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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:hypersensitivity reaction disease
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Accession:DOID:0060056 term browser browse the term
Definition:An immune system disease that has_material_basis_in abnormal immune responses. (DO)
Synonyms:primary_id: RDO:9003297
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
allergic cutaneous vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3 colony stimulating factor 3 treatment ISO associated with Severe Congenital Neutropenia; RGD PMID:20100783 RGD:11039037 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
arthus reaction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase treatment IMP RGD PMID:22228807 RGD:11040701 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
JBrowse link
G Cfd complement factor D IDA RGD PMID:10605043 RGD:1624328 NCBI chr 7:12,634,216...12,635,939
Ensembl chr 7:12,634,216...12,635,943
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:23470165 RGD:9068463 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa treatment ISO RGD PMID:10762218 RGD:9588604 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
autoimmune lymphoproliferative syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Ankrd22 ankyrin repeat domain 22 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,430,750...252,461,346
Ensembl chr 1:252,429,677...252,461,461
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,807,062...252,811,409
Ensembl chr 1:252,807,065...252,808,380
JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome
DNA:mutations:cds:555C>T,889A>G(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601859
OMIM
ClinVar
CTD
PMID:4852259 PMID:7540117 PMID:9028321 PMID:9927496 PMID:10090885 PMID:10515860 PMID:10875918 PMID:12657942 PMID:15459303 PMID:15877736 PMID:16537120 PMID:17674358 PMID:20682655 PMID:20935634 PMID:21183795 PMID:21490157 PMID:21625619 PMID:22237435 PMID:23407489 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26942442 PMID:28492532, PMID:10200300, PMID:9028321, PMID:10497009 RGD:12904015, RGD:12903983, RGD:12903956 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO ClinVar Annotator: match by OMIM:601859
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
OMIM
PMID:17605793 PMID:25741868 PMID:28492532 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Ifit2 interferon-induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,894,663...252,900,727
Ensembl chr 1:252,894,663...252,900,726
JBrowse link
G Ifit3 interferon-induced protein with tetratricopeptide repeats 3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,906,234...252,911,377
Ensembl chr 1:252,906,234...252,911,382
JBrowse link
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
JBrowse link
G Lipm lipase, family member M ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,409,232...252,428,567
Ensembl chr 1:252,409,268...252,428,774
JBrowse link
G Lipn lipase, family member N ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,375,941...252,394,226
Ensembl chr 1:252,375,933...252,396,460
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Stambpl1 STAM binding protein-like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,490,125...252,536,113
Ensembl chr 1:252,497,452...252,536,104
JBrowse link
autoimmune lymphoproliferative syndrome type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Caspase-8 deficiency
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
OMIM
PMID:12353035 PMID:15601643 PMID:15998955 PMID:17293864 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30267714 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
autoimmune lymphoproliferative syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcd protein kinase C, delta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III OMIM
ClinVar
PMID:11976687 PMID:23319571 PMID:23430113 PMID:23666743 PMID:25741868 PMID:28492532 PMID:30257684 NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
JBrowse link
autoimmune lymphoproliferative syndrome type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV
ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder
OMIM
ClinVar
PMID:2278970 PMID:3122217 PMID:3627975 PMID:7773929 PMID:8439212 PMID:12460918 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17910045 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20978259 PMID:21063026 PMID:21079152 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22392911 PMID:22407852 PMID:22499344 PMID:22683711 PMID:22734028 PMID:23014527 PMID:23096712 PMID:23182985 PMID:23406027 PMID:24033266 PMID:24558511 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25808193 PMID:26623049 PMID:28492532 PMID:29298116 PMID:31891627 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV OMIM
ClinVar
