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.
G
Tlr4
toll-like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:5108595 PMID:5109917 PMID:5536438
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10888991
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Cd274
CD274 molecule
ISO
RGD
PMID:23230000
RGD:41410802
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Clec12a
C-type lectin domain family 12, member A
disease_progression
ISO
RGD
PMID:31451663
RGD:41412202
NCBI chr 4:162,798,125...162,816,757
Ensembl chr 4:162,798,125...162,816,753
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Ifnar1
interferon alpha and beta receptor subunit 1
disease_progression
ISO
DNA:mutation: :
RGD
PMID:28878077 PMID:24760883
RGD:124715467 , RGD:124715479
NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
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Ifngr1
interferon gamma receptor 1
ameliorates
ISO
RGD
PMID:22496215
RGD:124715469
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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Il1rl1
interleukin 1 receptor-like 1
severity
ISO
RGD
PMID:25829541
RGD:40400708
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:19478140
RGD:6892934
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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Irf7
interferon regulatory factor 7
disease_progression
ISO
RGD
PMID:24760883 PMID:24760883
RGD:124715479 , RGD:124715479
NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832
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Irf9
interferon regulatory factor 9
disease_progression ameliorates
ISO
DNA:mutation: :
RGD
PMID:28878077 PMID:24760883 PMID:22496215
RGD:124715467 , RGD:124715479 , RGD:124715469
NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
RGD
PMID:30995287
RGD:40818298
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Nfkb1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:20565293
RGD:40902858
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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Nfkb2
nuclear factor kappa B subunit 2
disease_progression
ISO
RGD
PMID:20565293
RGD:40902858
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
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Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:30726291 PMID:23230000
RGD:40818232 , RGD:41410802
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Stat1
signal transducer and activator of transcription 1
exacerbates
ISO
RGD
PMID:22496215
RGD:124715469
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Stat2
signal transducer and activator of transcription 2
ISO
RGD
PMID:32094187 PMID:24760883
RGD:42722006 , RGD:124715479
NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
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Was
WASP actin nucleation promoting factor
ISO
RGD
PMID:23141740
RGD:38676258
NCBI chr X:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849
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