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 9:49,746,749...49,758,317
Ensembl chr 9:49,748,693...49,758,479
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ADIPOQ
adiponectin, C1Q and collagen domain containing
severity
ISO
protein:increased expression:serum
RGD
PMID:21258011
RGD:5686893
NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
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APOA4
apolipoprotein A4
ISO
protein:increased expression:blood serum (human)
RGD
PMID:19379511
RGD:5685691
NCBI chr 5:16,751,588...16,754,215
Ensembl chr 5:16,751,799...16,754,837
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CCL8
C-C motif chemokine ligand 8
ISO
RGD
PMID:19571824
RGD:4892067
NCBI chr 9:38,949,184...38,950,702
Ensembl chr 9:38,948,184...38,950,803
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CCR1
chemokine (C-C motif) receptor 1
severity
ISO
RGD
PMID:17641205
RGD:5688177
NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
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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 chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
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CD40
CD40 molecule
treatment
ISO
RGD
PMID:18981161
RGD:7248735
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
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CD40LG
CD40 ligand
ISO
RGD
PMID:12970789
RGD:11352269
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
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CTLA4
cytotoxic T-lymphocyte associated protein 4
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:7515723 PMID:14642129
RGD:11344912
NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
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CX3CR1
C-X3-C motif chemokine receptor 1
severity
ISO
RGD
PMID:17264819
RGD:4892014
NCBI chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808
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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 chr32:598,406...599,925
Ensembl chr32:597,987...599,979
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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 chr32:631,084...636,997
Ensembl chr32:631,478...632,868 Ensembl chr32:631,478...632,868
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CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:19218194
RGD:5135435
NCBI chr X:55,882,433...55,884,582
Ensembl chr X:55,882,433...55,884,582
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F3
coagulation factor III, tissue factor
treatment
ISO
RGD
PMID:20037809
RGD:11340209
NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607
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FAS
Fas cell surface death receptor
ISO
RGD
PMID:9404931
RGD:11049160
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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FASLG
Fas ligand
ISO
mRNA,protein:increased expression:liver:
RGD
PMID:9404931 PMID:10452880
RGD:11049160 RGD:14700681
NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
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FOXP3
forkhead box P3
treatment
ISO
RGD
PMID:22344929
RGD:38599140
NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758
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HGF
hepatocyte growth factor
treatment
ISO
RGD
PMID:11390418
RGD:8548544
NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
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HSP70
heat shock protein 70
severity
ISO
mRNA:increased expression:skin
RGD
PMID:18580475
RGD:8662845
NCBI chr12:1,285,282...1,287,670
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HSPA8
heat shock protein family A (Hsp70) member 8
ISO
RGD
PMID:9557158
RGD:7242787
NCBI chr 5:11,292,219...11,296,851
Ensembl chr 5:11,292,262...11,296,797
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ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:liver,bile duct:
RGD
PMID:10051478
RGD:11520783
NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
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IFNG
interferon gamma
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:repeats:intron: associated with Cytomegalovirus Infections; DNA:repeats:intron:
CTD RGD
PMID:16409297 PMID:19747638 PMID:22077062
RGD:10755684 RGD:10755687
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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IL10
interleukin 10
no_association severity disease_progression treatment susceptibility
ISO
DNA:polymorphisms DNA:repeat:promoter DNA:SNP: :rs1800872 (human) ClinVar Annotator: match by term: Graft-versus-host disease, resistance to | ClinVar Annotator: match by term: Graft-versus-host disease, susceptibility to
RGD ClinVar OMIM
PMID:9808588 PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:19409109 PMID:20195716 PMID:25034146 PMID:25741868 PMID:28492532 More...
RGD:11041897 RGD:11046269 RGD:11049177 RGD:2316565
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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IL10RB
interleukin 10 receptor subunit beta
disease_progression
ISO
DNA:SNP: :rs28341676 (human)
RGD
PMID:19409109
RGD:11046269
NCBI chr31:28,791,541...28,815,163
Ensembl chr31:27,892,394...27,915,637
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IL17A
interleukin 17A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22077062
NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
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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 chr 7:6,000,994...6,006,959
Ensembl chr 7:6,000,907...6,006,870
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IL1A
interleukin 1 alpha
ISO
DNA:SNP:promoter:-889T>C (rs1800587) (human)
RGD
PMID:23645090
RGD:11049180
NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
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IL1RN
interleukin 1 receptor antagonist
ISO
RGD
PMID:8049450
RGD:6909143
NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
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IL2
interleukin 2
ISO
RGD
PMID:8704686 PMID:21734238
RGD:5147911 RGD:8662974
NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
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IL21R
interleukin 21 receptor
ISO
RGD
PMID:21596854
RGD:6892927
NCBI chr 6:19,181,846...19,217,915
Ensembl chr 6:19,182,071...19,217,931
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ITGA2
integrin subunit alpha 2
treatment
ISO
RGD
PMID:11489992
RGD:8693305
NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983
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JAK3
Janus kinase 3
treatment
ISO
RGD
PMID:11781254 PMID:12010825
RGD:11531124 RGD:1600262
NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805
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LOC478984
low affinity immunoglobulin gamma Fc region receptor III
ISO
DNA:polymorphism:cds:p. V158F(rs396991)(human)
RGD
PMID:20400988
RGD:11040884
NCBI chr38:21,054,870...21,060,948
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LOC480777
UDP-glucuronosyltransferase 2A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19935662
NCBI chr13:58,911,301...58,932,594
Ensembl chr13:59,138,348...59,222,802 Ensembl chr13:59,138,348...59,222,802
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LST1
leukocyte specific transcript 1
ISO
DNA:repeat:intron:IVS3dupGA (human)
RGD
PMID:9808588
RGD:2316565
NCBI chr12:1,084,739...1,086,182
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MKI67
marker of proliferation Ki-67
ISO
RGD
PMID:21440078
RGD:6483534
NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486
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MTHFR
methylenetetrahydrofolate reductase
treatment
ISO
DNA:transition:cds:g.677C>T (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16518429 PMID:19005482
RGD:6893635
NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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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 chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232
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PDGFB
platelet derived growth factor subunit B
ISO
RGD
PMID:21211989
RGD:6482796
NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
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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 chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778
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PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
RGD
PMID:21402770
RGD:6482681
NCBI chr18:13,576,966...13,611,748
Ensembl chr18:13,570,999...13,611,141
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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 chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
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SELL
selectin L
ISO
RGD
PMID:21635226
RGD:5685693
NCBI chr 7:28,906,752...28,927,959
Ensembl chr 7:28,906,809...29,094,008
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SERPINE1
serpin family E member 1
Treatment
ISO
RGD
PMID:26414805
RGD:11343779
NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
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TFPI
tissue factor pathway inhibitor
treatment
ISO
RGD
PMID:20037809
RGD:11340209
NCBI chr36:29,457,131...29,546,455
Ensembl chr36:29,459,371...29,511,310
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TNFRSF8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15322151
NCBI chr 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675
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TNFSF8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15322151
NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355
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TP53
tumor protein p53
ISO
protein:increased expression:epithelium
RGD
PMID:16393253
RGD:8547841
NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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VEGFA
vascular endothelial growth factor A
ISO
protein:decreased expression:serum:
RGD
PMID:25759146
RGD:11079181
NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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