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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:perivascular tumor
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Accession:DOID:3316 term browser browse the term
Synonyms:exact_synonym: malignant perivascular cancer
 xref: NCI:C6528;   NCI:C6530
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ogg1 8-oxoguanine DNA glycosylase no_association ISO associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney
associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human)
associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human)
RGD PMID:19265534 PMID:17932460 PMID:17932460 RGD:8657154, RGD:8657155, RGD:8657155 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr 9:49,419,561...49,459,969 JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tsc2 TSC complex subunit 2 ISO associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney RGD PMID:19265534 RGD:8657154 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
glomus tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glmn glomulin, FKBP associated protein ISO glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Glomus tumor ClinVar PMID:10657297 PMID:11156372 PMID:11526495 PMID:12007193 PMID:12111639 More... NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
JBrowse link
Glomus Vagale Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glmn glomulin, FKBP associated protein ISO ClinVar Annotator: match by OMIM:138000
ClinVar Annotator: match by term: Glomuvenous malformations
ClinVar
OMIM
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 More... NCBI chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420
JBrowse link
hepatic angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsc2 TSC complex subunit 2 IAGP DNA:mutations:multiple
associated with tuberous sclerosis;DNA:mutations:multiple
RGD PMID:29512829 PMID:22251200 RGD:21079730, RGD:21079732 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
kidney angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtor mechanistic target of rapamycin kinase treatment ISO associated with Tuberous Sclerosis RGD PMID:23054313 RGD:7245506 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
lymphangioleiomyomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 ISO RGD PMID:18285421 RGD:4892300 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr 6:131,983,056...132,005,359
Ensembl chr 6:131,983,056...132,005,818
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO RGD PMID:23035046 RGD:8693678 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum, plasma RGD PMID:18760908 RGD:5129697 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:lung RGD PMID:11306434 RGD:4892080 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Pkm pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32078667 NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599
JBrowse link
G Srf serum response factor ISO RGD PMID:12654640 RGD:1580753 NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr 9:49,419,561...49,459,969 JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Lymphangiomyomatosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:606690
OMIM
ClinVar
CTD
PMID:5279523 PMID:9242607 PMID:9328481 PMID:9803264 PMID:9863590 More... NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Lymphangiomyomatosis
ClinVar Annotator: match by term: Lymphangioleiomyomatosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:606690
DNA:loss of heterozygosity
ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic
ClinVar
CTD
OMIM
RGD
PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 PMID:9302281 More... RGD:1580521, RGD:11568662 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
G Vegfd vascular endothelial growth factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr  X:30,073,122...30,108,413
Ensembl chr  X:30,074,163...30,108,295
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of cellular proliferation 7054
      Neoplasms by Histologic Type 4778
        Vascular Tissue Neoplasms 133
          vascular cancer 37
            perivascular tumor 18
              hemangiopericytic tumor + 2
              pericytoma with t(7;12) 0
              perivascular epithelioid cell tumor + 16
Path 2
Term Annotations click to browse term
  disease 17289
    disease of cellular proliferation 7054
      cancer 5018
        organ system cancer 4850
          cardiovascular cancer 37
            vascular cancer 37
              perivascular tumor 18
                hemangiopericytic tumor + 2
                pericytoma with t(7;12) 0
                perivascular epithelioid cell tumor + 16
paths to the root