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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 1 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 6:113,326,972...113,334,877
Ensembl chr 6:113,326,972...113,335,068
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr 1:52,119,438...52,161,865
Ensembl chr 1:52,119,440...52,161,865
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540
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 chr17:24,595,816...24,632,676
Ensembl chr17:24,595,816...24,632,630
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 chr 8:18,690,263...18,741,562
Ensembl chr 8:18,690,263...18,741,562
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 7:144,929,931...144,939,831
Ensembl chr 7:144,929,931...144,939,925
JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr10:77,052,178...77,166,530
Ensembl chr10:77,052,178...77,166,548
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr11:98,700,183...98,703,631
Ensembl chr11:98,701,263...98,703,629
JBrowse link
G Ctnnb1 catenin (cadherin associated protein), beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13678655 NCBI chr 9:120,933,400...120,960,507
Ensembl chr 9:120,929,216...120,960,507
JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:147,561,604...147,726,438
Ensembl chr 5:147,561,604...147,726,011
JBrowse link
G Gja4 gap junction protein, alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 4:127,311,420...127,314,039
Ensembl chr 4:127,311,421...127,314,039
JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:10930038 NCBI chr 7:141,189,934...141,194,019
Ensembl chr 7:141,189,105...141,194,005
JBrowse link
G Jun jun proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 4:95,049,036...95,052,222
Ensembl chr 4:95,049,034...95,052,222
JBrowse link
G Kdr kinase insert domain protein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:75,932,827...75,979,072
Ensembl chr 5:75,932,827...75,978,458
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog 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 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:26822237 NCBI chr  X:101,274,091...101,298,934
Ensembl chr  X:101,274,030...101,297,465
JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr 2:160,731,310...160,775,760
Ensembl chr 2:160,731,300...160,775,760
JBrowse link
G Ptprb protein tyrosine phosphatase, receptor type, B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr10:116,275,502...116,389,538
Ensembl chr10:116,275,523...116,389,535
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:blood vessel RGD PMID:18700251 RGD:8694308 NCBI chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540
JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 4:94,739,086...94,874,976
Ensembl chr 4:94,739,289...94,874,976
JBrowse link
G Trp53 transformation related protein 53 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:10626228 PMID:10930038 PMID:13678655 PMID:20737008 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Vegfc vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 8:54,077,532...54,186,454
Ensembl chr 8:54,077,606...54,187,096
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 5:107,548,962...107,597,888
Ensembl chr 5:107,548,967...107,597,888
JBrowse link
G Sdhd succinate dehydrogenase complex, subunit D, integral membrane protein 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 9:50,596,340...50,603,849
Ensembl chr 9:50,596,357...50,603,812
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 chr 5:107,548,962...107,597,888
Ensembl chr 5:107,548,967...107,597,888
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 chr17:24,595,816...24,632,676
Ensembl chr17:24,595,816...24,632,630
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 4:148,448,582...148,557,685
Ensembl chr 4:148,448,611...148,557,683
JBrowse link
lymphangioleiomyomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 (alpha) ISO RGD PMID:18285421 RGD:4892300 NCBI chr10:4,611,989...5,005,633
Ensembl chr10:4,611,593...5,005,614
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr16:30,065,357...30,067,796
Ensembl chr16:30,064,384...30,067,796
JBrowse link
G Jag2 jagged 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr12:112,907,803...112,929,812
Ensembl chr12:112,907,819...112,929,776
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment IEP RGD PMID:23035046 RGD:8693678 NCBI chr 9:7,445,822...7,455,975
Ensembl chr 9:7,445,822...7,455,975
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum, plasma RGD PMID:18760908 RGD:5129697 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO protein:increased expression:lung RGD PMID:11306434 RGD:4892080 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Pkm pyruvate kinase, muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:32078667 NCBI chr 9:59,656,576...59,679,372
Ensembl chr 9:59,656,368...59,679,375
JBrowse link
G Srf serum response factor IDA
ISO
RGD PMID:12654640, PMID:12654640 RGD:1580753, RGD:1580753 NCBI chr17:46,546,838...46,558,267
Ensembl chr17:46,548,329...46,556,175
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr 1:52,119,438...52,161,865
Ensembl chr 1:52,119,440...52,161,865
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540
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 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:12015165 PMID:12111193 PMID:12773163 PMID:12853839 PMID:14633685 PMID:14756965 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:26540169 PMID:27425891 PMID:27494029 PMID:28087349 PMID:28492532 PMID:29221145 PMID:29286531 PMID:29655203 PMID:29932062 PMID:32078667 NCBI chr 2:28,640,993...28,691,172
Ensembl chr 2:28,641,228...28,691,167
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
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:11068191 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:16199547 PMID:16464865 PMID:16554133 PMID:16981987 PMID:17034546 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:23514105 PMID:23955302 PMID:24033266 PMID:24055113 PMID:24271014 PMID:24412076 PMID:25088526 PMID:25281918 PMID:25525159 PMID:25599672 PMID:25637381 PMID:25741868 PMID:25862857 PMID:26332594 PMID:26467025 PMID:26540169 PMID:26703369 PMID:27153395 PMID:27174333 PMID:27600092 PMID:27757534 PMID:27884173 PMID:28065512 PMID:28127866 PMID:28178598 PMID:28397210 PMID:28492532 PMID:28968464 PMID:29476190 PMID:29500070 PMID:29801666 PMID:31586081 PMID:32078667 PMID:32860008, PMID:10823953, PMID:20639436 RGD:1580521, RGD:11568662 NCBI chr17:24,595,816...24,632,676
Ensembl chr17:24,595,816...24,632,630
JBrowse link
G Vegfd vascular endothelial growth factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr  X:164,373,522...164,402,650
Ensembl chr  X:164,373,378...164,402,650
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14453
    disease of anatomical entity 14044
      cardiovascular system disease 3679
        cardiovascular cancer 37
          heart cancer + 0
          vascular cancer + 37
Path 2
Term Annotations click to browse term
  disease 14453
    disease of cellular proliferation 6798
      cancer 4862
        organ system cancer 4703
          cardiovascular cancer 37
            heart cancer + 0
            vascular cancer + 37
paths to the root