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.
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A2m
alpha-2-macroglobulin
IEP
RGD
PMID:17722867
RGD:10046041
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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Ada
adenosine deaminase
IEP
RGD
PMID:20809996
RGD:5128861
NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:152,398,747...152,447,088
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Bche
butyrylcholinesterase
IEP
protein:decreased expression:plasma
RGD
PMID:20138875
RGD:5687328
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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Cd1d1
CD1d1 molecule
exacerbates
ISO
RGD
PMID:15731095
RGD:127345115
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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Hp
haptoglobin
ISO
protein:increased expression:plasma
RGD
PMID:19567273
RGD:11041867
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Il4
interleukin 4
treatment
IEP
RGD
PMID:24731531
RGD:10402804
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Prf1
perforin 1
ISO
RGD
PMID:19651871
RGD:6482814
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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Tlr9
toll-like receptor 9
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:18565585
RGD:18337478
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Il10
interleukin 10
treatment
IDA
RGD
PMID:24055715
RGD:7364866
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:28356392
RGD:39457935
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Mbl2
mannose binding lectin 2
severity
ISO
RGD
PMID:26745156
RGD:11076757
NCBI chr 1:228,016,439...228,024,736
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Pcna
proliferating cell nuclear antigen
IEP
protein:increased expression:myocardium:
RGD
PMID:12435130
RGD:10448990
NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
disease_progression
ISO
mRNA:increased expression:heart (mouse) mRNA:increased expression:heart (human)
RGD
PMID:29666415 PMID:29666415 PMID:29666415
RGD:38599151 , RGD:38599151 , RGD:38599151
NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:48,766,864...48,802,043
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism:exon (human)
RGD
PMID:19811437
RGD:5147589
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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Ccl2
C-C motif chemokine ligand 2
IEP
RGD
PMID:16844401
RGD:2307145
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl3
C-C motif chemokine ligand 3
IEP
RGD
PMID:16844401
RGD:2307145
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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Ccl5
C-C motif chemokine ligand 5
IMP
RGD
PMID:20452453
RGD:4889906
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Chrm2
cholinergic receptor, muscarinic 2
ISO
RGD
PMID:9148906
RGD:5509585
NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
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F2
coagulation factor II, thrombin
ISO
protein:increased expression:blood plasma (human)
RGD
PMID:20699256 PMID:21866301
RGD:5147778 , RGD:40818435
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Hspa4
heat shock protein family A (Hsp70) member 4
ISO
RGD
PMID:21801456
RGD:6218957
NCBI chr10:37,908,866...37,951,994
Ensembl chr10:37,408,025...37,449,001
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Ifng
interferon gamma
IDA
RGD
PMID:10684988
RGD:10755744
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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Il23a
interleukin 23 subunit alpha
susceptibility
ISO
RGD
PMID:23182712
RGD:39457956
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Prg2
proteoglycan 2, pro eosinophil major basic protein
ISO
mRNA:increased expression:plancenta (human)
RGD
PMID:29545200
RGD:40902989
NCBI chr 3:70,062,535...70,066,102
Ensembl chr 3:70,062,535...70,066,101
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphisms:exon (human)
RGD
PMID:19811437
RGD:5147589
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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Soat1
sterol O-acyltransferase 1
ameliorates
ISO
DNA:SNP:exon: rs1044925 (human)
RGD
PMID:31236660
RGD:126925205
NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
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Vim
vimentin
severity
IEP ISO
protein:increased expression:plasma
RGD
PMID:22199233 PMID:22199233
RGD:6480538 , RGD:6480538
NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
IEP
RGD
PMID:25595977
RGD:405650615
NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:105,121,170...105,124,036
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Hcrt
hypocretin neuropeptide precursor
IEP
RGD
PMID:25595977
RGD:405650615
NCBI chr10:85,689,979...85,691,214
Ensembl chr10:85,689,465...85,691,210
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Nos2
nitric oxide synthase 2
IEP
protein:altered activity:brain, peritoneal macrophage
RGD
PMID:20169057
RGD:4891375
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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Pmch
pro-melanin-concentrating hormone
IEP
RGD
PMID:25595977
RGD:405650615
NCBI chr 7:22,511,934...22,513,250
Ensembl chr 7:22,511,934...22,513,250
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Tslp
thymic stromal lymphopoietin
susceptibility
ISO
protein:increased expression:serum (mouse)
RGD
PMID:28769924
RGD:38549587
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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