Disease table of MYELOFIBROSIS OMIM ID: 254450

Gene-disease associations table

GeneAssociated with MYELOFIBROSIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
CALROMIMHGNC link19p13.132PS187950, 254450
JAK2OMIMHGNC link9p24.15263300, 601626, 254450, PS133100, PS187950
MPLOMIM, HUMSAVARHGNC link1p34.23PS187950, 254450, 604498
SH2B3OMIMHGNC link12q24.123PS187950, 254450, PS133100

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
CALRYES1MEF2C0
JAK2YES3BRCA1, STAT3, STAT10
MPLYES4GATA1, RUNX1, FLI1, PLAGL20
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
CALRJAK2No5SLC2A1, TSHR, EGFR, HSP90AB1, RCN1
CALRSH2B3No2ELAVL1, EGFR
JAK2MPLNo1SOCS1
JAK2SH2B3No5EGFR, ERBB2, ERBB3, PLCG1, GRB2

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
CALRJAK2No-4UBC, ITGA3, INSR, HSP90AA1
JAK2MPLYesactivation, binding57PLCG1, OSM, PRL, IL12A, IFNA5, IFNG, EPO, JAK1, THPO, SOCS2, IL24, CSF2, IL7, IFNA14, IL4, GH1, SOCS4, IL6, PIK3CA, SOCS3, IFNA17, IFNA10, IFNA7, SOS1, IFNA2, SHC1, IL11, IL19, IFNA21, STAT5A, IFNB1, IFNA1, IL2, CSH2, CSF3, IFNA6, STAT5B, IFNA13, CSH1, CBLB, SOCS1, IFNA4, IFNA16, STAT3, GH2, SOCS7, IL3, IL23A, SOCS5, CBLC, IL5, PIK3R1, IFNA8, TYK2, GRB2, LEP, CBL
JAK2SH2B3Yesbinding8KIT, KITLG, LCK, SH2B1, SOCS3, EPO, GRB2, EPOR
MPLSH2B3No-4EPO, GRB2, SOCS3, JAK2

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Jak-STAT signaling pathwayhsa046305.442JAK2, MPL

NET-GE enrichment

Term New enriched termICP valueGenes
Allograft rejection (hsa05330) NEW6.910.043CALR, JAK2
REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
HemostasisR-HSA-1095823.983SH2B3, JAK2, MPL
Factors involved in megakaryocyte development and platelet productionR-HSA-9832315.882SH2B3, JAK2
Immune SystemR-HSA-1682562.372CALR, JAK2
Platelet activation, signaling and aggregationR-HSA-760025.152JAK2, MPL
Signal TransductionR-HSA-1625821.782SH2B3, JAK2
Signaling by SCF-KITR-HSA-14335574.732SH2B3, JAK2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.184CALR, SH2B3, JAK2, MPL
protein binding (GO:0005515) 0.464CALR, SH2B3, JAK2, MPL
cation binding (GO:0043169) 1.42CALR, JAK2
carbohydrate derivative binding (GO:0097367) 2.032CALR, JAK2
organic cyclic compound binding (GO:0097159) 1.052CALR, JAK2
enzyme binding (GO:0019899) 2.272CALR, JAK2
ion binding (GO:0043167) 1.362CALR, JAK2
signal transducer activity (GO:0004871) 2.282SH2B3, MPL
hormone receptor binding (GO:0051427) 4.572CALR, JAK2
receptor binding (GO:0005102) 2.432CALR, JAK2
metal ion binding (GO:0046872) 1.412CALR, JAK2
heterocyclic compound binding (GO:1901363) 1.062CALR, JAK2

