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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:juvenile myelomonocytic leukemia
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Accession:DOID:0050458 term browser browse the term
Definition:A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes. (DO)
Synonyms:exact_synonym: JMML;   juvenile chronic myelogenous leukemia;   juvenile myelomonocytic leukemias
 narrow_synonym: CMML;   juvenile myelomonocytic leukemia, chronic myelomonocytic
 primary_id: MESH:D054429
 alt_id: OMIM:607785
 xref: EFO:1000309;   GARD:9884;   ICD10CM:C93.3;   NCI:C9233;   ORDO:86834


show annotations for term's descendants           Sort by:
juvenile myelomonocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap12 A kinase anchor protein 12 disease_progression ISO RGD PMID:26891149 RGD:14348967 NCBI chr10:4,216,329...4,309,471
Ensembl chr10:4,216,380...4,309,470 		JBrowse link
G Arhgap26 Rho GTPase activating protein 26 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia		 OMIM
CTD
ClinVar		 PMID:10908648 NCBI chr18:38,734,531...39,509,338
Ensembl chr18:39,126,198...39,509,337
Ensembl chr18:39,126,198...39,509,337 		JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia		 CTD
ClinVar		 PMID:25741868 PMID:26457647 PMID:28492532 PMID:32581362 NCBI chr 2:153,187,750...153,245,927
Ensembl chr 2:153,187,749...153,245,927 		JBrowse link
G Cbl Casitas B-lineage lymphoma ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18698078 PMID:19387008 More... RGD:11038806 NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346 		JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:22315502 PMID:9389708 RGD:10449526 NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493 		JBrowse link
G Dnmt3a DNA methyltransferase 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275 		JBrowse link
G Flt3 FMS-like tyrosine kinase 3 IAGP OMIM:607785 MouseDO NCBI chr 5:147,267,551...147,337,299
Ensembl chr 5:147,267,551...147,337,299 		JBrowse link
G Gata2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr 6:88,170,873...88,184,014
Ensembl chr 6:88,170,873...88,184,014 		JBrowse link
G Jak3 Janus kinase 3 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23832011 PMID:23832011 RGD:11069125 NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
OMIM:607785		 CTD
ClinVar
MouseDO		 PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Nf1 neurofibromin 1 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:607785
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia		 OMIM
CTD
MouseDO
ClinVar		 PMID:190611 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1757093 More... NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Nras neuroblastoma ras oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia		 CTD
ClinVar		 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3122217 More... NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO
IAGP		 ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:multiple (human)
OMIM:607785		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... RGD:11066398 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Rac2 Rac family small GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457648 NCBI chr15:78,443,369...78,456,983
Ensembl chr15:78,443,367...78,456,983 		JBrowse link
G Rras related RAS viral (r-ras) oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr 7:44,665,686...44,671,070
Ensembl chr 7:44,667,385...44,671,071 		JBrowse link
G Rras2 related RAS viral (r-ras) oncogene 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr 7:113,646,017...113,717,016
Ensembl chr 7:113,646,017...113,717,016 		JBrowse link
G Runx1 runt related transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037 		JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23832011 PMID:26457647 NCBI chr18:78,793,593...79,153,659
Ensembl chr18:78,793,595...79,152,606 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr 5:121,953,544...121,975,706
Ensembl chr 5:121,953,551...121,975,709 		JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr  X:162,719,268...162,741,662
Ensembl chr  X:162,718,439...162,741,657 		JBrowse link
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Casitas B-lineage lymphoma ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More... NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia ClinVar PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:15121796 More... NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      hematopoietic system disease 3272
        bone marrow disease 762
          myelodysplastic/myeloproliferative neoplasm 30
            juvenile myelomonocytic leukemia 21
              Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia 2
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      Hemic and Lymphatic Diseases 3775
        hematopoietic system disease 3272
          Hematologic Neoplasms 1014
            Bone Marrow Neoplasms 495
              bone marrow cancer 495
                myeloid neoplasm 311
                  myelodysplastic/myeloproliferative neoplasm 30
                    juvenile myelomonocytic leukemia 21
                      Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia 2
paths to the root