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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:benign vascular tumor
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Accession:DOID:60006 term browser browse the term
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
colon adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 IEP protein:increased expression:: RGD PMID:11809809 RGD:151356508 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648 		JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D HEP protein:increased expression:colon (human) RGD PMID:29079724 RGD:152177516 NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733 		JBrowse link
G CCND1 cyclin D1 severity IEP RGD PMID:11375949 RGD:151665121 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CCND2 cyclin D2 severity IEP RGD PMID:11375949 RGD:151665121 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353 		JBrowse link
G CHKA choline kinase alpha IEP protein:increased expression:colonic mucosa (human) RGD PMID:10363580 RGD:10401945 NCBI chr11:68,052,859...68,121,388
Ensembl chr11:68,052,859...68,121,444 		JBrowse link
G IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 ISO RGD PMID:26194191 RGD:11086893 NCBI chr17:48,996,558...49,056,145
Ensembl chr17:48,997,385...49,056,145 		JBrowse link
G RAC1 Rac family small GTPase 1 IEP RGD PMID:12865273 RGD:13432048 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967 		JBrowse link
G RBP4 retinol binding protein 4 IEP protein:increased expression:blood serum (human) RGD PMID:25712946 RGD:329849123 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IEP mRNA:decreased expression:colon (human) RGD PMID:29875879 RGD:150429665 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
cystic lymphangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain IAGP ClinVar Annotator: match by term: Cystic hygroma ClinVar PMID:10677296 PMID:21204229 PMID:22246659 PMID:24033266 PMID:25741868 More... NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
lymphangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Lymphangioma ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 IEP protein:increased expression:;lymphatic endothelial cell: RGD PMID:17584927 RGD:8552338 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G KDR kinase insert domain receptor IEP protein:increased expression:;lymphatic endothelial cell: RGD PMID:17584927 RGD:8552338 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Cavernous lymphangioma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
Nuchal Bleb, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator IAGP ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 More... NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More... NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
sigmoid neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Sigmoid colon cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Sigmoid colon cancer ClinVar PMID:10495924 PMID:12658575 PMID:15849733 PMID:17312306 PMID:18566915 More... NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Sigmoid colon cancer ClinVar PMID:9354786 PMID:12376507 PMID:18809606 PMID:19924528 PMID:20176959 More... NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      cardiovascular system disease 16231
        cardiovascular organ benign neoplasm 151
          benign vascular tumor 20
            lymphangioma + 20
Path 2
Term Annotations click to browse term
  disease 97387
    disease of cellular proliferation 23028
      benign neoplasm 3531
        organ system benign neoplasm 2059
          cardiovascular organ benign neoplasm 151
            benign vascular tumor 20
              lymphangioma + 20
paths to the root