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: Aortic Calcification
Accession: DOID:9000815
browse the term
Definition: Calcification of the aorta involves early deposition of calcium in the formation of an atherosclerotic plaque.
Synonyms: exact_synonym: aorta calcification; aortic artery calcification
narrow_synonym: abdominal aortic artery calcification; abdominal aortic calcification; thoracic aortic artery calcification; thoracic aortic calcification
related_synonym: AAC
xref: EFO:0004859 ; EFO:0010274
G
Ager
advanced glycosylation end product-specific receptor
IEP
associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat)
RGD
PMID:23497312
RGD:7244260
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
G
Agt
angiotensinogen
IDA
RGD
PMID:23291307
RGD:8549476
NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
G
Atp5f1d
ATP synthase F1 subunit delta
treatment
IEP
associated with Hypercholesterolemia
RGD
PMID:26047104
RGD:11057945
NCBI chr 7:10,211,260...10,218,989
Ensembl chr 7:9,560,608...9,565,929
G
Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
RGD
PMID:15625282
RGD:13204716
NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:20,698,764...20,763,715
G
Grp
gastrin releasing peptide
treatment
ISO
associated with chronic kidney disease
RGD
PMID:32192106
RGD:329961569
NCBI chr18:59,388,679...59,402,061
Ensembl chr18:59,388,274...59,402,061
G
Gsn
gelsolin
disease_progression
ISO
protein:decreased expression:blood (human)
RGD
PMID:26941566
RGD:329336117
NCBI chr 3:38,982,605...39,035,849
Ensembl chr 3:18,585,172...18,638,402
G
Sod1
superoxide dismutase 1
IEP
associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta
RGD
PMID:25430697
RGD:11038653
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249
G
Sod2
superoxide dismutase 2
IEP
associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta
RGD
PMID:25430697
RGD:11038653
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
G
Vkorc1
vitamin K epoxide reductase complex, subunit 1
susceptibility
IAGP
DNA:missense mutation: :p.Y139C (416A>G) (rat)
RGD
PMID:19884975
RGD:2315841
NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008
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