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
Accession: DOID:9006332
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 .
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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
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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
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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
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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
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Kl
Klotho
ISO
RGD
PMID:21115613
RGD:10403077
NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
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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
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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
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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
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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
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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
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Agt
angiotensinogen
IDA
RGD
PMID:23291307
RGD:8549476
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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