinVar PMID:10984376 PMID:16638441 PMID:17186468 PMID:17825897 PMID:19178938 PMID:19474702 PMID:20490261 PMID:24033266 PMID:25050900 PMID:25741868 PMID:25744496 PMID:25790805 PMID:28492532 PMID:30943683 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
Muckle-Wells syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:22146561 RGD:6906895 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME
ClinVar Annotator: match by term: UDA syndrome
ClinVar Annotator: match by OMIM:191900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11687797 PMID:11992256 PMID:12032915 PMID:12522564 PMID:15020601 PMID:16100350 PMID:16255047 PMID:17178739 PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 PMID:19501000 PMID:20182451 PMID:20472245 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:22128899 PMID:22193915 PMID:22403613 PMID:22524199 PMID:22529966 PMID:22843550 PMID:22935299 PMID:23015306 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24135410 PMID:24158955 PMID:24365011 PMID:24431285 PMID:24517500 PMID:24649046 PMID:24759409 PMID:24773462 PMID:25586466 PMID:25596455 PMID:25730877 PMID:25741868 PMID:25766347 PMID:25821352 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26590045 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27191192 PMID:27819323 PMID:27943647 PMID:28028683 PMID:28137891 PMID:28166811 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28692792 PMID:29047407 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29322034 PMID:29977033 PMID:30214525 PMID:30431487 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    sensory system disease 5424
      skin disease 2807
        urticaria 40
          Aquagenic Urticaria 0
          Muckle-Wells syndrome 2
          Papular Urticaria 0
          Urticaria, Familial Localized Heat 0
          allergic urticaria 0
          angioedema + 16
          chronic urticaria + 0
          familial cold autoinflammatory syndrome 1 1
          familial cold autoinflammatory syndrome 3 1
          physical urticaria + 0
Path 2
Term Annotations click to browse term
  disease 16977
    disease of anatomical entity 16343
      Immune & Inflammatory Diseases 3717
        immune system disease 3075
          allergic disease 573
            Immediate Hypersensitivity 442
              urticaria 40
                Aquagenic Urticaria 0
                Muckle-Wells syndrome 2
                Papular Urticaria 0
                Urticaria, Familial Localized Heat 0
                allergic urticaria 0
                angioedema + 16
                chronic urticaria + 0
                familial cold autoinflammatory syndrome 1 1
                familial cold autoinflammatory syndrome 3 1
                physical urticaria + 0
paths to the root