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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:STING-associated vasculopathy with onset in infancy
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Accession:DOID:0111457 term browser browse the term
Definition:An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31. (DO)
Synonyms:exact_synonym: SAVI;   STING-associated vasculopathy, infantile-onset
 primary_id: OMIM:615934
 xref: GARD:12357;   NCI:C177547;   ORDO:425120


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STING-associated vasculopathy with onset in infancy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRD8 bromodomain containing 8 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:25,793,375...25,825,868
Ensembl chr11:25,793,668...25,825,726 		JBrowse link
G CDC23 cell division cycle 23 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:25,834,752...25,851,588
Ensembl chr11:25,834,737...25,852,341 		JBrowse link
G CDC25C cell division cycle 25C ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:25,904,152...25,940,754
Ensembl chr11:25,904,144...25,935,744 		JBrowse link
G CTNNA1 catenin alpha 1 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091 		JBrowse link
G DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:34,730,877...34,762,234
Ensembl chr 2:34,733,250...34,762,276 		JBrowse link
G ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:34,763,814...34,773,491 JBrowse link
G EGR1 early growth response 1 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575 		JBrowse link
G ETF1 eukaryotic translation termination factor 1 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:26,078,611...26,110,805
Ensembl chr11:26,080,478...26,110,894 		JBrowse link
G FAM13B family with sequence similarity 13 member B ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:25,626,334...25,712,897
Ensembl chr11:25,628,536...25,708,365 		JBrowse link
G GFRA3 GDNF family receptor alpha 3 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:25,881,523...25,897,863
Ensembl chr11:25,882,099...25,897,817 		JBrowse link
G HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:25,464,601...25,467,460
Ensembl chr11:25,466,185...25,467,117 		JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:26,122,917...26,142,458
Ensembl chr11:26,121,499...26,142,434 		JBrowse link
G KDM3B lysine demethylase 3B ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:25,954,352...26,024,919
Ensembl chr11:25,943,864...26,023,866 		JBrowse link
G KIF20A kinesin family member 20A ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:25,826,140...25,834,220
Ensembl chr11:25,825,747...25,833,985 		JBrowse link
G KLHL3 kelch like family member 3 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:25,329,922...25,505,281
Ensembl chr11:25,334,241...25,443,494 		JBrowse link
G LRRTM2 leucine rich repeat transmembrane neuronal 2 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:26,392,642...26,397,018
Ensembl chr11:26,392,734...26,396,223 		JBrowse link
G MATR3 matrin 3 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:26,736,728...26,790,449
Ensembl chr11:26,758,261...26,790,449 		JBrowse link
G MYOT myotilin ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:25,574,087...25,592,767
Ensembl chr11:25,564,136...25,592,339 		JBrowse link
G MZB1 marginal zone B and B1 cell specific protein ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:34,710,487...34,712,660
Ensembl chr 2:34,706,007...34,712,626 		JBrowse link
G NME5 NME/NM23 family member 5 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:25,772,162...25,792,856
Ensembl chr11:25,772,157...25,792,176 		JBrowse link
G PAIP2 poly(A) binding protein interacting protein 2 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:34,671,130...34,695,974
Ensembl chr 2:34,671,150...34,695,299 		JBrowse link
G PKD2L2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:25,594,327...25,628,262
Ensembl chr11:25,594,394...25,628,509 		JBrowse link
G PROB1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:34,713,286...34,719,568
Ensembl chr 2:34,714,399...34,717,786 		JBrowse link
G REEP2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:26,026,715...26,032,489
Ensembl chr11:26,026,828...26,032,505 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:26,470,439...26,689,198
Ensembl chr11:26,470,487...26,731,294 		JBrowse link
G SLC23A1 solute carrier family 23 member 1 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:34,694,064...34,708,498
Ensembl chr 2:34,698,838...34,708,412 		JBrowse link
G SPATA24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:34,719,710...34,724,880
Ensembl chr 2:34,719,713...34,724,843 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy | ClinVar Annotator: match by term: Sting-associated vasculopathy, infantile-onset OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25029335 More... NCBI chr 2:34,783,947...34,792,204
Ensembl chr 2:34,784,232...34,789,072 		JBrowse link
G WNT8A Wnt family member 8A ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr11:25,707,058...25,752,724
Ensembl chr11:25,744,780...25,749,748 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      cardiovascular system disease 4407
        vascular disease 3103
          STING-associated vasculopathy with onset in infancy 29
Path 2
Term Annotations click to browse term
  disease 17773
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6589
            skin disease 3751
              Genetic Skin Diseases 1818
                Hereditary Autoinflammatory Diseases 340
                  STING-associated vasculopathy with onset in infancy 29
paths to the root