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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Ace2
angiotensin converting enzyme 2
susceptibility
ISO
DNA:SNP:intron 1: C>T
RGD
PMID:20117248
RGD:40818420
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Aqp4
aquaporin 4
disease_progression
ISO
protein:increased expression:astrocyte:
RGD
PMID:21904632
RGD:8698661
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Cast
calpastatin
ISO
protein:increased express:brain
RGD
PMID:16236382
RGD:5509817
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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Cd36
CD36 molecule
ISO
RGD
PMID:17367535
RGD:6893527
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Clec12a
C-type lectin domain family 12, member A
ameliorates
ISO
RGD
PMID:31269448
RGD:41412201
NCBI chr 4:162,798,125...162,816,757
Ensembl chr 4:162,798,125...162,816,753
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Il1rl1
interleukin 1 receptor-like 1
treatment
ISO
RGD
PMID:25682948
RGD:40400741
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il33
interleukin 33
treatment
ISO
protein:increased expression:brain
RGD
PMID:25659095 PMID:25682948
RGD:39938955 , RGD:40400741
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Jak3
Janus kinase 3
ISO
RGD
PMID:22363534
RGD:11531103
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Lta
lymphotoxin alpha
ISO
RGD
PMID:12021316
RGD:10449455
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Nrg1
neuregulin 1
treatment
ISO
mRNA, protein:increased expression:cerebral cortex (mouse) human protein in a mouse model
RGD
PMID:29636063 PMID:24433482
RGD:39456084 , RGD:39456102
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
RGD
PMID:25775137
RGD:38599200
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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Prkaa2
protein kinase AMP-activated catalytic subunit alpha 2
ISO
mRNA:decreased expression:brain (mouse)
RGD
PMID:29107705
RGD:39456137
NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
RGD
PMID:12228317
RGD:5131158
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all