NET-GE enrichment

Term New enriched termICP valueGenes
hormone receptor binding (GO:0051427) -4.570.041CALR, JAK2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
regulation of cellular process (GO:0050794) 0.54CALR, SH2B3, JAK2, MPL
biological regulation (GO:0065007) 0.394CALR, SH2B3, JAK2, MPL
regulation of biological process (GO:0050789) 0.454CALR, SH2B3, JAK2, MPL
single-organism process (GO:0044699) 0.484CALR, SH2B3, JAK2, MPL
signal transduction (GO:0007165) 1.284CALR, SH2B3, JAK2, MPL
developmental process (GO:0032502) 1.363CALR, SH2B3, JAK2
cell differentiation (GO:0030154) 2.143CALR, SH2B3, JAK2
regulation of cell communication (GO:0010646) 1.733CALR, SH2B3, JAK2
regulation of signal transduction (GO:0009966) 1.843CALR, SH2B3, JAK2
cellular developmental process (GO:0048869) 1.823CALR, SH2B3, JAK2
positive regulation of response to stimulus (GO:0048584) 2.183CALR, SH2B3, JAK2
regulation of response to stimulus (GO:0048583) 1.543CALR, SH2B3, JAK2
single-organism developmental process (GO:0044767) 1.493CALR, SH2B3, JAK2
single-organism cellular process (GO:0044763) 0.653CALR, SH2B3, JAK2
regulation of signaling (GO:0023051) 1.723CALR, SH2B3, JAK2
positive regulation of biological process (GO:0048518) 1.23CALR, SH2B3, JAK2
cellular process (GO:0009987) 0.263CALR, SH2B3, JAK2
regulation of biological quality (GO:0065008) 1.683CALR, SH2B3, JAK2
positive regulation of cellular process (GO:0048522) 1.33CALR, SH2B3, JAK2
nuclear transport (GO:0051169) 4.22CALR, JAK2
protein localization (GO:0008104) 2.362CALR, JAK2
hemostasis (GO:0007599) 4.52SH2B3, JAK2
cytokine-mediated signaling pathway (GO:0019221) 3.62JAK2, MPL
regulation of metabolic process (GO:0019222) 1.022CALR, JAK2
regulation of transport (GO:0051049) 2.242CALR, JAK2
blood coagulation (GO:0007596) 4.522SH2B3, JAK2
calcium ion homeostasis (GO:0055074) 3.972CALR, JAK2
cell surface receptor signaling pathway (GO:0007166) 2.092JAK2, MPL
inorganic ion homeostasis (GO:0098771) 3.432CALR, JAK2
cellular component organization or biogenesis (GO:0071840) 1.222CALR, JAK2
regulation of primary metabolic process (GO:0080090) 1.082CALR, JAK2
hormone-mediated signaling pathway (GO:0009755) 4.662CALR, JAK2
cellular response to stimulus (GO:0051716) 1.972CALR, JAK2
positive regulation of macromolecule metabolic process (GO:0010604) 1.812CALR, JAK2
positive regulation of cell adhesion (GO:0045785) 3.792CALR, JAK2
positive regulation of signal transduction (GO:0009967) 2.52SH2B3, JAK2
negative regulation of biological process (GO:0048519) 1.332CALR, JAK2
macromolecule localization (GO:0033036) 2.342CALR, JAK2
ion homeostasis (GO:0050801) 3.422CALR, JAK2
regulation of cell proliferation (GO:0042127) 2.412CALR, JAK2
positive regulation of transport (GO:0051050) 2.92CALR, JAK2
regulation of macromolecule metabolic process (GO:0060255) 1.082CALR, JAK2
establishment of protein localization (GO:0045184) 2.532CALR, JAK2
regulation of RNA biosynthetic process (GO:2001141) 1.552CALR, JAK2
response to organic substance (GO:0010033) 2.22CALR, JAK2
single-multicellular organism process (GO:0044707) 1.782SH2B3, JAK2
protein metabolic process (GO:0019538) 1.452CALR, JAK2
chemical homeostasis (GO:0048878) 2.972CALR, JAK2
immune system process (GO:0002376) 2.292CALR, JAK2
cellular response to stress (GO:0033554) 2.512CALR, JAK2
cellular component assembly (GO:0022607) 2.142CALR, JAK2
corticosteroid receptor signaling pathway (GO:0031958) 7.432CALR, JAK2
positive regulation of metabolic process (GO:0009893) 1.742CALR, JAK2
positive regulation of biosynthetic process (GO:0009891) 2.292CALR, JAK2
metabolic process (GO:0008152) 0.582CALR, JAK2
intracellular signal transduction (GO:0035556) 2.392SH2B3, JAK2
regulation of apoptotic process (GO:0042981) 2.52CALR, JAK2
intracellular protein transport (GO:0006886) 3.22CALR, JAK2
cellular component organization (GO:0016043) 1.242CALR, JAK2
macromolecular complex assembly (GO:0065003) 2.552CALR, JAK2
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432CALR, JAK2
regulation of immune system process (GO:0002682) 2.52CALR, JAK2
cellular protein localization (GO:0034613) 3.112CALR, JAK2
transport (GO:0006810) 1.512CALR, JAK2
regulation of biosynthetic process (GO:0009889) 1.372CALR, JAK2
response to stress (GO:0006950) 1.82CALR, JAK2
coagulation (GO:0050817) 4.512SH2B3, JAK2
regulation of multicellular organismal process (GO:0051239) 1.872CALR, JAK2
establishment of localization (GO:0051234) 1.482CALR, JAK2
intracellular transport (GO:0046907) 2.672CALR, JAK2
response to stimulus (GO:0050896) 1.222CALR, JAK2
cellular macromolecule localization (GO:0070727) 3.12CALR, JAK2
regulation of transcription, DNA-templated (GO:0006355) 1.562CALR, JAK2
