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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 megakaryocytic leukemia
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Accession:DOID:8761 term browser browse the term
Definition:An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers. (DO)
Synonyms:exact_synonym: Acute Megakaryoblastic Leukemias;   Acute Megakaryocytic Leukemias;   Megakaryocytic Leukemias;   acute megakaryoblastic leukaemia, FAB M7;   acute megakaryoblastic leukemia;   acute megakaryoblastic leukemia, FAB M7;   acute myeloid leukemia, M7;   megakaryocytic leukemia;   megakaryocytic myelosis;   thrombocytic leukaemia
 primary_id: MESH:D007947
 xref: GARD:524;   ICD10CM:C94.2;   ICD9CM:207.2;   NCI:C3170
For additional species annotation, visit the Alliance of Genome Resources.



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acute megakaryocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 ISO RGD PMID:21640380 RGD:11081147 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:16166298 NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia ClinVar NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO associated with Down Syndrome;DNA:mutations:multiple (human) RGD PMID:24056718 RGD:10450890 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia ClinVar PMID:15070711 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia ClinVar
RGD
PMID:10982185 PMID:16843266 PMID:18270328 PMID:18397343 PMID:20132407 More... RGD:11531113 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
JBrowse link
G Mdga1 MAM domain containing glycosylphosphatidylinositol anchor 1 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia ClinVar NCBI chr20:7,900,327...7,963,471
Ensembl chr20:7,904,358...7,963,471
JBrowse link
G Mrtfa myocardin related transcription factor A ISO RGD PMID:11431691 RGD:1599948 NCBI chr 7:112,544,312...112,714,431
Ensembl chr 7:112,544,312...112,714,418
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia ClinVar NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
G Pcf11 PCF11 cleavage and polyadenylation factor subunit ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia ClinVar NCBI chr 1:146,694,045...146,724,030
Ensembl chr 1:146,697,646...146,724,124
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO associated with Down Syndrome;mRNA:increased expression:mononuclear cell (human) RGD PMID:15180862 RGD:11535064 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia ClinVar PMID:10848731 PMID:17941496 PMID:20600018 PMID:21194675 PMID:21343951 More... NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Rasal3 RAS protein activator like 3 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia ClinVar NCBI chr 7:11,396,090...11,411,349
Ensembl chr 7:11,396,090...11,411,465
JBrowse link
G Runx1 RUNX family transcription factor 1 onset ISO RGD PMID:15856017 RGD:11251701 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
G Slc9a2 solute carrier family 9 member A2 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia ClinVar NCBI chr 9:42,932,001...43,014,447
Ensembl chr 9:42,931,346...43,014,444
JBrowse link
G Sncb synuclein, beta ISO RGD PMID:21264917 RGD:6478703 NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia ClinVar NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
childhood acute megakaryoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia without down syndrome ClinVar PMID:8506290 PMID:17488692 PMID:27993330 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia without down syndrome ClinVar PMID:27993330 NCBI chr 8:110,511,808...110,597,489
Ensembl chr 8:110,511,772...110,597,489
JBrowse link
myeloid leukemia associated with Down Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctcf CCCTC-binding factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome
CTD
ClinVar
PMID:24056718 PMID:27993330 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
JBrowse link
G Dcaf7 DDB1 and CUL4 associated factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:90,974,095...90,996,275
Ensembl chr10:90,974,095...90,996,275
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Leukemia, megakaryoblastic, of Down syndrome
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome
ClinVar
RGD
PMID:12172547 PMID:27993330 PMID:28492532 PMID:14636651 RGD:10450612 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome ClinVar PMID:27993330 NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
JBrowse link
G Mfsd11 major facilitator superfamily domain containing 11 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome ClinVar PMID:27993330 NCBI chr10:102,055,516...102,075,064
Ensembl chr10:102,056,051...102,075,064
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome
CTD
ClinVar
PMID:2407301 PMID:2674680 PMID:2989702 PMID:8120410 PMID:16291983 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome ClinVar PMID:15384080 PMID:25741868 PMID:27993330 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Rad21 RAD21 cohesin complex component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome
CTD
ClinVar
PMID:24056718 PMID:27993330 NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome ClinVar PMID:27993330 NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
JBrowse link
G Stag2 stromal antigen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr  X:120,974,687...121,105,677
Ensembl chr  X:120,974,857...121,105,677
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056718 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of cellular proliferation 7088
      Neoplasms by Histologic Type 4800
        leukemia 592
          myeloid leukemia 383
            acute myeloid leukemia 310
              acute megakaryocytic leukemia 30
                childhood acute megakaryoblastic leukemia 2
                myeloid leukemia associated with Down Syndrome 13
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      Hemic and Lymphatic Diseases 2394
        hematopoietic system disease 1969
          Hematologic Neoplasms 971
            hematologic cancer 971
              leukemia 592
                myeloid leukemia 383
                  acute myeloid leukemia 310
                    acute megakaryocytic leukemia 30
                      childhood acute megakaryoblastic leukemia 2
                      myeloid leukemia associated with Down Syndrome 13
paths to the root