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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:cecal disease
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Accession:DOID:1518 term browser browse the term
Definition:An intestinal disease located_in the cecum. (DO)
Synonyms:exact_synonym: cecal diseases;   disorder of cecum
 primary_id: MESH:D002429
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
appendiceal neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Daxx death-domain associated protein ISO DNA:CNV: (human) RGD PMID:30962504 RGD:152025217 NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
JBrowse link
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
appendicitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F2 coagulation factor II ISO RGD PMID:21663567 RGD:5147751 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16367942 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16367942 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Plau plasminogen activator, urokinase ISO protein:increased expression:appendix RGD PMID:19153874 RGD:6483822 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Appendicitis ClinVar PMID:11230481 PMID:15320968 PMID:16384843 PMID:16849421 PMID:18058472 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
Cecal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14688030 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14688030 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14688030 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Krt20 keratin 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14688030 NCBI chr10:84,384,802...84,394,107
Ensembl chr10:84,384,802...84,394,107
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14688030 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      gastrointestinal system disease 6971
        intestinal disease 3062
          cecal disease 12
            Cecal Neoplasms + 7
            Typhlitis 0
            appendicitis 5
paths to the root