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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;   ICDO:9946/3;   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 anchoring protein 12 disease_progression ISO RGD PMID:26891149 RGD:14348967 NCBI chr 1:41,614,893...41,712,350
Ensembl chr 1:41,614,714...41,709,798 		JBrowse link
G ARHGAP26 Rho GTPase activating protein 26 ISO ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia OMIM
ClinVar		 PMID:10908648 NCBI chr 2:37,627,448...38,045,589
Ensembl chr 2:37,626,698...38,040,079 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia ClinVar PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr24:21,725,126...21,804,745
Ensembl chr24:21,661,059...21,802,815 		JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18698078 PMID:19387008 More... NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956 		JBrowse link
G CSF2 colony stimulating factor 2 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:9389708 PMID:22315502 RGD:10449526 NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838 		JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 ISO OMIM:607785 MouseDO NCBI chr25:11,551,372...11,670,891
Ensembl chr25:11,581,206...11,692,284 		JBrowse link
G GATA2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr20:2,472,251...2,488,380
Ensembl chr20:2,473,912...2,480,991 		JBrowse link
G JAK3 Janus kinase 3 disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:23832011 RGD:11069125 NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia ClinVar PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 More... NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia OMIM
ClinVar		 PMID:190611 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1757093 More... NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia ClinVar PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3122217 More... NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia OMIM
ClinVar		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		JBrowse link
G RAC2 Rac family small GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457648 NCBI chr10:27,295,597...27,311,864
Ensembl chr10:27,295,640...27,311,397 		JBrowse link
G RRAS RAS related ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr 1:106,895,413...106,899,265
Ensembl chr 1:106,895,408...106,899,222 		JBrowse link
G RRAS2 RAS related 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr21:37,037,576...37,119,733
Ensembl chr21:37,038,334...37,112,662 		JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839 		JBrowse link
G SETBP1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23832011 PMID:26457647 NCBI chr 7:46,020,892...46,378,867
Ensembl chr 7:46,020,889...46,378,005 		JBrowse link
G SH2B3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26457647 NCBI chr26:9,033,851...9,073,095
Ensembl chr26:9,005,281...9,070,204 		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:12,046,163...12,073,617
Ensembl chr  X:12,046,921...12,073,440 		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 Cbl proto-oncogene ISO 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
ClinVar		 PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More... NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956 		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 chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15615
    disease of anatomical entity 15198
      hematopoietic system disease 3191
        bone marrow disease 738
          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 15615
    disease of anatomical entity 15198
      Hemic and Lymphatic Diseases 3685
        hematopoietic system disease 3191
          Hematologic Neoplasms 994
            Bone Marrow Neoplasms 477
              bone marrow cancer 477
                myeloid neoplasm 294
                  myelodysplastic/myeloproliferative neoplasm 30
                    juvenile myelomonocytic leukemia 21
                      Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia 2
paths to the root