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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 chr16:1,013,831...1,036,486
Ensembl chr16:2,266,194...2,279,031
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:17932460 PMID:19265534 RGD:8657154 RGD:8657155 NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335
JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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 chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
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 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915
JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr11:64,737,006...64,750,353 JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr21:31,720,358...31,834,470 JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13678655 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr13:9,584,850...9,779,542 JBrowse link
G GJA4 gap junction protein alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 1:34,059,901...34,063,181 JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10930038 NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 1:58,042,794...58,045,536 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 RGD:329955561 NCBI chr19:40,715,621...40,735,025
Ensembl chr19:49,321,403...49,335,900
JBrowse link
G KDR kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:26822237 NCBI chr  X:60,386,820...60,410,730
Ensembl chr  X:70,443,667...70,466,942
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 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
JBrowse link
G PLCG1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr20:37,477,077...37,515,854
Ensembl chr20:38,572,709...38,615,145
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 chr12:68,025,973...68,147,613
Ensembl chr12:70,797,843...70,915,308
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:blood vessel RGD PMID:18700251 RGD:8694308 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
JBrowse link
G TEK TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 9:26,955,339...27,077,809
Ensembl chr 9:27,561,421...27,683,572
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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
G VEGFC vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 4:168,870,941...168,999,160
Ensembl chr 4:181,104,737...181,236,030
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 chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
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 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
G PTPRB protein tyrosine phosphatase receptor type B ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr12:68,025,973...68,147,613
Ensembl chr12:70,797,843...70,915,308
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 chr 1:94,907,342...94,963,052
Ensembl chr 1:93,646,499...93,701,430
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 chr 1:94,907,342...94,963,052
Ensembl chr 1:93,646,499...93,701,430
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 1:94,907,342...94,963,052
Ensembl chr 1:93,646,499...93,701,430
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 chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471
JBrowse link
G EPHB4 EPH receptor B4 ISO mRNA,protein:decreased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022
JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO mRNA:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257
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 8:76,286,433...76,290,507
Ensembl chr 8:77,913,761...77,921,201
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 6:123,527,180...123,538,794
Ensembl chr 6:127,647,547...127,659,056
JBrowse link
G KDR kinase insert domain receptor ISO mRNA:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G NOTCH1 notch receptor 1 ISO mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
JBrowse link
G NOTCH4 notch receptor 4 ISO mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978
JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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 chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
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 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
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 chr20:31,205,104...31,256,263
Ensembl chr20:32,329,721...32,380,526
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481
JBrowse link
G ESR1 estrogen receptor 1 ISO RGD PMID:18285421 RGD:4892300 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729
JBrowse link
G GLS glutaminase ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr2B:78,182,117...78,267,071
Ensembl chr2B:196,098,910...196,183,323
JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257
JBrowse link
G JAG2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr14:85,785,586...85,812,056
Ensembl chr14:105,569,837...105,585,878
JBrowse link
G MMP3 matrix metallopeptidase 3 treatment ISO RGD PMID:23035046 RGD:8693678 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum, plasma RGD PMID:18760908 RGD:5129697 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:lung RGD PMID:11306434 RGD:4892080 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G NTHL1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Lymphangiomyomatosis ClinVar PMID:25741868 PMID:28492532 NCBI chr16:655,433...663,521
Ensembl chr16:2,127,858...2,135,656
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Lymphangiomyomatosis ClinVar PMID:25741868 NCBI chr16:604,366...605,560 JBrowse link
G PKM pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32078667 NCBI chr15:51,149,584...51,182,193
Ensembl chr15:69,913,455...69,945,832
JBrowse link
G RICTOR RPTOR independent companion of MTOR complex 2 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 5:71,299,215...71,435,290
Ensembl chr 5:76,389,130...76,469,830
JBrowse link
G SLC16A1 solute carrier family 16 member 1 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 1:115,555,561...115,600,302
Ensembl chr 1:124,755,250...124,800,032
JBrowse link
G SRF serum response factor ISO RGD PMID:12654640 RGD:1580753 NCBI chr 6:42,763,099...42,773,332
Ensembl chr 6:44,057,192...44,066,768
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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 chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759
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 chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
JBrowse link
G VEGFD vascular endothelial growth factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr  X:7,972,227...8,011,263
Ensembl chr  X:15,254,945...15,293,704
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17944
    disease of anatomical entity 15181
      cardiovascular system disease 4304
        cardiovascular cancer 53
          heart cancer + 0
          vascular cancer + 53
Path 2
Term Annotations click to browse term
  disease 17944
    disease of cellular proliferation 7212
      cancer 5211
        organ system cancer 4977
          cardiovascular cancer 53
            heart cancer + 0
            vascular cancer + 53
paths to the root