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myeloproliferative neoplasm - Ontology Report - Rat Genome Database

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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 myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood. (DO)
Synonyms:exact_synonym: CMPD;   CMPD, U;   Chronic Myeloproliferative Disorder;   Myeloproliferative Neoplasms;   chronic myeloproliferative disease
 narrow_synonym: MYELOPROLIFERATIVE NEOPLASM, UNCLASSIFIABLE
 related_synonym: DDX41-RELATED CONDITION;   MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
 primary_id: MIM:616871
 xref: EFO:0002428;   EFO:0004251;   ICDO:9960/3;   NCI:C4345
For additional species annotation, visit the Alliance of Genome Resources.

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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 3:162,273,828...162,341,742
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 5:143,583,126...143,604,382
Ensembl chr 5:138,301,506...138,317,881 		JBrowse link
G Cux1 cut-like homeobox 1 ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm ClinVar PMID:25741868 NCBI chr12:25,728,393...26,062,497
Ensembl chr12:20,107,311...20,425,866
Ensembl chr 4:20,107,311...20,425,866 		JBrowse link
G Ddx41 DEAD-box helicase 41 susceptibility ISO ClinVar Annotator: match by term: DDX41-related condition | ClinVar Annotator: match by term: Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25920683 PMID:26712909 More... NCBI chr17:9,108,030...9,113,562
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 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992 		JBrowse link
G Itpkb inositol-trisphosphate 3-kinase B ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable ClinVar PMID:25741868 PMID:35101336 NCBI chr13:94,601,072...94,696,180
Ensembl chr13:92,069,216...92,162,004 		JBrowse link
G Jak2 Janus kinase 2 ISS MouseDO NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable ClinVar PMID:10678181 PMID:23460398 PMID:27069254 PMID:28492532 PMID:29872168 More... NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable ClinVar PMID:15472075 PMID:16614245 PMID:19245433 PMID:19635999 PMID:21670202 More... NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable ClinVar PMID:22703879 PMID:22718859 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO
ISS		 DNA:translocation: : MouseDO
RGD		 PMID:12181402 RGD:10450606 NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable ClinVar PMID:25741868 PMID:28492532 PMID:35101336 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable ClinVar PMID:25741868 PMID:28492532 PMID:35101336 NCBI chr 7:9,931,251...9,952,994
Ensembl chr 7:9,280,571...9,302,314 		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 2:224,662,654...224,746,819
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 6:130,286,979...130,357,109
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 6:130,275,631...130,284,968
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 6:130,237,055...130,267,205
Ensembl chr 6:124,472,566...124,502,497 		JBrowse link
G C6h14orf132 similar to human chromosome 14 open reading frame 132 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:124,365,466...124,398,449 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 chr19:40,213,367...40,218,262
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 4:18,209,088...18,302,142
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:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Elane elastase, neutrophil expressed ISO protein:increased expression:plasma: RGD PMID:18768782 RGD:10450556 NCBI chr 7:10,467,877...10,469,725
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 2:122,164,454...122,218,796
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 6:130,357,241...130,373,221
Ensembl chr 6:124,586,070...124,609,100 		JBrowse link
G Jak2 Janus kinase 2 severity ISO
ISS		 DNA:mutation: :p.V617F (human)
OMIM:187950 | OMIM:601977 | OMIM:614521
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:15781101 PMID:15858187 PMID:16484586 PMID:16896569 PMID:19154659 More... RGD:10449178 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO DNA:missense mutation:cds:pS505N (human)
ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1
mRNA, protein:decreased expression:blood, platelet (human)		 ClinVar
RGD		 PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:15269348 More... RGD:10449014, RGD:10449016 NCBI chr 5:137,259,288...137,281,540
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 1:17,759,309...17,793,306
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 chr12:20,759,366...20,780,337
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 7:113,419,882...113,438,343
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: THROMBOCYTOSIS 1 | ClinVar Annotator: match by term: Thrombocythemia 1 OMIM
ClinVar		 PMID:15705783 PMID:20404132 PMID:21990094 PMID:23812944 PMID:24777453 More... NCBI chr12:40,391,755...40,414,336
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 6:129,889,763...129,895,756
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 1:90,324,312...90,340,627
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:16199547 More... RGD:1580083 Ensembl chr11:80,182,820...80,188,167 JBrowse link
G Tunar transmembrane neural differentiation associated intracellular calcium regulator ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:130,011,067...130,058,157 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:serum: RGD PMID:24434346 RGD:11354980 NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:25876231 RGD:11073823 NCBI chr 4:160,042,900...160,177,757
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 ClinVar PMID:25454926 PMID:25741868 PMID:26455322 PMID:28492532 PMID:29226947 More... NCBI chr18:56,770,348...56,809,228
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 8:62,724,939...62,829,040
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 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479 		JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr 4:18,209,088...18,302,142
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 7:10,467,877...10,469,725
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 8:28,765,738...28,770,371
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 chr16:65,185,574...65,228,742
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 2:198,338,005...198,346,007
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 chr10:15,828,291...15,829,138
Ensembl chr10:15,307,815...15,338,392
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 PMID:19429541 PMID:26467025 More... NCBI chr 1:167,662,310...167,663,721
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 chr17:41,841,302...41,849,359
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 Annotator: match by term: Polycythemia vera ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:236,483,530...236,487,065
Ensembl chr 1:227,069,958...227,073,493 		JBrowse link
G Jak2 Janus kinase 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:263300
ClinVar Annotator: match by term: Polycythemia rubra vera | ClinVar Annotator: match by term: Polycythemia vera		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... RGD:1627655 NCBI chr 1:236,408,905...236,468,769
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 ABNORMAL MYELOPOIESIS | ClinVar Annotator: match by term: Transient myeloproliferative syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:24056718 PMID:25741868 PMID:27993330 PMID:28492532 PMID:14636651 RGD:10450612 NCBI chr  X:17,193,291...17,209,462
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:23817177 PMID:28492532 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of cellular proliferation 7891
      cancer 5720
        organ system cancer 5467
          hematologic cancer 1088
            bone marrow cancer 505
              myeloid neoplasm 320
                myeloproliferative neoplasm 46
                  essential thrombocythemia 22
                  myeloproliferative disorder with eosinophilia 1
                  polycythemia vera + 12
                  transient myeloproliferative syndrome 2
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      Hemic and Lymphatic Diseases 4328
        hematopoietic system disease 3837
          Hematologic Neoplasms 1088
            Bone Marrow Neoplasms 505
              bone marrow cancer 505
                myeloid neoplasm 320
                  myeloproliferative neoplasm 46
                    essential thrombocythemia 22
                    myeloproliferative disorder with eosinophilia 1
                    polycythemia vera + 12
                    transient myeloproliferative syndrome 2
paths to the root