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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:acute promyelocytic leukemia
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Accession:DOID:0060318 term browser browse the term
Definition:An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. (DO)
Synonyms:exact_synonym: AML M3;   APL;   M3 ANLL;   acute myeloblastic leukaemia type 3;   acute myeloblastic leukemia type 3;   acute myeloid leukaemia M3;   acute myeloid leukemia, M3;   acute promyelocytic leukaemia;   acute promyelocytic leukemias;   progranulocytic leukemia
 related_synonym: DNA TOPOISOMERASE II, RESISTANCE TO INHIBITION OF, BY AMSACRINE
 primary_id: MESH:D015473
 alt_id: OMIM:612376
 xref: EFO:0000224;   GARD:538;   ICD10CM:C92.4;   NCI:C3182;   ORDO:520


show annotations for term's descendants           Sort by:
acute promyelocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12556562 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Aqp9 aquaporin 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23563754 NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395 		JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26285909 NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538 		JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27770503 NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380 		JBrowse link
G Cd44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16208414 PMID:17349212 NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620 		JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B disease_progression ISO DNA:hyprmethylation:promoter: RGD PMID:12750706 RGD:11252187 NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050 		JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16788101 PMID:26285909 NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412 		JBrowse link
G Cebpe CCAAT/enhancer binding protein epsilon ISO CTD Direct Evidence: therapeutic CTD PMID:16788101 NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814 		JBrowse link
G Dapk2 death-associated protein kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28978663 NCBI chr 8:66,706,536...66,825,567
Ensembl chr 8:66,706,609...66,825,567 		JBrowse link
G Defa11 defensin alpha 11 ISO CTD Direct Evidence: therapeutic CTD PMID:16019513 NCBI chr16:70,533,436...70,535,592
Ensembl chr16:70,533,436...70,535,604 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26285909 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16206674 PMID:10726043 RGD:11340216 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668 		JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17454189 PMID:24160850 PMID:26285909 NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474 		JBrowse link
G Fndc3b fibronectin type III domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:28314734 NCBI chr 2:110,311,439...110,617,504
Ensembl chr 2:110,312,694...110,547,830 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23867347 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23867347 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Gphn gephyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:21875282 RGD:10755406 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26285909 NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26285909 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:22617429 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il17a interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22617429 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: Acute promyelocytic leukemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963 		JBrowse link
G Irf2bp2 interferon regulatory factor 2 binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25583766 NCBI chr19:54,559,417...54,565,096
Ensembl chr19:54,560,128...54,566,642 		JBrowse link
G Itgal integrin subunit alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:16764927 NCBI chr 1:181,918,183...181,955,735
Ensembl chr 1:181,918,183...181,955,732 		JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:16764927 NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503 		JBrowse link
G Itgax integrin subunit alpha X ISO CTD Direct Evidence: marker/mechanism CTD PMID:16764927 NCBI chr 1:182,709,653...182,740,709
Ensembl chr 1:182,719,609...182,740,698 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16764927 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26285909 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Kmt2e lysine methyltransferase 2E severity ISO mRNA:decreased expression:peripheral blood, bone marrow, mononuclear cells (human) RGD PMID:24796963 RGD:9588539 NCBI chr 4:11,658,218...11,727,373
Ensembl chr 4:11,658,979...11,727,373 		JBrowse link
G Lat2 linker for activation of T cells family, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32587277 NCBI chr12:22,104,173...22,118,294
Ensembl chr12:22,104,219...22,118,288 		JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Ltc4s leukotriene C4 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651 		JBrowse link
G Me1 malic enzyme 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr 8:87,549,043...87,660,251
Ensembl chr 8:87,549,043...87,660,304 		JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr13:96,362,810...96,397,284 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor onset ISO mRNA:increased expression:promyelocyte: RGD PMID:21059853 PMID:21059853 RGD:11532756, RGD:11532756 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:24296270 RGD:40907062 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014 		JBrowse link
G Npm1 nucleophosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:14508522 PMID:26285909 PMID:15659732 RGD:1600902 NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26285909 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Acute promyelocytic leukemia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855 		JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:leukocyte (human) RGD PMID:10861807 RGD:11541060 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Pml PML nuclear body scaffold ISO human PML/RARA gene fusion in a mouse model
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:8616088 PMID:10742073 PMID:14706140 PMID:16788101 PMID:16835227 More... RGD:41404695 NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Pramex1 PRAME like, X-linked 1 severity ISO mRNA:increased expression:bone marrow (human) RGD PMID:18815192 RGD:11535037 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17712046 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32417439 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rap1gap Rap1 GTPase-activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22614916 NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253 		JBrowse link
G Rara retinoic acid receptor, alpha ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
RGD		 PMID:8616088 PMID:10742073 PMID:14508522 PMID:14706140 PMID:16239915 More... RGD:1600902 NCBI chr10:83,883,490...83,928,932
Ensembl chr10:83,893,384...83,928,142 		JBrowse link
G Retn resistin ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620 		JBrowse link
G Rock1 Rho-associated coiled-coil containing protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32417439 NCBI chr18:1,114,532...1,236,345
Ensembl chr18:1,115,905...1,235,571 		JBrowse link
G Slit2 slit guidance ligand 2 ISO CTD Direct Evidence: therapeutic CTD PMID:33120864 NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23867347 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26285909 NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16206674 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Tmem127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Acute promyelocytic leukemia ClinVar PMID:25741868 PMID:28492532 PMID:32575117 NCBI chr 3:114,466,095...114,478,894
Ensembl chr 3:114,466,171...114,477,519 		JBrowse link
G Top2a DNA topoisomerase II alpha ISO ClinVar Annotator: match by term: Dna topoisomerase II, resistance to inhibition of, by amsacrine ClinVar PMID:1651812 NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874 		JBrowse link
G Trib3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32929351 NCBI chr 3:140,809,634...140,815,230
Ensembl chr 3:140,809,043...140,814,497 		JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26285909 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
G Zbtb16 zinc finger and BTB domain containing 16 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23208507 PMID:8387545 RGD:1599922 NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7692
      Neoplasms by Histologic Type 5288
        leukemia 627
          myeloid leukemia 418
            acute myeloid leukemia 346
              acute promyelocytic leukemia 61
                acute promyelocytic leukemia with PML-RARA 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3850
        hematopoietic system disease 3340
          Hematologic Neoplasms 1052
            hematologic cancer 1052
              leukemia 627
                myeloid leukemia 418
                  acute myeloid leukemia 346
                    acute promyelocytic leukemia 61
                      acute promyelocytic leukemia with PML-RARA 0
paths to the root