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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Muc16
mucin 16, cell surface associated
ISO
mRNA:increased expression:conjunctival epithelial cell
RGD
PMID:18782111
RGD:7364735
NCBI chr 8:16,164,531...16,323,126
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
mRNA:decreased expression:conjunctival epithelial cell
RGD
PMID:18782111
RGD:7364735
NCBI chr 1:196,864,375...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Tlr2
toll-like receptor 2
ISO
protein:increased expression:conjnctival epithelium:
RGD
PMID:15875531
RGD:8552813
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Fam83h
family with sequence similarity 83, member H
ISO
Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis
OMIA
PMID:16961470 PMID:22212237 PMID:22253609 PMID:22339941 PMID:29284193 PMID:30650096 More...
NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
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Ccl20
C-C motif chemokine ligand 20
ISO
mRNA:increased expression:conjunctiva, cornea
RGD
PMID:20007286
RGD:7483613
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:16159632
RGD:8549757
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Il6
interleukin 6
ISO
associated with Sjogren's Syndrome;mRNA,protein:increased expression:conjunctiva:
RGD
PMID:10487957
RGD:7829756
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Muc4
mucin 4, cell surface associated
ISO
RGD
PMID:14507865
RGD:7349377
NCBI chr11:68,008,245...68,053,229
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
RGD
PMID:14507865
RGD:7349377
NCBI chr 1:196,864,375...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Nrtn
neurturin
ISO
RGD
PMID:14507865
RGD:7349377
NCBI chr 9:1,581,860...1,587,835
Ensembl chr 9:1,581,975...1,583,102
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Tnf
tumor necrosis factor
ISO
associated with Sjogren's Syndrome;mRNA:increased expression:conjunctiva:
RGD
PMID:10487957
RGD:7829756
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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