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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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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:missense mutations: :p.R45Q, p.A85S, p.R229Q (human)
associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney
associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human)
RGD PMID:17932460 PMID:19265534 RGD:8657154 RGD:8657155 NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264
JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
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 chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960
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 chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701
JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr31:38,915,872...38,957,484 JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13678655 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621
JBrowse link
G GJA4 gap junction protein alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr15:7,167,665...7,170,388 JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10930038 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:50,966,698...50,968,939 JBrowse link
G KDR kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
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 chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:26822237 NCBI chr  X:55,487,629...55,508,941
Ensembl chr  X:55,482,013...55,509,992
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
JBrowse link
G PLCG1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr24:29,198,536...29,213,899
Ensembl chr24:29,198,556...29,214,714
JBrowse link
G PTPRB protein tyrosine phosphatase receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr10:12,267,891...12,384,522
Ensembl chr10:12,241,716...12,384,435
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:blood vessel RGD PMID:18700251 RGD:8694308 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G TEK TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr11:45,278,375...45,377,300
Ensembl chr11:45,278,891...45,409,093
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10626228 PMID:10930038 PMID:13678655 PMID:20737008 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G VEGFC vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr16:52,883,242...52,987,684
Ensembl chr16:52,883,139...52,987,563
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 chr 6:56,631,186...56,678,397
Ensembl chr 6:56,644,456...56,678,399
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:24367056 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 5:21,030,295...21,041,125 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 OMIM NCBI chr 6:56,631,186...56,678,397
Ensembl chr 6:56,644,456...56,678,399
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 DNA:mutations:multiple
associated with tuberous sclerosis;DNA:mutations:multiple
RGD PMID:22251200 PMID:29512829 RGD:21079730 RGD:21079732 NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960
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 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
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 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814
G JAG2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr 8:72,535,539...72,553,531
Ensembl chr 8:72,535,107...72,550,322
JBrowse link
G MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) treatment ISO RGD PMID:23035046 RGD:8693678 NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum, plasma RGD PMID:18760908 RGD:5129697 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:lung RGD PMID:11306434 RGD:4892080 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G PKM pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32078667 NCBI chr30:35,712,853...35,737,643 JBrowse link
G SRF serum response factor ISO RGD PMID:12654640 RGD:1580753 NCBI chr12:11,664,441...11,673,846
Ensembl chr12:11,664,527...11,671,533
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G TSC1 TSC complex subunit 1 ISO OMIM NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677
JBrowse link
G TSC2 TSC complex subunit 2 ISO OMIM NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960
JBrowse link
G VEGFD vascular endothelial growth factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr  X:11,590,097...11,627,199
Ensembl chr  X:11,590,089...11,626,486
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13760
    disease of anatomical entity 13412
      cardiovascular system disease 3451
        cardiovascular cancer 37
          heart cancer + 0
          vascular cancer + 37
Path 2
Term Annotations click to browse term
  disease 13760
    disease of cellular proliferation 6541
      cancer 4684
        organ system cancer 4529
          cardiovascular cancer 37
            heart cancer + 0
            vascular cancer + 37
paths to the root