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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.

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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:26619011 PMID:31775759 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:10224103 PMID:10680913 PMID:11276010 PMID:11505412 PMID:12697809 PMID:12960119 PMID:14977822 PMID:15790786 PMID:16226710 PMID:16731599 PMID:16908931 PMID:17372901 PMID:17699867 PMID:18421059 PMID:18448188 PMID:18510589 PMID:18936790 PMID:18980976 PMID:19461405 PMID:19671763 PMID:19812602 PMID:19861435 PMID:19996579 PMID:20736294 PMID:20970876 PMID:21159146 PMID:21325067 PMID:21642685 PMID:21690468 PMID:21969494 PMID:22261812 PMID:22357254 PMID:23375402 PMID:23598963 PMID:24755198 PMID:25157968 PMID:27771813 PMID:28492532 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:26619011 PMID:31775759 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 13605
    disease of anatomical entity 13266
      endocrine system disease 4862
        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 13605
    disease of anatomical entity 13266
      Immune & Inflammatory Diseases 3063
        immune system disease 2585
          lymphatic system disease 1081
            thymus gland disease 10
              ectopic thymus 0
              thymic dysplasia 0
              thymus cancer + 10
              thymus lipoma 0
paths to the root