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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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22387998
NCBI chr 2:26,732,508...26,754,973
Ensembl chr 2:26,732,515...26,754,991
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Aco1
aconitase 1
ISO
protein:increased activity:duodenal mucosa
RGD
PMID:19342511
RGD:11541091
NCBI chr 4:40,143,429...40,199,011
Ensembl chr 4:40,143,081...40,198,338
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Cftr
cystic fibrosis transmembrane conductance regulator
ISO
RGD
PMID:15905414
RGD:1599596
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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Egr1
early growth response 1
IMP
RGD
PMID:24385009
RGD:8694318
NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037
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Il27
interleukin 27
ISO
associated with Helicobacter Infections;protein:increased expression:blood serum (human)
RGD
PMID:31702083
RGD:126790551
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Nos2
nitric oxide synthase 2, inducible
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12481160 PMID:17045617
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Pla2g4a
phospholipase A2, group IVA (cytosolic, calcium-dependent)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18451993
NCBI chr 1:149,705,369...149,837,041
Ensembl chr 1:149,705,369...149,837,041
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Psca
prostate stem cell antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22387998
NCBI chr15:74,586,688...74,588,914
Ensembl chr15:74,586,688...74,588,918
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12481160
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Slc11a2
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2
ISO
mRNA, protein:increased expression:duodenal mucosa
RGD
PMID:19342511
RGD:11541091
NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953
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Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:24385009
RGD:8694318
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Tfrc
transferrin receptor
ISO
protein:increased expression:duodenal mucosa
RGD
PMID:19342511
RGD:11541091
NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12868675
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Vegfa
vascular endothelial growth factor A
ISO
associated with Candidiasis;protein:decreased expression:Duodenum:
RGD
PMID:18622701
RGD:7483560
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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