Primary Myelofibrosis Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue. (Human Disease Ontology, DOID_4971)
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Genes

17 genes associated with the Primary Myelofibrosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ASXL1 additional sex combs like transcriptional regulator 1
CALR calreticulin
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
ERCC2 excision repair cross-complementation group 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IL22 interleukin 22
JAK1 Janus kinase 1
JAK2 Janus kinase 2
MPL MPL proto-oncogene, thrombopoietin receptor
MPST mercaptopyruvate sulfurtransferase
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
SF3B1 splicing factor 3b, subunit 1, 155kDa
SRSF2 serine/arginine-rich splicing factor 2
TET2 tet methylcytosine dioxygenase 2
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