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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:Vascular Calcification
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Accession:DOID:9006332 term browser browse the term
Definition:Deposition of calcium into the blood vessel structures. Excessive calcification of the vessels are associated with ATHEROSCLEROTIC PLAQUES formation particularly after MYOCARDIAL INFARCTION (see MONCKEBERG MEDIAL CALCIFIC SCLEROSIS) and chronic kidney diseases which in turn increase VASCULAR STIFFNESS.
Synonyms:exact_synonym: Vascular Calcifications;   Vascular Calcinoses;   Vascular Calcinosis
 primary_id: MESH:D061205;   RDO:0009968
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Vascular Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor disease_progression ISO associated with Renal Insufficiency, Chronic; protein:decreased expression:serum (human)
associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (mouse)
RGD PMID:21643645, PMID:22305260, PMID:21099228 RGD:7243940, RGD:7245562, RGD:7243959 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Cd40 CD40 molecule ISO associated with Coronary Artery Disease RGD PMID:16494885 RGD:7248436 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO associated with Coronary Artery Disease RGD PMID:16494885 RGD:7248436 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23223575 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Kl Klotho ISO RGD PMID:21115613 RGD:10403077 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Mgp matrix Gla protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21705322 NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO DNA:transition:cds:g.677C>T (human) RGD PMID:21394321 RGD:6893475 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO DNA:SNPs:cds, intron:multiple RGD PMID:22340269 RGD:6482770 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Pth parathyroid hormone disease_progression IDA
IEP
associated with Kidney Failure, Chronic
protein:increased expression:serum (rat)
RGD PMID:23486515, PMID:22634235 RGD:7242416, RGD:7242900 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
Aortic Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agt angiotensinogen IDA RGD PMID:23291307 RGD:8549476 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment IEP associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chr 7:12,426,807...12,432,120
Ensembl chr 7:12,426,809...12,432,130
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
G Sod1 superoxide dismutase 1 IEP associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 IEP associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
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 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302
JBrowse link
arterial calcification of infancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25758222 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO DNA:missense mutations:cds:p.G342V, p.Y371F (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.V246D (mouse)
DNA:mutations:multiple (human)
DNA:missense mutations, nonsense mutations, frameshift mutation:cds:multiple (human)
CTD PMID:15940697, PMID:23798568, PMID:20016754, PMID:12881724 RGD:1601044, RGD:13204734, RGD:6906932, RGD:731203 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
Generalized Arterial Calcification of Infancy, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 OMIM
ClinVar
PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:15677494 PMID:15940697 PMID:16025115 PMID:16315058 PMID:16607460 PMID:16609882 PMID:16968801 PMID:19206175 PMID:19229237 PMID:20016754 PMID:20137773 PMID:22209248 PMID:24033266 PMID:25326635 PMID:25741868 PMID:27467858 PMID:28492532 PMID:29141319 PMID:31444901 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
Generalized Arterial Calcification of Infancy, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Generalized arterial calcification of infancy 2
ClinVar Annotator: match by OMIM:614473
OMIM
ClinVar
PMID:10811882 PMID:11179012 PMID:11439001 PMID:11536079 PMID:12176944 PMID:12384774 PMID:12714611 PMID:16086317 PMID:16541094 PMID:16573612 PMID:17617515 PMID:18800149 PMID:20034067 PMID:22209248 PMID:24088041 PMID:25264593 PMID:25741868 PMID:26633545 PMID:28102862 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
Singleton Merten Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
Singleton-Merten Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 1 OMIM
ClinVar
PMID:21070929 PMID:24686847 PMID:24995871 PMID:25620204 PMID:25741868 PMID:28319323 PMID:28492532 PMID:29270977 PMID:30707351 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx58 DEXD/H-box helicase 58 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 2 ClinVar
OMIM
PMID:25620203 PMID:25741868 NCBI chr 5:56,486,584...56,536,898
Ensembl chr 5:56,500,734...56,536,772
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        mineral metabolism disease 436
          calcium metabolism disease 272
            calcinosis 241
              Vascular Calcification 19
                Aortic Calcification 8
                Monckeberg arteriosclerosis 0
                Singleton Merten Syndrome + 2
                arterial calcification of infancy + 2
Path 2
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        acquired metabolic disease 2753
          mineral metabolism disease 436
            calcium metabolism disease 272
              calcinosis 241
                Vascular Calcification 19
                  Aortic Calcification 8
                  Monckeberg arteriosclerosis 0
                  Singleton Merten Syndrome + 2
                  arterial calcification of infancy + 2
paths to the root