PMID:2407301 PMID:2674680 PMID:2989702 PMID:8120410 PMID:16291983 PMID:17332249 PMID:17517660 PMID:18375819 PMID:18390968 PMID:19657110 PMID:19775298 PMID:20130576 PMID:20179705 PMID:21079152 PMID:23414587 PMID:23431193 PMID:25157968 PMID:26619011 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1a ClinVar PMID:4165068 PMID:4852259 PMID:7539157 PMID:7540117 PMID:8929361 PMID:9028321 PMID:9821419 PMID:9927496 PMID:10090885 PMID:10200300 PMID:10515860 PMID:10709732 PMID:15459302 PMID:20935634 PMID:21490157 PMID:23407489 PMID:26942442 PMID:28492532 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Faslg Fas ligand ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1b ClinVar PMID:8787672 PMID:25741868 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd28 Cd28 molecule ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V ClinVar PMID:28492532 PMID:29729943 PMID:30326257 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V
ClinVar Annotator: match by term: CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION
OMIM
ClinVar
PMID:25213377 PMID:25329329 PMID:25741868 PMID:26478010 PMID:26884280 PMID:27102614 PMID:27577878 PMID:27908448 PMID:28492532 PMID:28960754 PMID:29077208 PMID:29225858 PMID:29305966 PMID:29729943 PMID:30048690 PMID:30250467 PMID:30326257 PMID:30443250 PMID:30940614 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V ClinVar PMID:28492532 PMID:29729943 PMID:30326257 NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
JBrowse link
G Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V ClinVar PMID:28492532 PMID:29729943 PMID:30326257 NCBI chr 9:67,290,004...67,370,208
Ensembl chr 9:67,293,309...67,341,341
JBrowse link
Blau syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility ISO ClinVar Annotator: match by term: Blau syndrome
ClinVar Annotator: match by term: Jabs syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sarcoidosis, early-onset
ClinVar Annotator: match by OMIM:186580
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snp:cds:p.E383K (human)
DNA:snp:cds:p.E383G (human)
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
OMIM
ClinVar
CTD
PMID:7825454 PMID:9124059 PMID:11087742 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11528384 PMID:11875755 PMID:11910337 PMID:12019468 PMID:12115249 PMID:12512038 PMID:12557156 PMID:12577202 PMID:12626759 PMID:12630966 PMID:14508222 PMID:14522785 PMID:14765395 PMID:15024686 PMID:15044951 PMID:15086578 PMID:15190267 PMID:15198989 PMID:15320482 PMID:15459013 PMID:15554080 PMID:15571588 PMID:15712650 PMID:15770725 PMID:15812565 PMID:15967635 PMID:15998797 PMID:16278823 PMID:16485124 PMID:16804397 PMID:17157607 PMID:17207093 PMID:17393391 PMID:17941079 PMID:17968944 PMID:18056399 PMID:18240302 PMID:18419343 PMID:18489434 PMID:18507017 PMID:18541930 PMID:18718560 PMID:18955195 PMID:19116920 PMID:19467619 PMID:19479836 PMID:19479837 PMID:19713276 PMID:20032092 PMID:20039400 PMID:20084402 PMID:20199415 PMID:20230816 PMID:20565245 PMID:20959815 PMID:21274544 PMID:21335489 PMID:21548950 PMID:21830272 PMID:21914217 PMID:21983784 PMID:22319155 PMID:22470564 PMID:22509093 PMID:22684479 PMID:22926499 PMID:22942351 PMID:23102769 PMID:23334666 PMID:24033266 PMID:24391456 PMID:24583628 PMID:24595243 PMID:24713464 PMID:24803813 PMID:24876985 PMID:24960071 PMID:25093298 PMID:25136265 PMID:25416713 PMID:25429073 PMID:25741868 PMID:25829188 PMID:26070941 PMID:26164256 PMID:26316104 PMID:26500656 PMID:26606664 PMID:27306066 PMID:27339507 PMID:28492532 PMID:28639104 PMID:28814775 PMID:29248579 PMID:29503906 PMID:29697845 PMID:30166421, PMID:19479837, PMID:15812565, PMID:19116920, PMID:11528384 RGD:8547518, RGD:8547515, RGD:8158051, RGD:8158040 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO associated with hepatitis C;DNA:SNP: :3435C>T(human) RGD PMID:28453396 RGD:14700902 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Cd86 CD86 molecule ISO associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human) RGD PMID:23840845 RGD:11354974 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO associated with hepatitis C; protein:increased expression:serum RGD PMID:18775023 RGD:27095893 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Ifnl3 interferon, lambda 3 susceptibility
severity
ISO associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) RGD PMID:24293567, PMID:24293567 RGD:11528546, RGD:11528546 NCBI chr 1:85,236,243...85,237,775
Ensembl chr 1:85,236,243...85,237,775
JBrowse link
G Tcn2 transcobalamin 2 ISO associated with Glomerulonephritis;protein:increased expression:serum: RGD PMID:3574578 RGD:11060121 NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:19860001 RGD:10450529 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tslp thymic stromal lymphopoietin ISS MouseDO NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
JBrowse link
cryoglobulinemic vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO associated with Chronic Hepatitis C; mRNA:increased expression:B cell RGD PMID:26219420 RGD:30296664 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Tslp thymic stromal lymphopoietin ISO associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) RGD PMID:25889007 RGD:38596329 NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
