Term: Myeloproliferative disorder
Accession: HP:0005547
browse the term
Definition: Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.
Comment: There are four main myeloproliferative disroders, 1) chronic myelogenous leukemia (CML); 2) Polycythemia vera; 3) Essential thrombocytosis; and 4) Myelofibrosis.
Synonyms: xref: EFO:0004251 ; SNOMEDCT_US:414794006; SNOMEDCT_US:425333006; UMLS:C0027022
G
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase
IAGP
HPO
ORPHA:521
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
G
ALAD
aminolevulinate dehydratase
IAGP
HPO
ORPHA:100924
NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290
G
ASXL1
ASXL transcriptional regulator 1
IAGP
HPO
ORPHA:98849
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
G
BCR
BCR activator of RhoGEF and GTPase
IAGP
HPO
ORPHA:521
NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
G
CALR
calreticulin
IAGP
HPO
MIM:254450
NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
G
CBL
Cbl proto-oncogene
IAGP
ClinVar Annotator: match by term: Myeloproliferative disorder
ClinVar
PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 PMID:20619389 PMID:20694012 PMID:20951944 PMID:21828135 PMID:22190897 PMID:22246246 PMID:22733026 PMID:23010802 PMID:23690417 PMID:25178484 PMID:25224413 PMID:25741868 PMID:25952305 PMID:27069254 PMID:28492532 PMID:29296819 PMID:33318624 PMID:33627783 More...
NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
G
CSF1R
colony stimulating factor 1 receptor
IAGP
ClinVar Annotator: match by term: Myeloproliferative disorder
ClinVar
NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
G
DNMT3A
DNA methyltransferase 3 alpha
IAGP
ClinVar Annotator: match by term: Myeloproliferative disorder
ClinVar
PMID:25363760 PMID:25741868 PMID:29900417 PMID:30478443 PMID:32581362 PMID:33238114 PMID:34315901 More...
NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
G
GATA2
GATA binding protein 2
IAGP
HPO
ORPHA:228423
NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
G
INSL6
insulin like 6
IAGP
ClinVar Annotator: match by term: Myeloproliferative disorder
ClinVar
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16247455 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16762626 PMID:17989398 PMID:18256599 PMID:19036091 PMID:19074595 PMID:19293426 PMID:20703299 PMID:22397670 PMID:23535062 PMID:25043017 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 9:4,991,976...5,185,639
Ensembl chr 9:5,123,880...5,185,647
G
JAK2
Janus kinase 2
severity no_association
IAGP
DNA:missense mutation:cds:p.V617F DNA:SNPs:introns: (rs12343867, rs10974944) DNA:SNP:intron: (rs12342421) ClinVar Annotator: match by term: Myeloproliferative disorder
HPO ClinVar RGD
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16247455 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16762626 PMID:17989398 PMID:18256599 PMID:19036091 PMID:19074595 PMID:19293426 PMID:20703299 PMID:22397670 PMID:23535062 PMID:25043017 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 PMID:15858187 PMID:23845539 PMID:23845539 More...
MIM:254450 , RGD:10449393 , RGD:10449376 , RGD:10449376
NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
G
KIT
KIT proto-oncogene, receptor tyrosine kinase
IAGP
HPO
ORPHA:98849
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
G
MPL
MPL proto-oncogene, thrombopoietin receptor
IAGP
HPO
MIM:254450
NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
G
MTHFR
methylenetetrahydrofolate reductase
IAGP
DNA:SNPs: :677C>T, 1298A>C
RGD
PMID:23107469
RGD:10449419
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
G
PDGFRA
platelet derived growth factor receptor alpha
IAGP
HPO
MIM:607685
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
G
PDGFRB
platelet derived growth factor receptor beta
IAGP
HPO
MIM:131440
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
G
RUNX1
RUNX family transcription factor 1
IAGP
HPO
ORPHA:521
NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
G
SH2B3
SH2B adaptor protein 3
IAGP
HPO
MIM:254450
NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
G
SRSF2
serine and arginine rich splicing factor 2
IAGP
HPO
ORPHA:98849
NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333
G
TET2
tet methylcytosine dioxygenase 2
IAGP
HPO
ORPHA:98849
NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
G
GATA1
GATA binding protein 1
IAGP
ClinVar Annotator: match by term: Transient myeloproliferative syndrome
ClinVar HPO
PMID:27993330
MIM:159595
NCBI chr X:48,786,590...48,794,311
Ensembl chr X:48,786,540...48,794,311
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all