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.
Term: Rupture
Accession: DOID:9005630
browse the term
Definition: Forcible or traumatic tear or break of an organ or other soft part of the body.
Synonyms: exact_synonym: Ruptures
primary_id: MESH:D012421
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Atp7a
ATPase, Cu++ transporting, alpha polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2346371 PMID:25449986
NCBI chr X:105,070,830...105,171,766
Ensembl chr X:105,070,882...105,168,532
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Edn2
endothelin 2
ISO
RGD
PMID:11947982
RGD:1580915
NCBI chr 4:120,018,403...120,024,557
Ensembl chr 4:120,018,403...120,024,557
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Fbn1
fibrillin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18178469
NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18178469
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18178469
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Npr1
natriuretic peptide receptor 1
IMP
associated with Hypertension
RGD
PMID:9405681
RGD:737701
NCBI chr 3:90,357,898...90,373,235
Ensembl chr 3:90,357,898...90,373,173
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Vkorc1
vitamin K epoxide reductase complex, subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16549638
NCBI chr 7:127,492,235...127,494,833
Ensembl chr 7:127,485,399...127,494,626 Ensembl chr 7:127,485,399...127,494,626
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Ngf
nerve growth factor
ISO
mRNA,protein:increased expression:rotator cuff
RGD
PMID:30146165
RGD:402463951
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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Trem1
triggering receptor expressed on myeloid cells 1
ISO
protein:increased expression:tendon:
RGD
PMID:29891998
RGD:127284862
NCBI chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952
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