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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Aldh2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26711020
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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Foxo4
forkhead box O4
IEP
protein:increased phosphorylation:small intestine:
RGD
PMID:23292333
RGD:10402360
NCBI chr X:66,385,241...66,392,115
Ensembl chr X:66,385,558...66,392,115
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Gsr
glutathione-disulfide reductase
treatment
IEP
RGD
PMID:24972622
RGD:10401897
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Ank3
ankyrin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29109170
NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300
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Apoe
apolipoprotein E
ISO
RGD
PMID:15007105
RGD:12904641
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Bpifa1
BPI fold containing family A, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15513904
NCBI chr 3:142,627,810...142,633,553
Ensembl chr 3:142,627,810...142,633,552
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Cat
catalase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26074427
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Grin2b
glutamate ionotropic receptor NMDA type subunit 2B
treatment
IMP IEP
RGD
PMID:22037411 PMID:23763370
RGD:13210751 , RGD:13432044
NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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Igf1
insulin-like growth factor 1
IEP
mRNA:decreased expression:cerebellum (rat)
RGD
PMID:16909201
RGD:12904886
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igf1r
insulin-like growth factor 1 receptor
IEP
protein:decreased activity:cerebellum (rat)
RGD
PMID:16909201
RGD:12904886
NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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Nos1
nitric oxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25511929
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Pten
phosphatase and tensin homolog
IEP
Protein:increased expression, increased activity:cerebellum (rat)
RGD
PMID:12700235
RGD:12801493
NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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Rps6ka1
ribosomal protein S6 kinase A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29109170
NCBI chr 5:146,079,018...146,118,272
Ensembl chr 5:146,079,021...146,118,272
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Rhoa
ras homolog family member A
IEP
protein:increased activation:neuron, cerebellum
RGD
PMID:17109064
RGD:2298867
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all