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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:cardiovascular cancer
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Accession:DOID:176 term browser browse the term
Definition:An organ system cancer that located_in the heart and blood vessels. (DO)
Synonyms:exact_synonym: cardiovascular neoplasm;   cardiovascular tumors
 xref: NCI:C4784
For additional species annotation, visit the Alliance of Genome Resources.


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adenomatoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf7 TNF receptor associated factor 7 ISO DNA:missense mutations:multiple RGD PMID:29148537 RGD:151356962 NCBI chrNW_004936694:1,868,309...1,886,772 JBrowse link
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;DNA:SNP: :p.S326C (rs1052133)(human)
associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney
associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human)
RGD PMID:17932460 PMID:19265534 RGD:8657154 RGD:8657155 NCBI chrNW_004936602:3,411,106...3,418,826
Ensembl chrNW_004936602:3,413,282...3,418,831
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chrNW_004936506:7,196,860...7,235,854
Ensembl chrNW_004936506:7,196,797...7,233,756
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402
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 chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363
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 chrNW_004936615:4,472,261...4,524,537
Ensembl chrNW_004936615:4,472,247...4,524,556
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 Ensembl chrNW_004936599:973,838...983,316 JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004936778:847,473...943,038 JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13678655 NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293
JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004936472:23,442,946...23,617,523
Ensembl chrNW_004936472:23,440,088...23,617,041
JBrowse link
G Gja4 gap junction protein alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004936474:17,439,250...17,440,829
Ensembl chrNW_004936474:17,439,327...17,440,331
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10930038 NCBI chrNW_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004936522:3,034,364...3,037,632
Ensembl chrNW_004936522:3,035,346...3,036,350
JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ameliorates ISO protein:increased expression:vasculature (human)
human cells in mouse model
RGD PMID:27531900 RGD:329955561 NCBI chrNW_004936706:940,585...952,484 JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:8456858 PMID:24740626 PMID:25157968 PMID:25808193 NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:26822237 NCBI chrNW_004936762:460,342...483,264
Ensembl chrNW_004936762:460,342...483,195
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
associated with neoplasms, radiation-induced; DNA:amplification: (human)
CTD
RGD
PMID:17569031 PMID:26440310 RGD:151665099 NCBI chrNW_004936470:20,480,844...20,485,955
Ensembl chrNW_004936470:20,480,829...20,485,965
JBrowse link
G Plcg1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chrNW_004936561:598,372...631,575
Ensembl chrNW_004936561:598,382...631,581
JBrowse link
G Ptprb protein tyrosine phosphatase receptor type B ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:multiple (human)
DNA:mutations:multiple (human)
CTD
RGD
PMID:24633157 PMID:26440310 RGD:151361292 RGD:151665099 NCBI chrNW_004936545:8,150,766...8,235,674
Ensembl chrNW_004936545:8,147,291...8,235,715
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:blood vessel RGD PMID:18700251 RGD:8694308 NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402
JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004936611:2,420,176...2,531,726
Ensembl chrNW_004936611:2,420,172...2,531,722
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:multiple (human)
CTD
RGD
PMID:10626228 PMID:10930038 PMID:13678655 PMID:20737008 PMID:26440310 RGD:151665099 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
JBrowse link
G Vegfc vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004936516:7,217,543...7,332,531
Ensembl chrNW_004936516:7,217,543...7,332,559
JBrowse link
breast angiosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdr kinase insert domain receptor ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073
JBrowse link
G Ptprb protein tyrosine phosphatase receptor type B ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chrNW_004936545:8,150,766...8,235,674
Ensembl chrNW_004936545:8,147,291...8,235,715
JBrowse link
familial glomangioma 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 term: Familial glomangioma ClinVar PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 PMID:25741868 NCBI chrNW_004936537:6,778,317...6,827,384
Ensembl chrNW_004936537:6,777,965...6,829,881
JBrowse link
glomangioma 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 term: Glomuvenous malformation | ClinVar Annotator: match by term: Glomuvenous malformations OMIM
ClinVar
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23375657 PMID:23801931 More... NCBI chrNW_004936537:6,778,317...6,827,384
Ensembl chrNW_004936537:6,777,965...6,829,881
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 chrNW_004936537:6,778,317...6,827,384
Ensembl chrNW_004936537:6,777,965...6,829,881
