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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
 xref: GARD:12357;   MIM:615934;   MONDO:0014405;   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 chr18:26,455,824...26,504,106
Ensembl chr18:26,455,512...26,504,006 		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 chr18:26,511,019...26,534,872
Ensembl chr18:26,510,355...26,532,646 		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 chr18:26,608,483...26,630,292
Ensembl chr18:26,609,959...26,630,292 		JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,999,820...27,135,007 		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 chr18:27,543,438...27,577,535
Ensembl chr18:27,543,438...27,577,535 		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 chr18:27,583,791...27,593,184
Ensembl chr18:27,583,195...27,593,195 		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 chr18:26,737,078...26,740,877
Ensembl chr18:26,736,838...26,740,843 		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 chr18:26,776,518...26,804,857
Ensembl chr18:26,777,858...26,804,613 		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 chr18:26,314,440...26,395,260
Ensembl chr18:26,314,440...26,380,732 		JBrowse link
G Fam53c family with sequence similarity 53, member C ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:26,638,781...26,652,294
Ensembl chr18:26,638,062...26,652,290 		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 chr18:26,571,952...26,600,225
Ensembl chr18:26,571,921...26,600,225 		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 chr17:6,513,129...6,515,786
Ensembl chr17:6,512,629...6,516,127 		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 chr18:26,810,004...26,832,958
Ensembl chr18:26,804,774...26,828,398 		JBrowse link
G Kdm3b lysine demethylase 3B ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:26,655,004...26,710,814
Ensembl chr18:26,655,687...26,710,814 		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 chr18:26,504,422...26,512,908
Ensembl chr18:26,504,072...26,512,909 		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 chr17:6,528,114...6,651,338
Ensembl chr17:6,528,487...6,651,338 		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 chr18:27,091,919...27,096,967
Ensembl chr18:27,091,919...27,096,967 		JBrowse link
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:27,428,190...27,474,421
Ensembl chr18:27,432,179...27,470,421 		JBrowse link
G Myot myotilin ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:36,956,119...36,975,728
Ensembl chr18:36,956,191...36,976,265 		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 chr18:27,513,087...27,515,148
Ensembl chr18:27,513,089...27,515,182 		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 chr18:26,437,705...26,454,828
Ensembl chr18:26,437,781...26,454,828 		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 chr18:27,475,278...27,492,452
Ensembl chr 1:188,508,623...188,508,997
Ensembl chr18:188,508,623...188,508,997 		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 chr18:26,281,719...26,316,583
Ensembl chr18:26,281,941...26,316,583 		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 chr18:27,242,511...27,247,355
Ensembl chr18:27,516,332...27,523,808 		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 chr18:26,712,236...26,721,275
Ensembl chr18:26,712,426...26,721,278 		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 chr18:27,146,526...27,378,459
Ensembl chr18:27,146,527...27,307,693 		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 chr18:27,490,549...27,504,563
Ensembl chr18:27,490,374...27,504,702 		JBrowse link
G Spata24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:27,523,133...27,531,375
Ensembl chr18:27,522,344...27,531,147 		JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO
ISS 		OMIM:615934
ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy | ClinVar Annotator: match by term: Sting-associated vasculopathy, infantile-onset 		OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25029335 More... NCBI chr18:27,606,196...27,612,544
Ensembl chr18:27,606,196...27,611,947 		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 chr18:26,411,833...26,417,426
Ensembl chr18:26,411,833...26,417,426 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 0
      cardiovascular system disease 5558
        vascular disease 4039
          STING-associated vasculopathy with onset in infancy 30
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              Genetic Skin Diseases 1865
                Hereditary Autoinflammatory Diseases 365
                  STING-associated vasculopathy with onset in infancy 30
paths to the root