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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Erythema
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Accession:DOID:9006976 term browser browse the term
Definition:Redness of the skin produced by congestion of the capillaries. This condition may result from a variety of causes.
Synonyms:exact_synonym: Erythemas
 primary_id: MESH:D004890


show annotations for term's descendants           Sort by:
Erythema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15108178 NCBI chr  X:105,942,794...106,006,573
Ensembl chr  X:105,942,799...106,006,427 		JBrowse link
G C9 complement C9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11359403 NCBI chr 2:57,300,510...57,348,759
Ensembl chr 2:55,572,992...55,621,338 		JBrowse link
G Camp cathelicidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:35926563 NCBI chr 8:118,720,184...118,721,998
Ensembl chr 8:109,841,729...109,843,543 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194622 PMID:27028940 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Fermt1 FERM domain containing kindlin 1 ISO Kindler syndrome, OMIM:173650 RGD PMID:12668616 RGD:1600405 NCBI chr 3:120,171,301...120,213,555
Ensembl chr 3:120,171,561...120,213,555 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24594932 NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
Epidermolysis Bullosa Simplex 2E with Migratory Circinate Erythema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7520042 PMID:8807337 PMID:9036937 PMID:12925204 PMID:15324323 More... NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850 		JBrowse link
erythema infectiosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO associated with Leukemia, Myeloid, Acute;DNA:hypermethylation:promoter: RGD PMID:18384396 RGD:11252189 NCBI chr 5:109,123,308...109,134,906
Ensembl chr 5:104,010,680...104,019,050 		JBrowse link
erythema multiforme term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd8a CD8 subunit alpha susceptibility ISO associated with adult T-cell leukemia;mRNA:increased expression:blood (human) RGD PMID:32433748 RGD:124715447 NCBI chr 4:104,924,116...104,928,353
Ensembl chr 4:103,365,804...103,370,040 		JBrowse link
G Masp2 MBL associated serine protease 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 5:164,319,017...164,332,686
Ensembl chr 5:159,035,911...159,049,580 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms (human) RGD PMID:9627123 RGD:5147868 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
erythema nodosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cfb complement factor B ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with Behcet Syndrome;DNA:deletion:: (human) RGD PMID:22766250 RGD:7794848 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Lta lymphotoxin alpha ISO associated with Sarcoidosis;DNA:polymorphism:intron RGD PMID:19225544 RGD:8548773 NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human) RGD PMID:12198697 RGD:7364926 NCBI chr20:3,314,491...3,322,815 JBrowse link
G Tnf tumor necrosis factor susceptibility ISO associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human) RGD PMID:12198697 RGD:7364926 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human) RGD PMID:24880677 RGD:13217417 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
erythrokeratodermia variabilis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO DNA:mutations:cds:p.E227D,p.A44V(human) RGD PMID:25398053 RGD:11568612 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Gjb3 gap junction protein, beta 3 ISO
ISS		 DNA:missense mutations:cds:p.G12D, p.L209F (human)
ClinVar Annotator: match by term: ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC
DNA:missense mutation:exon:p.T202N (c.605C>A) (human)
DNA:missense mutation:exon:p.G45E (c.134G>A)(human)
DNA:missense mutation:exon:p.L135V (c.403C>G) (human)
DNA:missense mutation:exon:p.R42P (125G>C) (human)
DNA:missense mutation:exon:p.L209F (625C>T) (human)
DNA:missense mutations:exon:p.G12R (34G>C), p.G12D (35G>A), p.C86S (256T>A) (human)
DNA:missense mutation:cds:p.R42P (human)
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:9843209 PMID:9843210 PMID:12019212 PMID:19050930 PMID:24033266 More... RGD:1578480, RGD:11251416, RGD:12437067, RGD:12436734, RGD:11097171, RGD:12436731, RGD:12436729, RGD:12050153 NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980 		JBrowse link
G Gjb4 gap junction protein, beta 4 ISO DNA:missense mutations:exon:multiple
DNA:missense mutation:exon:p.C86S (c.256T>A) (human)
DNA:missense mutation: :p.F137L (human)		 RGD PMID:12648223 PMID:23037955 PMID:11017804 RGD:1598970, RGD:12437072, RGD:1598971 NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667 		JBrowse link
erythrokeratodermia variabilis et progressiva 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 | ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 ClinVar
OMIM		 PMID:9843209 PMID:9843210 PMID:10587579 PMID:10594760 PMID:10798362 More... NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980 		JBrowse link
G Gjb4 gap junction protein, beta 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 ClinVar PMID:25741868 NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667 		JBrowse link
G Nipal4 NIPA-like domain containing 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 ClinVar NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640 		JBrowse link
