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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 ISO protein:increased expression:: RGD PMID:11809809 RGD:151356508 NCBI chr12:12,311,293...12,343,207
Ensembl chr12:12,311,298...12,343,200 		JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO protein:increased expression:colon (human) RGD PMID:29079724 RGD:152177516 NCBI chr13:35,568,534...35,911,483
Ensembl chr13:35,436,519...35,909,662 		JBrowse link
G CCND1 cyclin D1 severity ISO RGD PMID:11375949 RGD:151665121 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296 		JBrowse link
G CCND2 cyclin D2 severity ISO RGD PMID:11375949 RGD:151665121 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571 		JBrowse link
G CHKA choline kinase alpha ISO protein:increased expression:colonic mucosa (human) RGD PMID:10363580 RGD:10401945 NCBI chr 2:4,788,508...4,846,667
Ensembl chr 2:4,788,213...4,846,665 		JBrowse link
G IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 ISO RGD PMID:26194191 RGD:11086893 NCBI chr12:25,196,955...25,244,660
Ensembl chr12:25,197,058...25,243,272 		JBrowse link
G RAC1 Rac family small GTPase 1 ISO RGD PMID:12865273 RGD:13432048 NCBI chr 3:4,781,776...4,803,510
Ensembl chr 3:4,781,780...4,803,543 		JBrowse link
G RBP4 retinol binding protein 4 ISO protein:increased expression:blood serum (human) RGD PMID:25712946 RGD:329849123 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 ISO mRNA:decreased expression:colon (human) RGD PMID:29875879 RGD:150429665 NCBI chr 8:116,413,253...116,546,976
Ensembl chr 8:116,415,267...116,545,299 		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 ISO ClinVar Annotator: match by term: Cystic hygroma ClinVar PMID:10677296 PMID:21204229 PMID:22246659 PMID:24033266 PMID:25741868 More... NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,491...25,234,888 		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 ISO ClinVar Annotator: match by term: Lymphangioma ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO protein:increased expression:;lymphatic endothelial cell: RGD PMID:17584927 RGD:8552338 NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126 		JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:;lymphatic endothelial cell: RGD PMID:17584927 RGD:8552338 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Cavernous lymphangioma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587 		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 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 More... NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More... NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,209,641...101,362,723 		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 ISO ClinVar Annotator: match by term: Sigmoid colon cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887 		JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Sigmoid colon cancer ClinVar PMID:10495924 PMID:12658575 PMID:15849733 PMID:17312306 PMID:18566915 More... NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Sigmoid colon cancer ClinVar PMID:9354786 PMID:12376507 PMID:18809606 PMID:19924528 PMID:20176959 More... NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15390
    disease of anatomical entity 15084
      cardiovascular system disease 4457
        cardiovascular organ benign neoplasm 130
          benign vascular tumor 20
            lymphangioma + 20
Path 2
Term Annotations click to browse term
  disease 15390
    disease of cellular proliferation 7396
      benign neoplasm 2123
        organ system benign neoplasm 1236
          cardiovascular organ benign neoplasm 130
            benign vascular tumor 20
              lymphangioma + 20
paths to the root