JBrowse link
Early-Onset Sarcoidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SARCOIDOSIS, EARLY-ONSET
CTD
ClinVar
PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 PMID:11910337 PMID:12019468 PMID:12512038 PMID:12557156 PMID:12577202 PMID:14765395 PMID:15024686 PMID:15190267 PMID:15198989 PMID:15459013 PMID:15571588 PMID:15770725 PMID:15967635 PMID:18240302 PMID:18489434 PMID:18541930 PMID:19467619 PMID:19713276 PMID:20959815 PMID:21274544 PMID:21335489 PMID:21548950 PMID:21830272 PMID:21914217 PMID:22684479 PMID:23102769 PMID:24033266 PMID:25741868 PMID:26070941 PMID:26500656 PMID:28492532 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
Familial Mixed Cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc fragment of IgG receptor IIIa treatment ISO DNA:polymorphism: :p.V176F (human) RGD PMID:21538321 RGD:11344956 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
Henoch-Schoenlein purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme disease_progression ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15315169 RGD:11038920 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Agt angiotensinogen severity ISO DNA:missense mutation:cds:p.M235T (human)
DNA:missense mutation:cds:p.T174M (human)
RGD PMID:16521052, PMID:20702504 RGD:11039045, RGD:11039055 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1353212 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:snp:promoter:g.-2518C>T (human)
protein:increased expression:serum (human)
RGD PMID:26234573, PMID:25839768 RGD:11522500, RGD:11528567 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd86 CD86 molecule treatment ISO protein:increased expression:venous blood, B cell (human) RGD PMID:27030970 RGD:11354986 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:9186886 RGD:6909151 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:16787590 RGD:11354946 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Kng2 kininogen 2 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Mefv MEFV innate immuity regulator, pyrin susceptibility ISO DNA:mutations:exons:
DNA:mutations:cds:
DNA:mutation:exon:p. E148Q (human)
RGD PMID:22451026, PMID:25232290, PMID:20602240 RGD:7349346, RGD:11531116, RGD:7349347 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:9543574 RGD:11541055 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9002298 PMID:12671112 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:19967651 RGD:11552576 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human) RGD PMID:11836690 RGD:5147830 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
hypersensitivity reaction type III disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qa complement C1q A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:8840296 NCBI chr 5:155,261,254...155,264,101
Ensembl chr 5:155,261,250...155,264,143
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:1825860 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Masp2 mannan-binding lectin serine peptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904520 NCBI chr 5:165,415,105...165,429,857
Ensembl chr 5:165,415,136...165,430,054
JBrowse link
pulmonary sarcoidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase severity ISO RGD PMID:9036208 RGD:5128833 NCBI chr 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
JBrowse link
G Ada adenosine deaminase ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:10410539 RGD:5128856 NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:16315781 RGD:4891110 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G C3 complement C3 ISO protein:altered expression:lung RGD PMID:18069416 RGD:5129502 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO mRNA, protein:increased expression:lung RGD PMID:12626344 RGD:5130912 NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:lung:bronchoalveolar lavage cell (human) RGD PMID:10384061 RGD:4891436 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 disease_progression ISO protein:altered expression:lung, lymphocyte, macrophage (human)
DNA:polymorphisms:5' utr:multiple (human)
RGD PMID:11790661, PMID:19679608 RGD:4892099, RGD:4892066 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO mRNA:increased expression:lung RGD PMID:12626344 RGD:5130912 NCBI chr10:87,057,335...87,067,444
Ensembl chr10:87,057,136...87,067,456
JBrowse link
G Cftr CF transmembrane conductance regulator ISO DNA:mutations:whole blood : RGD PMID:20722470 RGD:4139905 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:15763444 RGD:4892634 NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
JBrowse link
G Crp C-reactive protein severity ISO RGD PMID:21086905 RGD:5131289 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:17550373, PMID:9834133 RGD:5135438, RGD:5135492 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl11 C-X-C motif chemokine ligand 11 ISO protein:increased expression:serum RGD PMID:17550373 RGD:5135438 NCBI chr14:17,195,395...17,198,170
