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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;   RDO:0000388
For additional species annotation, visit the Alliance of Genome Resources.



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 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194622 PMID:27028940 NCBI chr 7:129,098,489...129,127,620
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 1:80,140,495...80,168,705
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 with migratory circinate erythema OMIM
ClinVar
PMID:7520042 PMID:8807337 PMID:9036937 PMID:12925204 PMID:15324323 More... NCBI chr 7:132,846,355...132,851,986
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 5:104,009,839...104,019,082
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 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd8a CD8a molecule susceptibility ISO associated with adult T-cell leukemia;mRNA:increased expression:blood (human) RGD PMID:32433748 RGD:124715447 NCBI chr 4:103,365,804...103,370,041
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 5:159,035,892...159,049,561
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 chr20:4,596,558...4,602,201
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 9:14,955,300...14,970,641
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 9:2,087,437...2,114,366
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 chr20:3,970,643...3,976,510
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 2:195,649,845...195,655,402
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 chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G RT1-A1 RT1 class Ia, locus A1 ISO associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human) RGD PMID:12198697 RGD:7364926 NCBI chr20:4,905,309...4,914,593 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 chr20:3,314,984...3,318,037 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 chr20:3,622,011...3,624,629
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 7:128,987,981...129,037,677
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 chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO DNA:missense mutations:cds:p.G12D, p.L209F (human)
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
CTD
RGD
PMID:9843209 PMID:16297190 PMID:25556823 PMID:22681493 PMID:21188847 More... RGD:1578480, RGD:11251416, RGD:12437067, RGD:12436734, RGD:11097171, RGD:12436731, RGD:12436729, RGD:12050153 NCBI chr 5:139,649,227...139,655,083
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 OMIM
ClinVar
PMID:9843209 PMID:9843210 PMID:10587579 PMID:10594760 PMID:10798362 More... NCBI chr 5:139,649,227...139,655,083
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
OMIM
PMID:148984 PMID:6437964 PMID:11017804 PMID:12648223 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 ClinVar
OMIM
PMID:25398053 PMID:28492532 NCBI chr20:35,756,007...35,768,481
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 ClinVar
OMIM
PMID:25741868 PMID:28575652 NCBI chr13:22,862,117...22,894,118
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
OMIM
PMID:27965375 NCBI chr 7:132,547,388...132,554,978
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:28492532 PMID:30528822 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 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...139,655,083
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 ClinVar Annotator: match by term: Keratolytic winter erythema OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr15:37,389,636...37,410,508
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: Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
CTD Direct Evidence: marker/mechanism
DNA:mutation:splice junction:
OMIM
ClinVar
CTD
RGD
PMID:19057675 PMID:23423674 PMID:25741868 PMID:30244301 PMID:19057675 RGD:9684947 NCBI chr12:19,625,267...19,635,792
Ensembl chr12:19,625,332...19,756,713
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 chr14:17,607,397...17,622,814
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 chr13:85,373,338...85,374,134
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 5:149,133,635...149,136,482
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 5:149,127,424...149,130,732
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 4:45,640,624...45,673,708
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:1,162,014...1,167,576
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 chr15:40,161,068...40,200,315
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 chr13:85,131,635...85,175,179
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 chr10:83,660,787...83,664,569
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 8:120,640,008...120,667,110
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 7:89,404,413...89,427,095
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 chr17:44,286,495...44,822,788
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 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,178,529
Ensembl chr 7:113,106,247...113,178,529
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 2:195,649,845...195,655,402
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 7:53,903,339...53,907,375
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 3:146,953,889...146,981,032
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 chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...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...44,810,723
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 chr10:63,815,308...63,851,208
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 chr13:92,307,593...92,339,406
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 8:58,627,347...58,661,927
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 chr11:230,597...311,288
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 3:155,928,564...155,964,228
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 chr15:48,371,295...48,502,473
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 7:112,976,863...113,001,051
Ensembl chr 7:112,990,835...113,001,051
JBrowse link
G RT1-A1 RT1 class Ia, locus A1 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
PMID:15057820 PMID:15743917 PMID:16538176 PMID:18855540 PMID:19694795 More... NCBI chr20:4,905,309...4,914,593 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 chr20:4,596,558...4,602,201
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 chr20:3,314,984...3,318,037 JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:blister: RGD PMID:9852250 RGD:7401184 NCBI chr20:3,622,011...3,624,629
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 5:57,210,167...57,229,571
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 4:158,360,152...158,491,539
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 immuity regulator, pyrin ISO ClinVar Annotator: match by term: Acute febrile neutrophilic dermatosis OMIM
ClinVar
PMID:9288094 PMID:9288758 PMID:9781020 PMID:10024914 PMID:10090880 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 chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:skin RGD PMID:21658319 RGD:8657060 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    sensory system disease 5700
      skin disease 3004
        Erythema 73
          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 + 9
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        sensory system disease 5700
          skin disease 3004
            Erythema 73
              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 + 9
paths to the root