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: graft-versus-host disease
Accession: DOID:0081267
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Definition: An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32. (DO)
Synonyms: exact_synonym: GVHD; GVHDS; Graft vs Host Disease; Graft-Versus-Host Diseases; Graft-vs-Host Diseases; Homologous Wasting Disease; Runt Disease
related_synonym: PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM; graft-versus-host disease, resistance to; graft-versus-host disease, susceptibility to
primary_id: MESH:D006086
alt_id: DOID:9006073; MIM:614395
xref: ICD11:4B24; ORDO:39812
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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
ISO
RGD
PMID:3289150
RGD:11100006
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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Adipoq
adiponectin, C1Q and collagen domain containing
severity
ISO
protein:increased expression:serum
RGD
PMID:21258011
RGD:5686893
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Apoa4
apolipoprotein A4
ISO
protein:increased expression:blood serum (human)
RGD
PMID:19379511
RGD:5685691
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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Ccr1
C-C motif chemokine receptor 1
severity
ISO
RGD
PMID:17641205
RGD:5688177
NCBI chr 8:123,556,286...123,561,841
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Ccr5
C-C motif chemokine receptor 5
ISO
mRNA:increased expression:lung, liver, intestine (mouse)
RGD
PMID:19571824
RGD:4892067
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd40
CD40 molecule
treatment
ISO
RGD
PMID:18981161
RGD:7248735
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
ISO
RGD
PMID:12970789
RGD:11352269
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:14642129 PMID:7515723
RGD:11344912
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cx3cr1
C-X3-C motif chemokine receptor 1
severity
ISO
RGD
PMID:17264819
RGD:4892014
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
mRNA, protein:increased expression:intestine, liver, lung
RGD
PMID:19218194
RGD:5135435
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl11
C-X-C motif chemokine ligand 11
ISO
protein:increased expression:intestine, liver, lung
RGD
PMID:19218194
RGD:5135435
NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
mRNA, protein:increased expression:intestine, liver, lung
RGD
PMID:19218194
RGD:5135435
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:19218194
RGD:5135435
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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F3
coagulation factor III, tissue factor
treatment
ISO
RGD
PMID:20037809
RGD:11340209
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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Fas
Fas cell surface death receptor
ISO
RGD
PMID:9404931
RGD:11049160
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
ISO IEP
mRNA,protein:increased expression:liver:
RGD
PMID:9404931 PMID:10452880
RGD:11049160 , RGD:14700681
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fcgr3a
Fc gamma receptor 3A
ISO
DNA:polymorphism:cds:p. V158F(rs396991)(human)
RGD
PMID:20400988
RGD:11040884
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Foxp3
forkhead box P3
treatment
IEP
RGD
PMID:22344929
RGD:38599140
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
associated with Hemoglobinopathies;
RGD
PMID:20672371
RGD:10450879
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Hgf
hepatocyte growth factor
treatment
ISO
RGD
PMID:11390418
RGD:8548544
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Hspa1a
heat shock protein family A (Hsp70) member 1A
severity
IEP
mRNA:increased expression:skin
RGD
PMID:18580475
RGD:8662845
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
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Hspa1b
heat shock protein family A (Hsp70) member 1B
severity
IEP
mRNA:increased expression:skin
RGD
PMID:18580475
RGD:8662845
NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
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Hspa8
heat shock protein family A (Hsp70) member 8
IEP
RGD
PMID:9557158
RGD:7242787
NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:liver,bile duct:
RGD
PMID:10051478
RGD:11520783
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ifng
interferon gamma
susceptibility
ISO
DNA:repeats:intron: associated with Cytomegalovirus Infections; DNA:repeats:intron: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22077062 PMID:16409297 PMID:19747638
RGD:10755684 , RGD:10755687
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
treatment disease_progression no_association severity
ISO
DNA:SNP: :rs1800872 (human) DNA:polymorphisms DNA:repeat:promoter DNA:SNPs, haplotypes:promoter:-1082G>A (rs1800896), -819C>T (rs1800871), -592C>A (rs1800872) (human) protein:decreased expression:serum CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Graft-versus-host disease, resistance to | ClinVar Annotator: match by term: Graft-versus-host disease, susceptibility to
CTD ClinVar OMIM RGD
PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 PMID:25034146 PMID:19409109 PMID:7833486 PMID:20195716 PMID:9808588 PMID:23645090 PMID:16928315 More...
