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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:adult T-cell leukemia/lymphoma
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Accession:DOID:0050523 term browser browse the term
Definition:A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1 (HTLV-1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. (DO)
Synonyms:exact_synonym: ATLL;   Adult T-cell leukemia/lymphoma (HTLV-1 positive);   HTLV Associated Leukemia Lymphoma;   HTLV I Associated T Cell Leukemia Lymphoma;   HTLV-Associated Leukemia-Lymphomas;   HTLV-I-Associated T-Cell Leukemia-Lymphomas;   acute T-cell leukemia lymphoma, HTLV I associated;   adult T-cell leukemia;   adult T-cell leukemia-lymphomas;   adult T-cell leukemias;   human T lymphotropic virus associated leukemia lymphoma;   human T-cell leukemia lymphoma;   human T-cell leukemia-lymphomas
 primary_id: MESH:D015459
 xref: GARD:13103;   ICD10CM:C91.5

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adult T-cell leukemia/lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc5 baculoviral IAP repeat containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16497974 NCBI chrNW_004936594:2,812,165...2,820,618
Ensembl chrNW_004936594:2,812,238...2,820,636 		JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18688853 NCBI chrNW_004936534:4,707,658...4,871,865
Ensembl chrNW_004936534:4,709,064...4,871,023 		JBrowse link
G Card11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936823:580,438...621,298
Ensembl chrNW_004936823:581,955...621,208 		JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936473:23,321,167...23,323,075 JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936490:15,575,764...15,579,766
Ensembl chrNW_004936490:15,575,764...15,579,757 		JBrowse link
G Cd274 CD274 molecule disease_progression ISO RGD PMID:27418641 RGD:41412177 NCBI chrNW_004936539:132,870...145,288
Ensembl chrNW_004936539:132,868...143,602 		JBrowse link
G Cd28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936631:335,411...363,407
Ensembl chrNW_004936631:335,411...363,407 		JBrowse link
G Cd68 CD68 molecule disease_progression ISO protein:increased expression:lymph node tumor (human) RGD PMID:23557330 RGD:42721976 NCBI chrNW_004936595:858,289...861,131 JBrowse link
G Cd80 CD80 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chrNW_004936536:6,462,080...6,483,450 JBrowse link
G Cd86 CD86 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chrNW_004936536:8,414,491...8,481,712 JBrowse link
G Csnk1a1 casein kinase 1 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936504:5,351,354...5,394,856
Ensembl chrNW_004936504:5,351,029...5,396,034 		JBrowse link
G Csnk2a1 casein kinase 2 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936485:17,966,993...18,021,191 JBrowse link
G Csnk2b casein kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936727:1,857,596...1,862,551
Ensembl chrNW_004936727:1,857,596...1,862,002 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO protein:increased expression:peripheral blood mononuclear cell:
DNA:polymorphism:promoter: -670 G>A(human)		 RGD PMID:7513372 PMID:17962369 RGD:11049147 RGD:11049453 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23797717 PMID:23962110 RGD:38456007 NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308 		JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936679:388,500...588,518
Ensembl chrNW_004936679:387,387...443,880 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936484:6,780,692...6,800,883
Ensembl chrNW_004936484:6,780,692...6,800,966 		JBrowse link
G Gpr183 G protein-coupled receptor 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936472:11,196,567...11,198,890
Ensembl chrNW_004936472:11,186,267...11,198,832 		JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936478:2,970,261...2,980,277
Ensembl chrNW_004936478:2,970,468...2,980,381 		JBrowse link
G Icos inducible T cell costimulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936631:562,650...572,263
Ensembl chrNW_004936631:551,394...570,804 		JBrowse link
G Ifng interferon gamma treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:8800741 PMID:23962110 RGD:10755707 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936586:3,522,614...3,676,070
Ensembl chrNW_004936586:3,525,933...3,674,061 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:8704212 PMID:23962110 RGD:11049460 NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625 		JBrowse link
G Il5 interleukin 5 disease_progression ISO protein:increased expression:serum RGD PMID:16425276 RGD:11354942 NCBI chrNW_004936647:2,647,982...2,651,477
Ensembl chrNW_004936647:2,648,241...2,651,430 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum (human) RGD PMID:10374863 RGD:11060275 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Irf4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936633:1,565,293...1,580,859
Ensembl chrNW_004936633:1,564,637...1,580,859 		JBrowse link
G Jak3 Janus kinase 3 ISO DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) RGD PMID:21821710 RGD:11531131 NCBI chrNW_004936596:3,212,593...3,224,426
Ensembl chrNW_004936596:3,212,593...3,224,048 		JBrowse link
G Myb MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:CD4+ T cell: RGD PMID:27307595 RGD:11532670 NCBI chrNW_004936560:2,797,943...2,828,813
Ensembl chrNW_004936560:2,796,697...2,829,650 		JBrowse link
G Notch1 notch receptor 1 ISO DNA:mutations:multiple (human) RGD PMID:16707600 RGD:1580759 NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428 		JBrowse link
G Nras NRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:21586752 RGD:11535055 NCBI chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590 		JBrowse link
G Plcg1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936561:598,372...631,575
Ensembl chrNW_004936561:598,382...631,581 		JBrowse link
G Prkcb protein kinase C beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936501:8,410,273...8,729,238
Ensembl chrNW_004936501:8,437,715...8,728,716 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24090995 NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402 		JBrowse link
G Terf2 telomeric repeat binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643074 NCBI chrNW_004936475:19,469,501...19,498,494
Ensembl chrNW_004936475:19,468,702...19,498,793 		JBrowse link
G Tlx1 T cell leukemia homeobox 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:1683261 PMID:1717256 RGD:1599439 NCBI chrNW_004936600:4,564,246...4,569,774 JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chrNW_004936487:4,057,637...4,081,207
Ensembl chrNW_004936487:4,057,643...4,081,207 		JBrowse link
G Tp73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936737:171,894...211,464
Ensembl chrNW_004936737:172,467...211,464 		JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chrNW_004936588:4,058,312...4,107,330
Ensembl chrNW_004936588:4,058,343...4,107,109 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease by infectious agent 1965
      viral infectious disease 1499
        adult T-cell leukemia/lymphoma 40
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Hemic and Lymphatic Diseases 3445
        hematopoietic system disease 2990
          Hematologic Neoplasms 926
            hematologic cancer 926
              lymphoma 500
                lymphoid leukemia 262
                  acute leukemia 252
                    acute lymphoblastic leukemia 250
                      T-cell acute lymphoblastic leukemia 80
                        adult T-cell leukemia/lymphoma 40
paths to the root