Subtype of: Systemic mastocytosis

Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease	MONDO_0020332	ARID1A	Unknown	33327223	Open Targets	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		ASXL1	Unknown	24465546 22905207 30373888	Open Targets	Polycomb repressive complex UCH proteinases
		CBL	Unknown	22905207	Open Targets	ErbB signaling pathway Ubiquitin mediated proteolysis Endocytosis +22 more
		CLIP1	Unknown	25615281	Open Targets	mTOR signaling pathway Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids +5 more
		DNMT3A	Unknown	22905207	Open Targets	Cysteine and methionine metabolism Metabolic pathways Efferocytosis +3 more
		ETNK1	Unknown	25615281	Open Targets	Glycerophospholipid metabolism Metabolic pathways Synthesis of PE
		ETV6	Unknown	21233837	Open Targets	Transcriptional misregulation in cancer Signaling by membrane-tethered fusions of PDGFRA or PDGFRB
		EZH2	Unknown	25615281	Open Targets	Lysine degradation Metabolic pathways Polycomb repressive complex +7 more
		FAT4	Unknown	25615281	Open Targets	Hippo signaling pathway - multiple species
		IDH2	Unknown	34434337	Open Targets	Citrate cycle (TCA cycle) Glutathione metabolism Metabolic pathways +7 more
		JAK2	Unknown	22608575 23958953 19262599 15920007 18165278 23074272	Open Targets	EGFR tyrosine kinase inhibitor resistance Chemokine signaling pathway Hormone signaling +51 more
		KIT	Unknown	21134978 19729359 16506600 20112369 23958953 19262599 25034364 18165278 12842979 33327223 9768597 12676775 19034614 23074272 30573779 20471335 34434337 15371947 37663152 21866466 17976525 25615281 11040941 15160946 21233837 9858225 39621254 16844528 16111540 15920007 17451799 12701114 22905207 12363464 20153505 30304655 14990611 15166264 24465546 9827716 10706069 18986703 7479840 15257945 12519307 16400343 16741248 16505276 10792276 22608575 21354053 10468886 19669220 11074560 22238327 22847983 20061010 15507672	Open Targets	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +15 more
		KRAS	Unknown	30573779	Open Targets	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +134 more
		LOC100506403	Unknown	30373888	Open Targets	—
		MPL	Unknown	19433805	Open Targets	Cytokine-cytokine receptor interaction Hormone signaling JAK-STAT signaling pathway
		NPM1	Unknown	21233837	Open Targets	Nuclear import of Rev protein SUMOylation of transcription cofactors Deposition of new CENPA-containing nucleosomes at the centromere +2 more
		NRAS	Unknown	23074272 21134978	Open Targets	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +130 more
		PDGFRB	Unknown	21233837	Open Targets	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +22 more
		PHF6	Unknown	37663152	Open Targets	ATP-dependent chromatin remodeling
		PPM1D	Unknown	37663152	Open Targets	p53 signaling pathway Transcriptional regulation by RUNX2
		SF3B1	Unknown	30573779	Open Targets	Spliceosome B-WICH complex positively regulates rRNA expression mRNA Splicing - Major Pathway +1 more
		SRSF2	Unknown	30373888 24389310	Open Targets	Spliceosome Herpes simplex virus 1 infection Transport of Mature mRNA derived from an Intron-Containing Transcript +4 more
		STAT5B	Unknown	30573779	Open Targets	ErbB signaling pathway Chemokine signaling pathway Hormone signaling +28 more
		TET2	Unknown	23074272 19262599 21057493 30304655 24465546 30373888 22905207 37663152 30573779	Open Targets	—
		TRIM24	Unknown	25615281	Open Targets	Signaling by cytosolic FGFR1 fusion mutants Signaling by FGFR1 in disease Signaling by BRAF and RAF fusions
		U2AF1	Unknown	22238327 30304655	Open Targets	Spliceosome Shigellosis Transport of Mature mRNA derived from an Intron-Containing Transcript +3 more
		XPC	Unknown	25615281	Open Targets	Nucleotide excision repair SUMOylation of DNA damage response and repair proteins DNA Damage Recognition in GG-NER +1 more

Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

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