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392CALR, JAK2
regulation of macromolecule biosynthetic process (GO:0010556) 1.432CALR, JAK2
regulation of cell motility (GO:2000145) 3.162CALR, JAK2
positive regulation of cell motility (GO:2000147) 3.742CALR, JAK2
regulation of nitrogen compound metabolic process (GO:0051171) 1.362CALR, JAK2
positive regulation of response to external stimulus (GO:0032103) 4.172CALR, JAK2
regulation of response to external stimulus (GO:0032101) 3.062CALR, JAK2
regulation of cell adhesion (GO:0030155) 3.272CALR, JAK2
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292CALR, JAK2
positive regulation of signaling (GO:0023056) 2.412SH2B3, JAK2
steroid hormone mediated signaling pathway (GO:0043401) 4.92CALR, JAK2
positive regulation of cell communication (GO:0010647) 2.412SH2B3, JAK2
divalent inorganic cation homeostasis (GO:0072507) 3.92CALR, JAK2
cellular divalent inorganic cation homeostasis (GO:0072503) 3.962CALR, JAK2
establishment of localization in cell (GO:0051649) 2.472CALR, JAK2
intracellular steroid hormone receptor signaling pathway (GO:0030518) 5.472CALR, JAK2
negative regulation of multicellular organismal process (GO:0051241) 2.842CALR, JAK2
regulation of protein metabolic process (GO:0051246) 1.932CALR, JAK2
positive regulation of cell proliferation (GO:0008284) 3.012CALR, JAK2
multicellular organismal process (GO:0032501) 1.452SH2B3, JAK2
regulation of body fluid levels (GO:0050878) 3.762SH2B3, JAK2
positive regulation of cellular component movement (GO:0051272) 3.712CALR, JAK2
cellular metal ion homeostasis (GO:0006875) 3.752CALR, JAK2
cellular calcium ion homeostasis (GO:0006874) 4.012CALR, JAK2
cellular ion homeostasis (GO:0006873) 3.572CALR, JAK2
positive regulation of cell differentiation (GO:0045597) 3.012CALR, JAK2
regulation of cell differentiation (GO:0045595) 2.422CALR, JAK2
regulation of locomotion (GO:0040012) 3.122CALR, JAK2
cellular cation homeostasis (GO:0030003) 3.62CALR, JAK2
cation homeostasis (GO:0055080) 3.462CALR, JAK2
cellular chemical homeostasis (GO:0055082) 3.42CALR, JAK2
regulation of localization (GO:0032879) 1.942CALR, JAK2
regulation of cellular protein metabolic process (GO:0032268) 1.992CALR, JAK2
regulation of RNA metabolic process (GO:0051252) 1.522CALR, JAK2
macromolecule metabolic process (GO:0043170) 0.832CALR, JAK2
protein localization to organelle (GO:0033365) 3.572CALR, JAK2
protein localization to nucleus (GO:0034504) 4.92CALR, JAK2
cellular homeostasis (GO:0019725) 3.232CALR, JAK2
positive regulation of cellular biosynthetic process (GO:0031328) 2.32CALR, JAK2
macromolecular complex subunit organization (GO:0043933) 2.142CALR, JAK2
regulation of cellular biosynthetic process (GO:0031326) 1.382CALR, JAK2
positive regulation of cellular metabolic process (GO:0031325) 1.812CALR, JAK2
regulation of cellular metabolic process (GO:0031323) 1.072CALR, JAK2
homeostatic process (GO:0042592) 2.612CALR, JAK2
cellular macromolecular complex assembly (GO:0034622) 3.182CALR, JAK2
regulation of cell death (GO:0010941) 2.432CALR, JAK2
intracellular receptor signaling pathway (GO:0030522) 4.62CALR, JAK2
protein complex subunit organization (GO:0071822) 2.62CALR, JAK2
response to lipid (GO:0033993) 3.112CALR, JAK2
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462CALR, JAK2
organic substance metabolic process (GO:0071704) 0.632CALR, JAK2
regulation of programmed cell death (GO:0043067) 2.492CALR, JAK2
organic substance transport (GO:0071702) 2.152CALR, JAK2
regulation of gene expression (GO:0010468) 1.372CALR, JAK2
positive regulation of cell migration (GO:0030335) 3.772CALR, JAK2
regulation of cell migration (GO:0030334) 3.232CALR, JAK2
regulation of cell-substrate adhesion (GO:0010810) 4.562CALR, JAK2
positive regulation of cell-substrate adhesion (GO:0010811) 5.112CALR, JAK2
protein complex assembly (GO:0006461) 2.782CALR, JAK2
nucleocytoplasmic transport (GO:0006913) 4.232CALR, JAK2
regulation of nucleic acid-templated transcription (GO:1903506) 1.552CALR, JAK2
metal ion homeostasis (GO:0055065) 3.612CALR, JAK2
response to chemical (GO:0042221) 1.982CALR, JAK2
cellular protein complex assembly (GO:0043623) 3.92CALR, JAK2
localization (GO:0051179) 1.42CALR, JAK2
cellular localization (GO:0051641) 2.322CALR, JAK2
response to oxygen-containing compound (GO:1901700) 2.572CALR, JAK2
primary metabolic process (GO:0044238) 0.692CALR, JAK2
regulation of cellular component movement (GO:0051270) 3.082CALR, JAK2
positive regulation of locomotion (GO:0040017) 3.712CALR, JAK2
anatomical structure development (GO:0048856) 1.582SH2B3, JAK2
protein transport (GO:0015031) 2.622CALR, JAK2
negative regulation of cellular process (GO:0048523) 1.412CALR, JAK2

