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 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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Aco1
aconitase 1
IDA
protein:increased activity:duodenal mucosa
RGD
PMID:19342511
RGD:11541091
NCBI chr 5:55,259,841...55,315,872
Ensembl chr 5:55,259,827...55,316,391
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Cftr
CF transmembrane conductance regulator
IDA
RGD
PMID:15905414
RGD:1599596
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Egr1
early growth response 1
ISO
RGD
PMID:24385009
RGD:8694318
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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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 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12481160 PMID:17045617
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Pla2g4a
phospholipase A2 group IVA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18451993
NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
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Psca
prostate stem cell antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22387998
NCBI chr 7:106,598,203...106,603,114
Ensembl chr 7:106,595,284...106,609,746
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12481160
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Slc11a2
solute carrier family 11 member 2
IEP
mRNA, protein:increased expression:duodenal mucosa
RGD
PMID:19342511
RGD:11541091
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
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Stat3
signal transducer and activator of transcription 3
IMP
RGD
PMID:24385009
RGD:8694318
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tfrc
transferrin receptor
IEP
protein:increased expression:duodenal mucosa
RGD
PMID:19342511
RGD:11541091
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12868675
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Vegfa
vascular endothelial growth factor A
IEP
associated with Candidiasis;protein:decreased expression:Duodenum:
RGD
PMID:18622701
RGD:7483560
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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