Disease table of MYELOFIBROSIS OMIM ID: 254450

Gene-disease associations table

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Gene	Associated with MYELOFIBROSIS in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
CALR	OMIM	HGNC link	19p13.13	2	PS187950, 254450
JAK2	OMIM	HGNC link	9p24.1	5	263300, 601626, 254450, PS133100, PS187950
MPL	OMIM, HUMSAVAR	HGNC link	1p34.2	3	PS187950, 254450, 604498
SH2B3	OMIM	HGNC link	12q24.12	3	PS187950, 254450, PS133100

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Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

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regulated gene	associated to this disease	# TFs	TFs
CALR	YES	1	MEF2C
JAK2	YES	3	BRCA1, STAT3, STAT1
MPL	YES	4	GATA1, RUNX1, FLI1, PLAGL2

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Interactions from BIOGRID - physical

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
CALR	JAK2	No	5	SLC2A1, TSHR, EGFR, HSP90AB1, RCN1
CALR	SH2B3	No	2	ELAVL1, EGFR
JAK2	MPL	No	1	SOCS1
JAK2	SH2B3	No	5	EGFR, ERBB2, ERBB3, PLCG1, GRB2

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

Interactions from BIOGRID - genetic

Interactions from STRING

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Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
JAK2	MPL	Yes	activation, binding	57	PLCG1, 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
JAK2	SH2B3	Yes	binding	8	KIT, KITLG, LCK, SH2B1, SOCS3, EPO, GRB2, EPOR
CALR	JAK2	No	-	4	UBC, ITGA3, INSR, HSP90AA1
MPL	SH2B3	No	-	4	EPO, GRB2, SOCS3, JAK2

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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 term	KEGG term ID	IC	Number of genes with the same term	Genes
Jak-STAT signaling pathway	hsa04630	5.44	2	JAK2, MPL

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Allograft rejection (hsa05330)	NEW	6.91	0.043	CALR, JAK2

REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

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REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Factors involved in megakaryocyte development and platelet production	R-HSA-983231	5.88	2	SH2B3, JAK2
Platelet activation, signaling and aggregation	R-HSA-76002	5.15	2	JAK2, MPL
Signaling by SCF-KIT	R-HSA-1433557	4.73	2	SH2B3, JAK2
Hemostasis	R-HSA-109582	3.98	3	SH2B3, JAK2, MPL
Immune System	R-HSA-168256	2.37	2	CALR, JAK2
Signal Transduction	R-HSA-162582	1.78	2	SH2B3, JAK2

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GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
hormone receptor binding (GO:0051427)	4.57	2	CALR, JAK2
receptor binding (GO:0005102)	2.43	2	CALR, JAK2
signal transducer activity (GO:0004871)	2.28	2	SH2B3, MPL
enzyme binding (GO:0019899)	2.27	2	CALR, JAK2
carbohydrate derivative binding (GO:0097367)	2.03	2	CALR, JAK2
metal ion binding (GO:0046872)	1.41	2	CALR, JAK2
cation binding (GO:0043169)	1.4	2	CALR, JAK2
ion binding (GO:0043167)	1.36	2	CALR, JAK2
heterocyclic compound binding (GO:1901363)	1.06	2	CALR, JAK2
organic cyclic compound binding (GO:0097159)	1.05	2	CALR, JAK2

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NET-GE enrichment

Term	New enriched term	IC	P value	Genes
hormone receptor binding (GO:0051427)	-	4.57	0.041	CALR, JAK2

GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
corticosteroid receptor signaling pathway (GO:0031958)	7.43	2	CALR, JAK2
intracellular steroid hormone receptor signaling pathway (GO:0030518)	5.47	2	CALR, JAK2
positive regulation of cell-substrate adhesion (GO:0010811)	5.11	2	CALR, JAK2
steroid hormone mediated signaling pathway (GO:0043401)	4.9	2	CALR, JAK2
protein localization to nucleus (GO:0034504)	4.9	2	CALR, JAK2
hormone-mediated signaling pathway (GO:0009755)	4.66	2	CALR, JAK2
intracellular receptor signaling pathway (GO:0030522)	4.6	2	CALR, JAK2
regulation of cell-substrate adhesion (GO:0010810)	4.56	2	CALR, JAK2
blood coagulation (GO:0007596)	4.52	2	SH2B3, JAK2
coagulation (GO:0050817)	4.51	2	SH2B3, JAK2

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
corticosteroid receptor signaling pathway (GO:0031958)	-	7.43	0.001	CALR, JAK2
blood coagulation (GO:0007596)	-	4.52	0.042	CALR, SH2B3, JAK2, MPL
coagulation (GO:0050817)	-	4.51	0.042	CALR, SH2B3, MPL, JAK2
hemostasis (GO:0007599)	-	4.5	0.043	CALR, SH2B3, MPL, JAK2

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GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
cell surface (GO:0009986)	3.44	2	CALR, MPL
organelle lumen (GO:0043233)	3.05	2	CALR, JAK2
membrane-enclosed lumen (GO:0031974)	3.05	2	CALR, JAK2
intracellular organelle lumen (GO:0070013)	3.05	2	CALR, JAK2
Golgi apparatus (GO:0005794)	2.7	2	CALR, MPL
intracellular (GO:0005622)	2.37	2	CALR, SH2B3
plasma membrane part (GO:0044459)	1.95	3	CALR, JAK2, MPL
cytosol (GO:0005829)	1.68	3	CALR, SH2B3, JAK2
integral component of membrane (GO:0016021)	1.14	2	CALR, MPL
intrinsic component of membrane (GO:0031224)	1.13	2	CALR, MPL

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