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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 cancer
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Accession:DOID:175 term browser browse the term
Definition:A cardiovascular cancer that is located_in blood vessels. (DO)
Synonyms:exact_synonym: leiomyosarcoma of the renal vein;   malignant great vessel tumor;   malignant vascular neoplasm;   malignant vascular tumor;   pulmonary artery malignant neoplasm;   pulmonary vein malignant neoplasm;   renal vein leiomyosarcoma
 narrow_synonym: malignant tumor of pulmonary artery;   malignant tumor of pulmonary vein
 xref: NCI:C5348;   NCI:C5380;   NCI:C5383;   NCI:C5388;   NCI:C7388;   NCI:C7390
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 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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 chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
angiosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13678655 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Gja4 gap junction protein, alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:145,374,688...145,377,221
Ensembl chr 5:145,374,690...145,377,221
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10930038 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Angiosarcoma
CTD
ClinVar
PMID:8456858, PMID:10930038, PMID:12211074, PMID:13678655, PMID:20737008, PMID:24740626, PMID:25157968, PMID:25808193 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:26822237 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr 3:156,727,642...156,758,307
Ensembl chr 3:156,727,642...156,758,307
JBrowse link
G Ptprb protein tyrosine phosphatase, receptor type, B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr 7:59,326,484...59,431,114
Ensembl chr 7:59,326,518...59,425,718
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:blood vessel RGD PMID:18700251 RGD:8694308 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10626228, PMID:10930038, PMID:13678655, PMID:20737008 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vegfc vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr16:40,440,371...40,555,178
Ensembl chr16:40,440,207...40,555,576
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 chr14:3,204,390...3,247,703
Ensembl chr14:3,204,390...3,247,695
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, PMID:12386824, PMID:12696072, PMID:14557476, PMID:15032977, PMID:15623805, PMID:18678321, PMID:21565294, PMID:21979946, PMID:22584711, PMID:22703879, PMID:23175444, PMID:23666964, PMID:24033266, PMID:24728327, PMID:24886695, PMID:25149476, PMID:25694510, PMID:25695889, PMID:25741868, PMID:26467025, PMID:27153395, PMID:27279923, PMID:28128698, PMID:28164237, PMID:28492532, PMID:29386252 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
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, PMID:25741868, PMID:28492532 NCBI chr14:3,204,390...3,247,703
Ensembl chr14:3,204,390...3,247,695
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 chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Renal angiomyolipoma ClinVar PMID:30311386 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr11:74,312,837...74,315,249
Ensembl chr11:74,312,806...74,315,248
JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr 6:137,711,144...137,733,331
Ensembl chr 6:137,711,155...137,733,026
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO RGD PMID:23035046 RGD:8693678 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum, plasma RGD PMID:18760908 RGD:5129697 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:lung RGD PMID:11306434 RGD:4892080 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Pkm pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32078667 NCBI chr 8:64,480,963...64,502,957
Ensembl chr 8:64,481,172...64,502,722
JBrowse link
G Srf serum response factor ISO RGD PMID:12654640 RGD:1580753 NCBI chr 9:16,737,637...16,747,226
Ensembl chr 9:16,737,642...16,747,225
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tsc1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lymphangiomyomatosis
ClinVar Annotator: match by OMIM:606690
OMIM
CTD
ClinVar
