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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:thymus gland disease
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Accession:DOID:533 term browser browse the term
Definition:disease of thymus gland
Synonyms:exact_synonym: disease of thymus gland
 xref: ICD10CM:E32;   ICD9CM:254;   NCI:C26962
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
thymoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 ISO associated with Myasthenia Gravis RGD PMID:20728226 RGD:5148025 NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919
JBrowse link
G BAP1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G CYLD CYLD lysine 63 deubiquitinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr16:31,004,393...31,064,546
Ensembl chr16:49,882,751...49,942,629
JBrowse link
G DNMT3B DNA methyltransferase 3 beta susceptibility ISO associated with Myasthenia Gravis;DNA:SNP:promoter: -579G>T(human) RGD PMID:24260492 RGD:9589098 NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Thymoma ClinVar PMID:20859122 PMID:24224811 PMID:25157968 PMID:25741868 PMID:26619011 More... NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Thymoma ClinVar PMID:7530509 PMID:9438854 PMID:11276010 PMID:11505412 PMID:12960119 More... NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Thymoma ClinVar PMID:20859122 PMID:24224811 PMID:25157968 PMID:25741868 PMID:26619011 More... NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
JBrowse link
G PBRM1 polybromo 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr 3:52,487,083...52,626,418
Ensembl chr 3:53,718,051...53,850,146
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14598
    disease of anatomical entity 14308
      endocrine system disease 5350
        thymus gland disease 10
          ectopic thymus 0
          thymic dysplasia 0
          thymus cancer + 10
          thymus lipoma 0
Path 2
Term Annotations click to browse term
  disease 14598
    disease of anatomical entity 14308
      Immune & Inflammatory Diseases 4526
        immune system disease 4010
          lymphatic system disease 1375
            thymus gland disease 10
              ectopic thymus 0
              thymic dysplasia 0
              thymus cancer + 10
              thymus lipoma 0
paths to the root