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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 chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380 		JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18688853 NCBI chr17:26,318,121...26,469,034
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr12:13,620,979...13,758,115
Ensembl chr12:13,621,087...13,758,112 		JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 8:114,176,256...114,182,155
Ensembl chr 8:114,176,974...114,178,056 		JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309 		JBrowse link
G Cd163 CD163 molecule disease_progression ISO protein:increased expression:lymph node tumor (human) RGD PMID:23557330 RGD:42721976 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Cd274 CD274 molecule disease_progression ISO RGD PMID:27418641 RGD:41412177 NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450 		JBrowse link
G Cd28 Cd28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685 		JBrowse link
G Cd68 Cd68 molecule disease_progression ISO protein:increased expression:lymph node tumor (human) RGD PMID:23557330 RGD:42721976 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697 		JBrowse link
G Cd80 Cd80 molecule IMP RGD PMID:10590132 RGD:6902938 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030 		JBrowse link
G Cd86 CD86 molecule IMP RGD PMID:10590132 RGD:6902938 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Csnk1a1 casein kinase 1, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr18:55,017,049...55,050,184
Ensembl chr18:55,017,055...55,049,271 		JBrowse link
G Csnk2a1 casein kinase 2 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696 		JBrowse link
G Csnk2b casein kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:polymorphism:promoter: -670 G>A(human)
protein:increased expression:peripheral blood mononuclear cell:		 RGD PMID:17962369 PMID:7513372 RGD:11049147, RGD:11049453 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23962110 PMID:23797717 RGD:38456007 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr20:42,767,733...42,960,903
Ensembl chr20:42,766,369...42,959,911 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391 		JBrowse link
G Gpr183 G protein-coupled receptor 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr15:99,037,764...99,050,550
Ensembl chr15:99,036,367...99,050,559 		JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249 		JBrowse link
G Icos inducible T-cell co-stimulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672 		JBrowse link
G Ifna1 interferon, alpha 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20370541 NCBI chr 5:103,095,767...103,098,260
Ensembl chr 5:103,097,356...103,097,925 		JBrowse link
G Ifng interferon gamma treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23962110 PMID:8800741 RGD:10755707 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:71,042,440...71,191,296
Ensembl chr 9:71,042,440...71,190,867 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23962110 PMID:8704212 RGD:11049460 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il5 interleukin 5 disease_progression ISO protein:increased expression:serum RGD PMID:16425276 RGD:11354942 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum (human) RGD PMID:10374863 RGD:11060275 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Jak3 Janus kinase 3 ISO DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) RGD PMID:21821710 RGD:11531131 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Myb MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:CD4+ T cell: RGD PMID:27307595 RGD:11532670 NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057 		JBrowse link
G Notch1 notch receptor 1 ISO DNA:mutations:multiple (human) RGD PMID:16707600 RGD:1580759 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Nras NRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:21586752 RGD:11535055 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330 		JBrowse link
G Prkcb protein kinase C, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24090995 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tal2 TAL bHLH transcription factor 2 ISO RGD PMID:1763056 RGD:1599285 NCBI chr 5:68,411,012...68,417,569
Ensembl chr 5:68,411,012...68,417,569 		JBrowse link
G Terf2 telomeric repeat binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643074 NCBI chr19:34,976,963...35,005,813
Ensembl chr19:34,977,471...35,005,819 		JBrowse link
G Tlx1 T-cell leukemia, homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:1717256 PMID:1683261 RGD:1599439 NCBI chr 1:244,005,057...244,011,318
Ensembl chr 1:244,005,057...244,011,318 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:77,253,881...77,277,078
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
G Tp53 tumor protein p53 ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tp73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128 		JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    disease by infectious agent 2200
      viral infectious disease 1666
        adult T-cell leukemia/lymphoma 45
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      Hemic and Lymphatic Diseases 3933
        hematopoietic system disease 3428
          Hematologic Neoplasms 1024
            hematologic cancer 1024
              lymphoma 564
                lymphoid leukemia 290
                  acute leukemia 278
                    acute lymphoblastic leukemia 276
                      T-cell acute lymphoblastic leukemia 93
                        adult T-cell leukemia/lymphoma 45
paths to the root