Ensembl chr14:17,195,014...17,198,291
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 disease_progression ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:17052298 RGD:5135244 NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum, respiratory system fluid/secretion RGD PMID:17550373 RGD:5135438 NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO protein:increased expression:respiratory system fluid/secretion, T cell RGD PMID:9834133 RGD:5135492 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G Cyba cytochrome b-245 alpha chain no_association ISO DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) RGD PMID:16608528 RGD:4780358 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Defb1 defensin beta 1 ISO protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr16:75,294,385...75,309,127
Ensembl chr16:75,294,376...75,309,176
JBrowse link
G Defb4 defensin beta 4 ISO protein:increased expression:serum RGD PMID:17000097 RGD:4892262 NCBI chr16:75,634,598...75,637,789
Ensembl chr16:75,634,598...75,637,789
JBrowse link
G Egr1 early growth response 1 ISO protein:increased expression:lung (human) RGD PMID:16933469 RGD:5131899 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased activity:sputum RGD PMID:19453654 RGD:4145349 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Il15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum
protein:increased expression:bronchoalveolar lavage fluid
RGD PMID:11174201, PMID:16734560 RGD:4889863, RGD:4889823 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il18r1 interleukin 18 receptor 1 severity ISO RGD PMID:14641797 RGD:5024944 NCBI chr 9:47,184,404...47,217,403
Ensembl chr 9:47,185,443...47,219,175
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:8239179 RGD:4143198 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:SNP:intron: RGD PMID:15713215 RGD:4143248 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:serum RGD PMID:14665489 RGD:5131177 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:16315781, PMID:21059230 RGD:4891110, RGD:5144061 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 disease_progression ISO DNA:polymorphism:exon:2104C>T (human) RGD PMID:19679608 RGD:4892066 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:lung RGD PMID:11789718 RGD:4891449 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO protein:increased expression:lung RGD PMID:2255800 RGD:4892566 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Ntf3 neurotrophin 3 disease_progression ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:16315781, PMID:21059230 RGD:4891110, RGD:5144061 NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO protein:increased expression: : RGD PMID:16315781 RGD:4891110 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 severity ISO DNA:polymorphism:cds:DRB1*03 (human) RGD PMID:15881283 RGD:40818305 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:10543276 RGD:4143437 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Tgfb1 transforming growth factor, beta 1 severity ISO DNA:polymorphisms: :-509C>T (human) RGD PMID:17785866 RGD:4145294 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:decreased expression:alveolar macrophage RGD PMID:20813038, PMID:23668840 RGD:4145301, RGD:8553184 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tnc tenascin C ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:9780295 RGD:4889595 NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism:promoter RGD PMID:20070603, PMID:15653992 RGD:4143236, RGD:4143466 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO protein:increased expression:serum (human) RGD PMID:21508170 RGD:5131275 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:20442436 RGD:5685623 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
JBrowse link
sarcoidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme severity
disease_progression
ISO DNA:SNP:enhancer:
DNA:SNP, insertion/deletion, repeat:enhancer, intron 16, 3' utr:
DNA:insertion/deletion:intron 16:
protein:increased activity:serum (human)
GAD
RGD
PMID:15118671, PMID:29229112, PMID:11168787, PMID:18496980, PMID:183595, PMID:6287584 RGD:1331525, RGD:40400908, RGD:40400746, RGD:40400722, RGD:40400721, RGD:11039025 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Agtr1a angiotensin II receptor, type 1a no_association ISO DNA:polymorphism: :1166A>C (human) RGD PMID:21319597, PMID:20560294 RGD:5129164, RGD:5129165 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Anxa11 annexin A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165924 NCBI chr16:3,867,193...3,912,043
Ensembl chr16:3,867,208...3,912,148
JBrowse link
G Btnl2 butyrophilin-like 2 susceptibility ISO ClinVar Annotator: match by OMIM:612387
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs2076530(human)
