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 1:272,912,239...272,935,316
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ADIPOQ
adiponectin, C1Q and collagen domain containing
severity
ISO
protein:increased expression:serum
RGD
PMID:21258011
RGD:5686893
NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
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APOA4
apolipoprotein A4
ISO
protein:increased expression:blood serum (human)
RGD
PMID:19379511
RGD:5685691
NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206
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CCL8
chemokine (C-C motif) ligand 8
ISO
RGD
PMID:19571824
RGD:4892067
NCBI chr12:40,740,468...40,741,970
Ensembl chr12:40,740,023...40,742,022
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CCR1
C-C motif chemokine receptor 1
severity
ISO
RGD
PMID:17641205
RGD:5688177
NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960
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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 chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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CD40
CD40 molecule
treatment
ISO
RGD
PMID:18981161
RGD:7248735
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CD40LG
CD40 ligand
ISO
RGD
PMID:12970789
RGD:11352269
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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CTLA4
cytotoxic T-lymphocyte associated protein 4
treatment
ISO
CTD Direct Evidence: therapeutic
RGD CTD
PMID:7515723 PMID:14642129
RGD:11344912
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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CX3CR1
C-X3-C motif chemokine receptor 1
severity
ISO
RGD
PMID:17264819
RGD:4892014
NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486
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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 chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
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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 chr 8:71,713,790...71,725,669
Ensembl chr 8:71,713,803...71,725,674
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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 chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271
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CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:19218194
RGD:5135435
NCBI chr X:57,592,032...57,595,706
Ensembl chr X:57,592,038...57,595,692
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F3
coagulation factor III, tissue factor
treatment
ISO
RGD
PMID:20037809
RGD:11340209
NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666
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FAS
Fas cell surface death receptor
ISO
RGD
PMID:9404931
RGD:11049160
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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FASLG
Fas ligand
ISO
mRNA,protein:increased expression:liver:
RGD
PMID:9404931 PMID:10452880
RGD:11049160 RGD:14700681
NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
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FCGR3A
Fc fragment of IgG receptor IIIa
ISO
DNA:polymorphism:cds:p. V158F(rs396991)(human)
RGD
PMID:20400988
RGD:11040884
NCBI chr 4:88,948,357...88,956,513
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FOXP3
forkhead box P3
treatment
ISO
RGD
PMID:22344929
RGD:38599140
NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
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HGF
hepatocyte growth factor
treatment
ISO
RGD
PMID:11390418
RGD:8548544
NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564
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HSPA8
heat shock protein family A (Hsp70) member 8
ISO
RGD
PMID:9557158
RGD:7242787
NCBI chr 9:49,982,278...49,986,760
Ensembl chr 9:49,982,284...49,990,508
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ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:liver,bile duct:
RGD
PMID:10051478
RGD:11520783
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IFNG
interferon gamma
susceptibility
ISO
associated with Cytomegalovirus Infections; DNA:repeats:intron: CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16409297 PMID:19747638 PMID:22077062
RGD:10755684 RGD:10755687
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IL10
interleukin 10
severity no_association treatment disease_progression
ISO
DNA:repeat:promoter DNA:polymorphisms 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 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL10RB
interleukin 10 receptor subunit beta
disease_progression
ISO
DNA:SNP: :rs28341676 (human)
RGD
PMID:19409109
RGD:11046269
NCBI chr13:196,853,606...196,884,237
Ensembl chr13:196,853,467...196,884,928
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IL17A
interleukin 17A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22077062
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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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 9:67,469,519...67,479,597
Ensembl chr 9:67,469,524...67,479,813
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IL1A
interleukin 1 alpha
ISO
DNA:SNP:promoter:-889T>C (rs1800587) (human)
RGD
PMID:23645090
RGD:11049180
NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,121
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IL1RN
interleukin 1 receptor antagonist
ISO
RGD
PMID:8049450
RGD:6909143
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IL2
interleukin 2
ISO
RGD
PMID:8704686 PMID:21734238
RGD:5147911 RGD:8662974
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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IL21R
interleukin 21 receptor
ISO
RGD
PMID:21596854
RGD:6892927
NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152
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ITGA2
integrin subunit alpha 2
treatment
ISO
RGD
PMID:11489992
RGD:8693305
NCBI chr16:32,336,240...32,440,311
Ensembl chr16:32,336,292...32,437,103
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JAK3
Janus kinase 3
treatment
ISO
RGD
PMID:11781254 PMID:12010825
RGD:11531124 RGD:1600262
NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495
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LST1
leukocyte specific transcript 1
ISO
DNA:repeat:intron:IVS3dupGA (human)
RGD
PMID:9808588
RGD:2316565
NCBI chr 7:23,705,491...23,712,987
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MKI67
marker of proliferation Ki-67
ISO
RGD
PMID:21440078
RGD:6483534
NCBI chr14:137,266,622...137,296,312
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MTHFR
methylenetetrahydrofolate reductase
treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:transition:cds:g.677C>T (human)
CTD RGD
PMID:16518429 PMID:19005482
RGD:6893635
NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
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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 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
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PDGFB
platelet derived growth factor subunit B
ISO
RGD
PMID:21211989
RGD:6482796
Ensembl chr 5:8,986,462...9,007,435
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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 chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293
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PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
RGD
PMID:21402770
RGD:6482681
NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
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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 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
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SELL
selectin L
ISO
RGD
PMID:21635226
RGD:5685693
NCBI chr 4:81,306,363...81,325,296
Ensembl chr 4:81,306,353...81,326,444
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SERPINE1
serpin family E member 1
Treatment
ISO
RGD
PMID:26414805
RGD:11343779
NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
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TFPI
tissue factor pathway inhibitor
treatment
ISO
RGD
PMID:20037809
RGD:11340209
NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
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TNFRSF8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15322151
NCBI chr 6:72,103,309...72,174,882
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TNFSF8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15322151
NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
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TP53
tumor protein p53
ISO
protein:increased expression:epithelium
RGD
PMID:16393253
RGD:8547841
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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VEGFA
vascular endothelial growth factor A
ISO
protein:decreased expression:serum:
RGD
PMID:25759146
RGD:11079181
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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