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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 chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
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;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 4:148,030,237...148,037,599
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 1:240,043,707...240,110,330
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 9:56,911,522...56,951,926
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr10:86,311,528...86,363,513
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 chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951
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 chr16:77,790,760...77,841,241
Ensembl chr16:71,088,364...71,138,804
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr20:11,473,645...11,582,111
Ensembl chr20:11,474,104...11,582,593
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13678655 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Gja4 gap junction protein, alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:144,917,791...144,920,324
Ensembl chr 5:139,633,287...139,635,925
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10930038 NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:109,893,145...109,897,656
JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ameliorates ISO human cells in mouse model
protein:increased expression:vasculature (human)
RGD PMID:27531900 PMID:27531900 RGD:329955561, RGD:329955561 NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10930038 PMID:12211074 PMID:13678655 PMID:20737008 NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:26822237 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387
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 chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr 3:169,805,299...169,836,040
Ensembl chr 3:149,385,587...149,416,330
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 PMID:24633157 RGD:151665099, RGD:151361292 NCBI chr 7:53,816,197...53,920,760
Ensembl chr 7:51,930,015...52,034,748
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:blood vessel RGD PMID:18700251 RGD:8694308 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:114,722,815...114,849,535
Ensembl chr 5:109,607,077...109,733,804
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 chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vegfc vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr16:44,445,293...44,560,887
Ensembl chr16:37,712,262...37,827,848
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 chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Ptprb protein tyrosine phosphatase, receptor type, B ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr 7:53,816,197...53,920,760
Ensembl chr 7:51,930,015...52,034,748
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:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 More... NCBI chr14:2,332,052...2,375,366
Ensembl chr14:2,187,642...2,230,420
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23375657 PMID:23801931 More... NCBI chr14:2,332,052...2,375,366
Ensembl chr14:2,187,642...2,230,420
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 chr14:2,332,052...2,375,366
Ensembl chr14:2,187,642...2,230,420
JBrowse link
heart cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H19 H19 imprinted maternally expressed transcript ameliorates ISO RGD PMID:30843379 RGD:242905197 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
JBrowse link
G Mir130a microRNA 130a ameliorates ISO RGD PMID:30843379 RGD:242905197 NCBI chr 3:90,229,228...90,229,315
Ensembl chr 3:69,822,542...69,822,629
JBrowse link
G Mir17 microRNA 17 ameliorates ISO RGD PMID:30843379 RGD:242905197 NCBI chr15:98,587,848...98,587,931
Ensembl chr15:92,180,629...92,180,712
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 chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
JBrowse link
G Ephb4 EPH receptor B4 ISO mRNA,protein:decreased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr12:24,963,174...24,988,473
Ensembl chr12:19,326,427...19,351,314
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO mRNA:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr11:84,210,632...84,213,045
Ensembl chr11:70,705,764...70,708,192
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 chr 2:95,003,935...95,006,457
Ensembl chr 2:93,095,498...93,100,312
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 chr 1:28,641,100...28,651,187
Ensembl chr 1:26,822,131...26,832,218
JBrowse link
G Kdr kinase insert domain receptor ISO mRNA:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Notch1 notch receptor 1 ISO mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Notch4 notch receptor 4 ISO mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,160,445...4,184,465
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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 chr10:14,125,679...14,160,317
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 5:164,167,985...164,277,438
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 Acss2 acyl-CoA synthetase short-chain family member 2 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 3:164,464,124...164,507,607
Ensembl chr 3:144,004,336...144,059,675
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 1:209,993,881...210,056,329
Ensembl chr 1:200,565,613...200,627,055
JBrowse link
G Esr1 estrogen receptor 1 ISO RGD PMID:18285421 RGD:4892300 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235
JBrowse link
G Gls glutaminase ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 9:56,836,584...56,908,861
Ensembl chr 9:49,344,781...49,416,900
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr11:84,210,632...84,213,045
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 6:137,804,133...137,826,738
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 8:12,925,267...12,938,828
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 3:174,103,474...174,111,434
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 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Nthl1 nth-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic ClinVar PMID:25741868 PMID:28492532 NCBI chr10:14,160,334...14,166,502
Ensembl chr10:13,655,785...13,661,957
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Lymphangiomyomatosis ClinVar PMID:25741868 NCBI chr10:14,077,733...14,125,682
Ensembl chr10:13,573,021...13,621,128
JBrowse link
G Pkm pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32078667 NCBI chr 8:68,949,731...68,975,394
Ensembl chr 8:60,057,402...60,079,599
JBrowse link
G Rictor RPTOR independent companion of MTOR, complex 2 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 2:57,539,279...57,631,291
Ensembl chr 2:55,811,322...55,901,426
JBrowse link
G Slc16a1 solute carrier family 16 member 1 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 2:194,805,556...194,832,966
Ensembl chr 2:192,124,289...192,144,611
JBrowse link
G Srf serum response factor ISO RGD PMID:12654640 RGD:1580753 NCBI chr 9:21,924,050...21,933,338
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 9:56,911,522...56,951,926
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:5279523 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 More... NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:11,979,729...12,015,674
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
CTD Direct Evidence: marker/mechanism
DNA:loss of heterozygosity
ClinVar
CTD
OMIM
RGD
PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 PMID:9302281 More... RGD:1580521, RGD:11568662 NCBI chr10:14,125,679...14,160,317
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:33,704,582...33,740,305
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 19142
    disease of anatomical entity 18455
      cardiovascular system disease 5547
        cardiovascular cancer 56
          heart cancer + 3
          vascular cancer + 53
Path 2
Term Annotations click to browse term
  disease 19142
    disease of cellular proliferation 7892
      cancer 5722
        organ system cancer 5469
          cardiovascular cancer 56
            heart cancer + 3
            vascular cancer + 53
paths to the root