NET-GE enrichment

Term New enriched termICP valueGenes
blood coagulation (GO:0007596) -4.520.042CALR, SH2B3, JAK2, MPL
corticosteroid receptor signaling pathway (GO:0031958) -7.430.001CALR, JAK2
coagulation (GO:0050817) -4.510.042CALR, SH2B3, MPL, JAK2
hemostasis (GO:0007599) -4.50.043CALR, SH2B3, MPL, JAK2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular part (GO:0044424) 0.284CALR, SH2B3, JAK2, MPL
cytoplasmic part (GO:0044444) 0.824CALR, SH2B3, JAK2, MPL
cell part (GO:0044464) 0.114CALR, SH2B3, JAK2, MPL
intracellular membrane-bounded organelle (GO:0043231) 0.63CALR, JAK2, MPL
plasma membrane part (GO:0044459) 1.953CALR, JAK2, MPL
cytosol (GO:0005829) 1.683CALR, SH2B3, JAK2
membrane (GO:0016020) 0.683CALR, MPL, JAK2
intracellular organelle (GO:0043229) 0.513CALR, JAK2, MPL
membrane part (GO:0044425) 0.953CALR, MPL, JAK2
membrane-bounded organelle (GO:0043227) 0.473CALR, JAK2, MPL
organelle (GO:0043226) 0.43CALR, JAK2, MPL
cytoplasm (GO:0005737) 1.012CALR, JAK2
Golgi apparatus (GO:0005794) 2.72CALR, MPL
organelle lumen (GO:0043233) 3.052CALR, JAK2
integral component of membrane (GO:0016021) 1.142CALR, MPL
membrane-enclosed lumen (GO:0031974) 3.052CALR, JAK2
intracellular (GO:0005622) 2.372CALR, SH2B3
intracellular organelle part (GO:0044446) 0.812CALR, JAK2
intracellular organelle lumen (GO:0070013) 3.052CALR, JAK2
intrinsic component of membrane (GO:0031224) 1.132CALR, MPL
cell surface (GO:0009986) 3.442CALR, MPL
nucleus (GO:0005634) 1.072CALR, JAK2
organelle part (GO:0044422) 0.792CALR, JAK2

NET-GE enrichment

Term New enriched termICP valueGenes
endosome lumen (GO:0031904) NEW6.540.001CALR, JAK2