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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 IEP associated with Myasthenia Gravis RGD PMID:20728226 RGD:5148025 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771 		JBrowse link
G BAP1 BRCA1 associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr 3:52,401,004...52,410,030
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,753...21,995,301
Ensembl chr 9:21,967,753...21,995,301 		JBrowse link
G CYLD CYLD lysine 63 deubiquitinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta susceptibility IAGP associated with Myasthenia Gravis;DNA:SNP:promoter: -579G>T(human) RGD PMID:24260492 RGD:9589098 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,356 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Thymoma ClinVar PMID:20859122 PMID:24224811 PMID:25157968 PMID:26619011 PMID:31775759 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,287 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP 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 4:54,657,957...54,740,715
Ensembl chr 4:54,657,918...54,740,715 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Thymoma ClinVar PMID:20859122 PMID:24224811 PMID:25157968 PMID:26619011 PMID:31775759 NCBI chr11:518,967...554,916
Ensembl chr11:537,527...554,912 		JBrowse link
G PBRM1 polybromo 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917 		JBrowse link
G TP53 tumor protein p53 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19890
    disease of anatomical entity 18505
      endocrine system disease 5946
        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 19890
    disease of anatomical entity 18505
      Immune & Inflammatory Diseases 3642
        immune system disease 3048
          lymphatic system disease 1242
            thymus gland disease 10
              ectopic thymus 0
              thymic dysplasia 0
              thymus cancer + 10
              thymus lipoma 0
paths to the root