JBrowse link
hemangiopericytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chrNW_004936471:4,320,235...4,330,251
Ensembl chrNW_004936471:4,320,933...4,330,253
JBrowse link
G Ephb4 EPH receptor B4 ISO mRNA,protein:decreased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chrNW_004936543:794,837...811,637
Ensembl chrNW_004936543:794,725...811,637
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO mRNA:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chrNW_004936711:640,002...642,580
Ensembl chrNW_004936711:639,905...642,622
JBrowse link
G Hey1 hes related family bHLH transcription factor with YRPW motif 1 ISO mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chrNW_004936871:666,961...670,910
Ensembl chrNW_004936871:666,938...670,916
JBrowse link
G Hey2 hes related family bHLH transcription factor with YRPW motif 2 ISO mRNA:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chrNW_004936639:3,705,225...3,714,696
Ensembl chrNW_004936639:3,703,447...3,716,820
JBrowse link
G Kdr kinase insert domain receptor ISO mRNA:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002
JBrowse link
G Notch1 notch receptor 1 ISO mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428
JBrowse link
G Notch4 notch receptor 4 ISO mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chrNW_004936727:1,386,842...1,409,823 JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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 ISO associated with tuberous sclerosis;DNA:mutations:multiple RGD PMID:22251200 PMID:29512829 RGD:21079730 RGD:21079732 NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363
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 chrNW_004936474:158,376...282,310
Ensembl chrNW_004936474:157,590...282,342
JBrowse link
lymphangioleiomyomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acss2 acyl-CoA synthetase short chain family member 2 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chrNW_004936561:5,794,685...5,842,619
Ensembl chrNW_004936561:5,795,077...5,842,676
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chrNW_004936599:1,491,934...1,535,101
Ensembl chrNW_004936599:1,482,172...1,535,119
JBrowse link
G Esr1 estrogen receptor 1 ISO RGD PMID:18285421 RGD:4892300 NCBI chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chrNW_004936709:1,243,149...1,247,782 JBrowse link
G Gls glutaminase ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chrNW_004936506:7,237,099...7,314,011
Ensembl chrNW_004936506:7,237,099...7,313,976
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chrNW_004936711:640,002...642,580
Ensembl chrNW_004936711:639,905...642,622
JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chrNW_004936621:363,489...380,616
Ensembl chrNW_004936621:366,616...380,618
JBrowse link
G LOC101966363 monocarboxylate transporter 1 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chrNW_004936690:1,448,289...1,461,525
Ensembl chrNW_004936690:1,450,092...1,461,481
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum, plasma RGD PMID:18760908 RGD:5129697 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:lung RGD PMID:11306434 RGD:4892080 NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534
JBrowse link
G Nthl1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Lymphangiomyomatosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936694:1,993,443...2,000,323
Ensembl chrNW_004936694:1,993,443...2,000,333
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Lymphangiomyomatosis ClinVar PMID:25741868 NCBI chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179
JBrowse link
G Pkm pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32078667 NCBI chrNW_004936471:31,589,322...31,617,891
Ensembl chrNW_004936471:31,589,324...31,617,873
JBrowse link
G Rictor RPTOR independent companion of MTOR complex 2 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chrNW_004936518:3,198,312...3,314,393
Ensembl chrNW_004936518:3,198,337...3,310,000
JBrowse link
G Srf serum response factor ISO RGD PMID:12654640 RGD:1580753 NCBI chrNW_004936476:16,779,941...16,789,499
Ensembl chrNW_004936476:16,782,233...16,789,130
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chrNW_004936506:7,196,860...7,235,854
Ensembl chrNW_004936506:7,196,797...7,233,756
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Lymphangiomyomatosis OMIM
ClinVar
PMID:5279523 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 More... NCBI chrNW_004936487:19,331,183...19,386,841
Ensembl chrNW_004936487:19,331,194...19,386,892
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis OMIM
ClinVar
PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 PMID:9302281 More... NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363
JBrowse link
G Vegfd vascular endothelial growth factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chrNW_004936470:4,761,827...4,794,751
Ensembl chrNW_004936470:4,762,332...4,793,938
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14082
      cardiovascular system disease 4119
        cardiovascular cancer 52
          heart cancer + 0
          vascular cancer + 52
Path 2
Term Annotations click to browse term
  disease 16465
    disease of cellular proliferation 6802
      cancer 4918
        organ system cancer 4700
          cardiovascular cancer 52
            heart cancer + 0
            vascular cancer + 52
paths to the root