PMID:5279523, PMID:9242607, PMID:9328481, PMID:9803264, PMID:9863590, PMID:9924605, PMID:10090883, PMID:10227394, PMID:10353610, PMID:10363127, PMID:10533066, PMID:10533067, PMID:10570911, PMID:10607950, PMID:10874311, PMID:11112665, PMID:11208653, PMID:11329144, PMID:11829138, PMID:12111193, PMID:12773163, PMID:12853839, PMID:14633685, PMID:15798777, PMID:16114042, PMID:16981987, PMID:17304050, PMID:18032745, PMID:18772611, PMID:18830229, PMID:19419980, PMID:20547222, PMID:21510812, PMID:21520333, PMID:21811971, PMID:22490766, PMID:22703879, PMID:22707517, PMID:22923433, PMID:23254740, PMID:23401075, PMID:24033266, PMID:24633152, PMID:24728327, PMID:25525159, PMID:25741868, PMID:25900779, PMID:26231267, PMID:26467025, PMID:27425891, PMID:27494029, PMID:28492532, PMID:29221145, PMID:32078667 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
G Tsc2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lymphangiomyomatosis
ClinVar Annotator: match by term: Lymphangioleiomyomatosis
ClinVar Annotator: match by OMIM:606690
DNA:loss of heterozygosity
ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic
CTD
ClinVar
OMIM
PMID:5279523, PMID:8824881, PMID:9076719, PMID:9285776, PMID:9302281, PMID:9412784, PMID:9463313, PMID:9829910, PMID:10090883, PMID:10205261, PMID:10215407, PMID:10533066, PMID:10533067, PMID:10570911, PMID:10577937, PMID:10607950, PMID:10633137, PMID:10732801, PMID:10735580, PMID:10823953, PMID:10905251, PMID:10942116, PMID:11112665, PMID:11208653, PMID:11290735, PMID:11520734, PMID:11521203, PMID:11603814, PMID:11741832, PMID:11741833, PMID:11829138, PMID:12062115, PMID:12086608, PMID:12111193, PMID:12136241, PMID:12235314, PMID:12752578, PMID:14993219, PMID:15024740, PMID:15072102, PMID:15483652, PMID:15595939, PMID:15798777, PMID:15874888, PMID:15963462, PMID:16032769, PMID:16114042, PMID:16464865, PMID:16554133, PMID:16981987, PMID:17120248, PMID:17304050, PMID:17536269, PMID:18032745, PMID:18302728, PMID:18308511, PMID:18414213, PMID:18854862, PMID:19369101, PMID:20108343, PMID:20165957, PMID:20399389, PMID:20633017, PMID:21252315, PMID:21309039, PMID:21332470, PMID:21510812, PMID:21520333, PMID:21910228, PMID:22552000, PMID:22558107, PMID:22703879, PMID:22867869, PMID:22903760, PMID:23006675, PMID:23254740, PMID:23389244, PMID:23504366, PMID:23955302, PMID:24033266, PMID:24055113, PMID:24271014, PMID:24412076, PMID:25088526, PMID:25281918, PMID:25525159, PMID:25599672, PMID:25637381, PMID:25741868, PMID:26332594, PMID:26467025, PMID:26540169, PMID:26703369, PMID:27153395, PMID:27174333, PMID:27600092, PMID:27884173, PMID:28065512, PMID:28127866, PMID:28178598, PMID:28397210, PMID:28492532, PMID:28968464, PMID:29476190, PMID:29500070, PMID:29801666, PMID:30311386, PMID:32078667, PMID:10823953, PMID:20639436 RGD:1580521, RGD:11568662 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Vegfd vascular endothelial growth factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr  X:31,816,480...31,852,239
Ensembl chr  X:31,816,436...31,851,715
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      cardiovascular system disease 4424
        cardiovascular cancer 37
          vascular cancer 37
            angiosarcoma + 20
            aortic malignant tumor 0
            carotid body cancer 0
            malignant hemangioma + 0
            perivascular tumor + 18
            pulmonary artery choriocarcinoma 0
            pulmonary artery leiomyosarcoma 0
            pulmonary vein leiomyosarcoma 0
            superior vena cava angiosarcoma 0
            superior vena cava leiomyosarcoma 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      cardiovascular system disease 4424
        vascular disease 3354
          Vascular Tissue Neoplasms 135
            vascular cancer 37
              angiosarcoma + 20
              aortic malignant tumor 0
              carotid body cancer 0
              malignant hemangioma + 0
              perivascular tumor + 18
              pulmonary artery choriocarcinoma 0
              pulmonary artery leiomyosarcoma 0
              pulmonary vein leiomyosarcoma 0
              superior vena cava angiosarcoma 0
              superior vena cava leiomyosarcoma 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.