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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:myeloproliferative neoplasm
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Accession:DOID:2226 term browser browse the term
Definition:A type of disease in which the bone marrow makes too many red blood cells, platelets, or certain white blood cells.
Synonyms:exact_synonym: CMPD;   CMPD, U;   Chronic Myeloproliferative Disorder;   Myeloproliferative Neoplasms;   chronic myeloproliferative disease
 related_synonym: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
 primary_id: RDO:9000411
 xref: NCI:C4345
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
myeloproliferative neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 ISS MouseDO NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538 		JBrowse link
G Csf3r colony stimulating factor 3 receptor ISO RGD PMID:23897249 RGD:10450501 NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881 		JBrowse link
G Ddx41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to ClinVar PMID:25741868 PMID:25920683 PMID:26712909 PMID:27133828 PMID:27174803 More... NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO DNA:translocation: : RGD PMID:12181402 RGD:10450606 NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992 		JBrowse link
G Jak2 Janus kinase 2 ISS MouseDO NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm ClinVar PMID:16843266 PMID:20372971 PMID:20385788 PMID:22271575 PMID:25157968 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm ClinVar PMID:11208730 PMID:11505412 PMID:15837988 PMID:17259998 PMID:19175693 More... NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm ClinVar PMID:14764528 PMID:18451306 PMID:18528423 PMID:19483125 PMID:19608689 More... NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO
ISS		 DNA:translocation: : MouseDO
RGD		 PMID:12181402 RGD:10450606 NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO DNA:missense mutations: :p.R686S (c.2058A>T), p.L1340P (c.4019T>C), p.H1868R (c.5603A>G) (human) RGD PMID:19564637 RGD:11038680 NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
essential thrombocythemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg2b autophagy related 2B ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015 		JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747 		JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497 		JBrowse link
G Calr calreticulin severity ISO ClinVar Annotator: match by term: Thrombocythemia 1
DNA:mutations:multiple (human)		 OMIM
ClinVar
RGD		 PMID:24325356 PMID:24325359 PMID:25741868 PMID:24496303 PMID:25860380 RGD:11352751, RGD:11352747 NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414 		JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:22196954 RGD:11344979 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cux2 cut-like homeobox 2 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar PMID:20404132 NCBI chr12:34,507,723...34,707,581
Ensembl chr12:34,520,959...34,705,806 		JBrowse link
G Elane elastase, neutrophil expressed ISO protein:increased expression:plasma: RGD PMID:18768782 RGD:10450556 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Gskip GSK3B interacting protein ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100 		JBrowse link
G Jak2 Janus kinase 2 severity ISO DNA:mutation: :p.V617F (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15781101 PMID:15858187 PMID:16484586 PMID:16896569 PMID:19154659 More... RGD:10449178 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G LOC100909954 uncharacterized LOC100909954 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:124,365,466...124,398,449 JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO
ISS		 DNA:missense mutation:cds:pS505N (human)
ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1
OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521
mRNA, protein:decreased expression:blood, platelet (human)		 ClinVar
MouseDO
RGD		 PMID:8073287 PMID:11133753 PMID:14764528 PMID:15269348 PMID:15531462 More... RGD:10449014, RGD:10449016 NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797 		JBrowse link
G Myb MYB proto-oncogene, transcription factor ISS OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 MouseDO NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057 		JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Idiopathic thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1 OMIM
ClinVar		 PMID:15705783 PMID:20404132 PMID:25741868 PMID:27651169 PMID:28484264 More... NCBI chr12:34,749,849...34,753,616
Ensembl chr12:34,731,911...34,753,616 		JBrowse link
G Tcl1a Tcl1 family Akt coactivator A ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Thrombocythemia 1
DNA:mutation:splice junction:		 OMIM
ClinVar
RGD		 PMID:7772529 PMID:9425899 PMID:9694695 PMID:10583217 PMID:19553636 More... RGD:1580083 Ensembl chr11:80,182,820...80,188,167 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:serum: RGD PMID:24434346 RGD:11354980 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:25876231 RGD:11073823 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
myeloproliferative disorder with eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: EOSINOPHILS, MALIGNANT PROLIFERATION OF | ClinVar Annotator: match by term: Myeloproliferative disorder, chronic, with eosinophilia OMIM
ClinVar		 PMID:25454926 PMID:25741868 PMID:26455322 NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
polycythemia vera term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Polycythemia rubra vera ClinVar NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Bcl2l1 Bcl2-like 1 ISO protein:increased expression:bone marrow, erythroid cell (human) RGD PMID:9475763 RGD:11353849 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 		JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Elane elastase, neutrophil expressed ISO
IMP		 protein:increased expression:plasma: RGD PMID:18768782 PMID:12186827 RGD:10450556, RGD:10450557 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Epor erythropoietin receptor ISO mRNA:decreased expression:blood cell: RGD PMID:9207443 RGD:11041603 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:8569275 RGD:11059504 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:22018952 RGD:10450875 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1634355 NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392 		JBrowse link
G Hbb hemoglobin subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HEMOGLOBIN VILLEJUIF		 CTD
ClinVar		 PMID:2816924 PMID:5773089 PMID:11300351 NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hfe homeostatic iron regulator susceptibility
no_association		 ISO DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human)
DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human)		 RGD PMID:19258483 PMID:19258483 RGD:10755491, RGD:10755491 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Polycythemia rubra vera ClinVar PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 More... NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493 		JBrowse link
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: Polycythemia rubra vera ClinVar PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:21436584 More... NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926 		JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Polycythemia rubra vera
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 More... RGD:1627655 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
transient myeloproliferative syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Transient myeloproliferative syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:24056718 PMID:27993330 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 Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Transient myeloproliferative disorder of Down syndrome ClinVar PMID:10068652 PMID:12200707 PMID:15156185 PMID:22012064 PMID:23817177 More... NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of cellular proliferation 7257
      cancer 5223
        organ system cancer 5060
          hematologic cancer 991
            bone marrow cancer 473
              myeloid neoplasm 292
                myeloproliferative neoplasm 42
                  essential thrombocythemia 22
                  myeloproliferative disorder with eosinophilia 1
                  polycythemia vera + 13
                  transient myeloproliferative syndrome 2
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Hemic and Lymphatic Diseases 3149
        hematopoietic system disease 2693
          Hematologic Neoplasms 991
            Bone Marrow Neoplasms 473
              bone marrow cancer 473
                myeloid neoplasm 292
                  myeloproliferative neoplasm 42
                    essential thrombocythemia 22
                    myeloproliferative disorder with eosinophilia 1
                    polycythemia vera + 13
                    transient myeloproliferative syndrome 2
paths to the root