erythrokeratodermia variabilis et progressiva 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb4 gap junction protein, beta 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 2 | ClinVar Annotator: match by term: GJB4-related condition OMIM
ClinVar		 PMID:148984 PMID:6437964 PMID:11017804 PMID:11933201 PMID:12648223 More... NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667 		JBrowse link
erythrokeratodermia variabilis et progressiva 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 3 OMIM
ClinVar		 PMID:25398053 PMID:28492532 PMID:30628963 PMID:30631135 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
erythrokeratodermia variabilis et progressiva 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28575652 PMID:28774589 NCBI chr13:23,374,101...23,408,779
Ensembl chr13:22,862,117...22,894,108 		JBrowse link
erythrokeratodermia variabilis et progressiva 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt83 keratin 83 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 5 | ClinVar Annotator: match by term: KRT83-related condition OMIM
ClinVar		 PMID:25741868 PMID:27965375 PMID:28492532 NCBI chr 7:132,604,180...132,610,869
Ensembl chr 7:132,604,128...132,610,799 		JBrowse link
G Krt87 keratin 87 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 5 | ClinVar Annotator: match by term: KRT83-related condition OMIM
ClinVar		 PMID:25741868 PMID:27965375 PMID:28492532 NCBI chr 7:132,547,388...132,555,005
Ensembl chr 7:132,548,141...132,554,978 		JBrowse link
erythrokeratodermia variabilis et progressiva 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25299611 PMID:25741868 More... NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
Erythrokeratodermia Variabilis et Progressiva 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Perp p53 apoptosis effector related to PMP22 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 7 | ClinVar Annotator: match by term: PERP-related condition OMIM
ClinVar		 PMID:30321533 PMID:31898316 NCBI chr 1:13,542,067...13,554,514
Ensembl chr 1:13,542,067...13,554,511 		JBrowse link
Erythrokeratodermia Variabilis, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb3 gap junction protein, beta 3 ISO DNA:missense mutation:CDS:p.L34P (101T>C) (human)
DNA:missense mutation:exon:p.V30I (c.G88A) (human)		 RGD PMID:12019212 PMID:21564177 RGD:12050155, RGD:12436733 NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980 		JBrowse link
Keratoderma Palmoplantaris Transgrediens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS ClinVar PMID:9843210 PMID:12019212 PMID:19050930 PMID:24033266 PMID:25741868 More... NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980 		JBrowse link
Keratolytic Winter Erythema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsb cathepsin B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CTSB-related condition | ClinVar Annotator: match by term: Keratolytic winter erythema		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr15:41,565,607...41,586,479
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
MEDNIK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 ISO ClinVar Annotator: match by term: AP1S1-related condition | ClinVar Annotator: match by term: MEDNIK syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:splice junction:		 OMIM
ClinVar
CTD
RGD		 PMID:1905767 PMID:16199547 PMID:19057675 PMID:23423674 PMID:25741868 More... RGD:9684947 NCBI chr12:19,625,267...19,635,792
Ensembl chr12:19,625,332...19,756,713 		JBrowse link
Nakajo Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Nodular erythema digital changes ClinVar PMID:20159315 PMID:20534754 PMID:21129723 PMID:21953331 PMID:25741868 More... NCBI chr20:4,654,068...4,657,049
Ensembl chr20:4,652,159...4,655,283 		JBrowse link
Stevens-Johnson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: therapeutic CTD PMID:12239465 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Apcs amyloid P component, serum ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr13:85,373,219...85,374,195
Ensembl chr13:85,373,220...85,374,298 		JBrowse link
G C1qa complement C1q A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:149,133,636...149,136,534 		JBrowse link
G C1qc complement C1q C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 5:154,410,845...154,414,208
Ensembl chr 5:149,127,415...149,131,017 		JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Celf2 CUGBP, Elav-like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr17:70,904,462...71,729,072
Ensembl chr17:71,210,853...71,728,333 		JBrowse link
G Cfhr1 complement factor H-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592 		JBrowse link
G Cfp complement factor properdin ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr  X:3,715,551...3,721,113
Ensembl chr  X:1,161,979...1,167,573 		JBrowse link
G Clu clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Cops5 COP9 signalosome subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:9,192,233...9,210,498
Ensembl chr 5:9,192,100...9,210,731 		JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11321886 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Cul1 cullin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:76,551,952...76,625,830
Ensembl chr 4:76,551,983...76,627,980 		JBrowse link