RGD:11041897 , RGD:11046269 , RGD:11049171 , RGD:11049177 , RGD:2316565 , RGD:11049180 , RGD:11049455
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il10rb
interleukin 10 receptor subunit beta
disease_progression
ISO
DNA:SNP: :rs28341676 (human)
RGD
PMID:19409109
RGD:11046269
NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074
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Il17a
interleukin 17A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22077062
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il19
interleukin 19
ISO
ClinVar Annotator: match by term: Graft-versus-host disease, resistance to | ClinVar Annotator: match by term: Graft-versus-host disease, susceptibility to
ClinVar
PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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Il1a
interleukin 1 alpha
ISO
DNA:SNP:promoter:-889T>C (rs1800587) (human)
RGD
PMID:23645090
RGD:11049180
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1rn
interleukin 1 receptor antagonist
ISO
RGD
PMID:8049450
RGD:6909143
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il2
interleukin 2
ISO
RGD
PMID:21734238 PMID:8704686
RGD:5147911 , RGD:8662974
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:21596854
RGD:6892927
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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Itga2
integrin subunit alpha 2
treatment
ISO
RGD
PMID:11489992
RGD:8693305
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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Jak3
Janus kinase 3
treatment
ISO IMP
RGD
PMID:12010825 PMID:11781254
RGD:11531124 , RGD:1600262
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Lst1
leukocyte specific transcript 1
ISO
DNA:repeat:intron:IVS3dupGA (human)
RGD
PMID:9808588
RGD:2316565
NCBI chr20:3,634,680...3,639,731
Ensembl chr20:3,634,749...3,637,997
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Mir146a
microRNA 146a
ameliorates
ISO
RGD
PMID:28853768
RGD:126925178
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Mki67
marker of proliferation Ki-67
ISO
RGD
PMID:21440078
RGD:6483534
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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Mthfr
methylenetetrahydrofolate reductase
treatment
ISO
DNA:transition:cds:g.677C>T (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16518429 PMID:19005482
RGD:6893635
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Nod2
nucleotide-binding oligomerization domain containing 2
severity
ISO
DNA:snps, insertion:exons:p.R675W, p.G1881R, c.2936_2937insC (human)
RGD
PMID:15090455
RGD:8158050
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Pdgfb
platelet derived growth factor subunit B
ISO
RGD
PMID:21211989
RGD:6482796
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
ClinVar Annotator: match by term: PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM
ClinVar
PMID:8532023
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
RGD
PMID:21402770
RGD:6482681
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
susceptibility
ISO
DNA:snp:promoter:g.-1123G>C (rs2488457) (human)
RGD
PMID:23025987
RGD:11534005
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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RT1-A1
RT1 class Ia, locus A1
IDA
RGD
PMID:11045643
RGD:2313505
NCBI chr20:4,905,309...4,914,593
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
severity
ISO
DNA:polymorphsims: :multiple (human)
RGD
PMID:12774051
RGD:150429809
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Sell
selectin L
ISO
RGD
PMID:21635226
RGD:5685693
NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
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Serpine1
serpin family E member 1
Treatment
ISO
RGD
PMID:26414805
RGD:11343779
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Tfpi
tissue factor pathway inhibitor
treatment
ISO
RGD
PMID:20037809
RGD:11340209
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15322151
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15322151
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Tp53
tumor protein p53
ISO
protein:increased expression:epithelium
RGD
PMID:16393253
RGD:8547841
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Ugt2b1
UDP glucuronosyltransferase 2 family, polypeptide B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19935662
NCBI chr14:21,024,035...21,035,784
Ensembl chr14:21,024,006...21,035,986
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Vegfa
vascular endothelial growth factor A
ISO
protein:decreased expression:serum:
RGD
PMID:25759146
RGD:11079181
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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