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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:intestinal benign neoplasm
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Accession:DOID:4610 term browser browse the term
Definition:A gastrointestinal system benign neoplasm that is located_in the intestine. (DO)
Synonyms:exact_synonym: intestinal tumors;   intestine growth;   neoplasm of intestinal tract
 xref: NCI:C3141
For additional species annotation, visit the Alliance of Genome Resources.


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anus benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifnb1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12170190 PMID:12397731 NCBI chr 5:103,020,969...103,021,523
Ensembl chr 5:103,020,969...103,021,523
JBrowse link
appendiceal neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nap1l1 nucleosome assembly protein 1-like 1 severity ISO mRNA:increased expression:appendix, mucosa (human) RGD PMID:16794389 RGD:9590083 NCBI chr 7:46,933,278...46,957,853
Ensembl chr 7:46,933,356...46,956,593
JBrowse link
colon adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chka choline kinase alpha ISO protein:increased expression:colonic mucosa (human) RGD PMID:10363580 RGD:10401945 NCBI chr 1:201,076,804...201,125,517
Ensembl chr 1:201,076,860...201,125,516
JBrowse link
G Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 ISO RGD PMID:26194191 RGD:11086893 NCBI chr10:80,908,300...80,951,097
Ensembl chr10:80,908,076...80,951,129
JBrowse link
G Rac1 Rac family small GTPase 1 ISO RGD PMID:12865273 RGD:13432048 NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
JBrowse link
colorectal adenoma 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: Colorectal adenoma ClinVar PMID:2472832 PMID:10811618 PMID:11257105 PMID:11904335 PMID:16454848 More... NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 ISO RGD PMID:21122381 RGD:13217408 NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression ISO protein:increased expression:large intestine RGD PMID:30214616 RGD:126779593 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G F5 coagulation factor V ISO protein:increased expression:serum RGD PMID:30971492 RGD:40907058 NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:8264230 RGD:13210753 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion:cds (human) RGD PMID:20375710 RGD:7495820 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO DNA:SNP: :p.A114V (human) RGD PMID:20375710 RGD:7495820 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:8264230 RGD:13210753 NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:21122381 PMID:23082052 RGD:13217408, RGD:13217413 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Mir224 microRNA 224 ISO mRNA:increased expression:colorectal mucosa: RGD PMID:25919696 RGD:14398749 NCBI chr  X:150,065,088...150,065,169
Ensembl chr  X:150,065,088...150,065,169
JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO RGD PMID:21122381 RGD:13217408 NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
JBrowse link
G Smad4 SMAD family member 4 ISO mRNA:increased expression:mucosa RGD PMID:11480790 RGD:21066339 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum, colorectal mucosa, epithelial cell RGD PMID:23082052 RGD:13217413 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
duodenal gastrinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Men1 menin 1 ISO associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : RGD PMID:17135306 RGD:2317341 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
rectal benign 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 CTD Direct Evidence: marker/mechanism CTD PMID:8071957 PMID:11766074 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15525823 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16839708 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:21975339 RGD:13210759 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO DNA:SNP: :rs10508901 (human)
DNA:SNP: :rs10857561 (human)
RGD PMID:22199996 PMID:23027623 RGD:13217410, RGD:13217411 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Mcc MCC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:8071957 NCBI chr18:36,794,206...37,266,237
Ensembl chr18:36,798,372...37,266,819
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO DNA:transition:cds:g.677C>T (human) RGD PMID:21865946 RGD:6893664 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO CTD Direct Evidence: marker/mechanism CTD PMID:12468628 NCBI chr 1:196,796,257...196,831,740 JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:3102434 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha susceptibility ISO DNA:SNP:intron: (rs7651265) (human) RGD PMID:20622004 RGD:5685669 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta disease_progression ISO RGD PMID:25473181 RGD:13432031 NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663
JBrowse link
G Pmepa1 prostate transmembrane protein, androgen induced 1 ISO mRNA:increased expression:rectum RGD PMID:11568975 RGD:2315108 NCBI chr 3:162,011,884...162,060,137
Ensembl chr 3:162,012,751...162,060,454
JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16931962 NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 treatment ISO RGD PMID:22805008 RGD:21081677 NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      gastrointestinal system disease 6059
        intestinal disease 2446
          Intestinal Neoplasms 1526
            intestinal benign neoplasm 32
              appendiceal neoplasm + 1
              cecal benign neoplasm + 0
              colonic benign neoplasm + 3
              colorectal adenoma 15
              intestinal neuroendocrine benign tumor + 1
              large bowel leiomyoma + 0
              large intestine adenoma 0
              large intestine lipoma + 0
              rectal benign neoplasm + 15
              small intestine benign neoplasm + 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      gastrointestinal system disease 6059
        Gastrointestinal Diseases 4144
          Gastrointestinal Neoplasms 3305
            gastrointestinal system benign neoplasm 169
              intestinal benign neoplasm 32
                appendiceal neoplasm + 1
                cecal benign neoplasm + 0
                colonic benign neoplasm + 3
                colorectal adenoma 15
                intestinal neuroendocrine benign tumor + 1
                large bowel leiomyoma + 0
                large intestine adenoma 0
                large intestine lipoma + 0
                rectal benign neoplasm + 15
                small intestine benign neoplasm + 1
paths to the root