G Cul4a cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr16:76,385,298...76,422,316
Ensembl chr16:76,384,546...76,422,330 		JBrowse link
G Derl1 derlin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:91,293,963...91,316,639
Ensembl chr 7:89,404,417...89,427,145 		JBrowse link
G Elmo1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr17:48,982,188...49,518,525
Ensembl chr17:44,286,485...44,822,788 		JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Fbxo6 F-box protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:158,576,729...158,582,520
Ensembl chr 5:158,576,759...158,582,525 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:28689274 RGD:14700974 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Lbp lipopolysaccharide binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 3:167,373,786...167,400,941
Ensembl chr 3:146,954,015...146,981,586 		JBrowse link
G Lrg1 leucine-rich alpha-2-glycoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 9:947,516...949,773
Ensembl chr 9:947,516...949,813 		JBrowse link
G Mif macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9372356 NCBI chr20:12,767,138...12,791,222
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504 		JBrowse link
G Mir18a microRNA 18a ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr15:92,180,765...92,180,860
Ensembl chr15:92,180,765...92,180,860 		JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:73,384,095...73,468,951
Ensembl chr 8:73,383,695...73,468,951 		JBrowse link
G Nfkbiz NFKB inhibitor zeta ISS MouseDO NCBI chr11:44,782,676...44,810,722
Ensembl chr11:44,782,676...44,810,723 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10620138 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nucb1 nucleobindin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:95,968,325...95,999,183
Ensembl chr 1:95,968,326...96,003,220 		JBrowse link
G Orm1 orosomucoid 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 5:76,766,637...76,776,149
Ensembl chr 5:76,772,941...76,776,154 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pml PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:58,628,837...58,658,971 		JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr11:13,676,310...13,757,858
Ensembl chr11:230,696...311,286 		JBrowse link
G Psmc5 proteasome 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:91,187,763...91,193,697
Ensembl chr10:91,187,743...91,213,135 		JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434 		JBrowse link
G Ptgis prostaglandin I2 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 3:176,347,589...176,383,251
Ensembl chr 3:155,916,412...155,965,451 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Rbx1 ring-box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:114,870,893...114,881,194
Ensembl chr 7:112,990,835...113,001,051 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0601 (human) RGD PMID:8841298 RGD:7483570 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility ISO DNA:polymorphisms:cds:HLA-B*5801 (human, Japanese)
DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human) 		RGD PMID:19018717 PMID:23692434 RGD:7364874, RGD:7365090 NCBI chr20:3,314,491...3,322,815 JBrowse link
G RT1-CE16 RT1 class I, locus CE16 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypersensitivity syndrome, carbamazepine-induced, susceptibility to		 CTD
OMIM
ClinVar		 PMID:16538176 PMID:21428769 PMID:23588310 NCBI chr20:3,261,656...3,265,548
Ensembl chr20:3,257,123...3,279,563 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:blister: RGD PMID:9852250 RGD:7401184 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
G Vwf von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
Sweet syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Acute febrile neutrophilic dermatosis | ClinVar Annotator: match by term: Gomm Button disease | ClinVar Annotator: match by term: MEFV-related condition OMIM
ClinVar		 PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 PMID:9336425 More... NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:skin RGD PMID:21658319 RGD:8657060 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:skin RGD PMID:21658319 RGD:8657060 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    sensory system disease 7375
      skin disease 4319
        Erythema 76
          Annular Erythema 0
          Epidermolysis Bullosa Simplex 2E with Migratory Circinate Erythema 1
          Erythema Chronicum Migrans 0
          Erythema Induratum 0
          Hooft Disease 0
          Keratolytic Winter Erythema 1
          Sweet syndrome 3
          erythema infectiosum + 1
          erythema multiforme + 49
          erythema nodosum + 8
          erythrokeratodermia variabilis + 10
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14354
        Neurologic Manifestations 10440
          sensory system disease 7375
            skin disease 4319
              Erythema 76
                Annular Erythema 0
                Epidermolysis Bullosa Simplex 2E with Migratory Circinate Erythema 1
                Erythema Chronicum Migrans 0
                Erythema Induratum 0
                Hooft Disease 0
                Keratolytic Winter Erythema 1
                Sweet syndrome 3
                erythema infectiosum + 1
                erythema multiforme + 49
                erythema nodosum + 8
                erythrokeratodermia variabilis + 10
paths to the root