ClinVar
CTD
OMIM
PMID:15735647, PMID:22991420 RGD:7365045 NCBI chr20:4,140,184...4,156,365
Ensembl chr20:4,141,878...4,154,978
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO protein:increased expression:serum RGD PMID:17949965 RGD:4145494 NCBI chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:18513341 RGD:4144898
G Ccr5 C-C motif chemokine receptor 5 ISO Lofgren Syndrome; DNA:polymorphisms:5' utr:multiple (human) RGD PMID:18311470 RGD:4892086 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd14 CD14 molecule susceptibility ISO DNA:polymorphism:promoter:c. -159C>T (human)|protein:increased expression:serum RGD PMID:20430603, PMID:20430603 RGD:4144780, RGD:4144780 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA:increased expression:skin: RGD PMID:12885947 RGD:8662819 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cfh complement factor H susceptibility ISO DNA:SNP:cds:p.Y402H(human) RGD PMID:23497844 RGD:7365014 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Cma1 chymase 1 ISO DNA:snp:5' utr:g.-526C>T (human) RGD PMID:16446531 RGD:5128561 NCBI chr15:34,601,037...34,603,819
Ensembl chr15:34,601,037...34,603,819
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO DNA:polymorphism:exon (human) RGD PMID:14620161 RGD:4891520 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Hp haptoglobin ISO RGD PMID:17446058 RGD:5147442 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Il18 interleukin 18 disease_progression ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD PMID:16100009, PMID:17015003 RGD:4889815 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNPs:introns,exon:rs7517847,rs11465804,rs11209026(human) RGD PMID:21846945 RGD:8549545 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 susceptibility ISO DNA:SNP: :8473 T > C (human)
protein:decreased expression:lung:
RGD PMID:19042116, PMID:14511257 RGD:5135505, RGD:5135507 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms: :HLA-DQBl*O603, DQB1*0604(human) RGD PMID:9659531 RGD:36174017 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility ISO DNA:polymorphisms:cds:HLA-B-7, HLA-B-8 (human) RGD PMID:23808178 RGD:7364872
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: : HLA-DRB1*08:03(human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :multiple alleles
OMIM
CTD
PMID:14508706, PMID:22991420, PMID:14508706 RGD:7365045, RGD:7365081 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Sftpd surfactant protein D ISO associated with Uveitis;protein:increased expression:serum RGD PMID:20151281 RGD:4143491 NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:repeat, SNP:promoter, intron (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16597321, PMID:22160516 RGD:5684925 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10673208 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:17785866 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
Schnitzler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO RGD PMID:1831824 RGD:7794711 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO CTD Direct Evidence: therapeutic CTD PMID:16096327, PMID:16096327 RGD:11522758 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
Serum Sickness 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:350256 PMID:9380243 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
type I complement component 8 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C8a complement C8 alpha chain ISO ClinVar Annotator: match by term: C8AG DEFICIENCY
ClinVar Annotator: match by term: COMPLEMENT COMPONENT 8, ALPHA SUBUNIT, A/B POLYMORPHISM
ClinVar Annotator: match by OMIM:613790
OMIM
ClinVar
PMID:7649542 PMID:9759902 PMID:24033266 PMID:25741868 NCBI chr 5:124,348,536...124,403,117
Ensembl chr 5:124,348,461...124,403,195
JBrowse link
type II complement component 8 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C8b complement C8 beta chain ISO ClinVar Annotator: match by term: Type II complement component 8 deficiency
ClinVar Annotator: match by term: COMPLEMENT COMPONENT 8B DEFICIENCY
ClinVar Annotator: match by OMIM:613789
OMIM
ClinVar
PMID:7594510 PMID:8098723 PMID:14767900 PMID:19434484 PMID:24033266 PMID:25741868 NCBI chr 5:124,298,269...124,338,055
Ensembl chr 5:124,300,477...124,338,053
JBrowse link
uveoparotid fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human) RGD PMID:21565911 RGD:5147562 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      immune system disease 2931
        hypersensitivity reaction disease 108
          hypersensitivity reaction type III disease + 26
          hypersensitivity reaction type IV disease + 87
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Immune & Inflammatory Diseases 3518
        immune system disease 2931
          hypersensitivity reaction disease 108
            hypersensitivity reaction type III disease + 26
            hypersensitivity reaction type IV disease + 87
paths to the root