Subtype of: Myelodysplastic syndrome

Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
myelodysplastic/myeloproliferative neoplasm	MONDO_0006311	ARID1A	Unknown	31366621	Open Targets	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		ASXL1	Unknown	31413051 24030381 27449473 26728869 22489043 37102976 24608733 24854193 30573779 29515765 27029036 31366621 24045501 23300180	Open Targets	Polycomb repressive complex UCH proteinases
		ASXL2	Unknown	37102976 31366621	Open Targets	Polycomb repressive complex UCH proteinases
		ATRX	Unknown	24030381 14592816	Open Targets	Cell cycle
		BCL6	Unknown	31366621	Open Targets	FoxO signaling pathway Transcriptional misregulation in cancer Chemical carcinogenesis - receptor activation +3 more
		BCOR	Unknown	37102976 31366621 26728869	Open Targets	Polycomb repressive complex
		BCORL1	Unknown	26728869	Open Targets	Polycomb repressive complex
		CALR	Unknown	31366621 26728869 27352261	Open Targets	Protein processing in endoplasmic reticulum Phagosome Efferocytosis +14 more
		CBL	Unknown	31366621 23010802 24030381 19074904 23300180	Open Targets	ErbB signaling pathway Ubiquitin mediated proteolysis Endocytosis +22 more
		CCND2	Unknown	31366621	Open Targets	FoxO signaling pathway Cell cycle p53 signaling pathway +18 more
		CDKN1B	Unknown	25516983	Open Targets	Endocrine resistance ErbB signaling pathway HIF-1 signaling pathway +28 more
		CEBPA	Unknown	37102976 31366621	Open Targets	Non-alcoholic fatty liver disease Pathways in cancer Transcriptional misregulation in cancer +3 more
		CREBBP	Unknown	31366621	Open Targets	Polycomb repressive complex Viral life cycle - HIV-1 cAMP signaling pathway +52 more
		CSF3R	Unknown	27029036 31366621	Open Targets	Cytokine-cytokine receptor interaction PI3K-Akt signaling pathway JAK-STAT signaling pathway +3 more
		CUX1	Unknown	37102976	Open Targets	Signaling by cytosolic FGFR1 fusion mutants Signaling by FGFR1 in disease Intra-Golgi traffic
		DDX3X	Unknown	31366621	Open Targets	RIG-I-like receptor signaling pathway Hepatitis B Viral carcinogenesis +1 more
		DNMT3A	Unknown	24030381 26728869 27449473 37102976 24895580 24608733 29515765 23300180	Open Targets	Cysteine and methionine metabolism Metabolic pathways Efferocytosis +3 more
		EED	Unknown	31366621	Open Targets	Polycomb repressive complex PRC2 methylates histones and DNA Oxidative Stress Induced Senescence +4 more
		ETNK1	Unknown	29515765 37102976 31366621	Open Targets	Glycerophospholipid metabolism Metabolic pathways Synthesis of PE
		ETV6	Unknown	37102976 22571758 31366621	Open Targets	Transcriptional misregulation in cancer Signaling by membrane-tethered fusions of PDGFRA or PDGFRB
		EZH2	Unknown	20724984 23010802 26728869 24608733 30573779 27029036 31366621 20601953 23300180	Open Targets	Lysine degradation Metabolic pathways Polycomb repressive complex +7 more
		FBXW7	Unknown	37102976	Open Targets	Ubiquitin mediated proteolysis Constitutive Signaling by NOTCH1 PEST Domain Mutants Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling +3 more
		FLT3	Unknown	31366621 26728869 27449473	Open Targets	MAPK signaling pathway Ras signaling pathway PI3K-Akt signaling pathway +8 more
		GATA1	Unknown	26728869	Open Targets	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 regulates transcription of genes involved in differentiation of HSCs Factors involved in megakaryocyte development and platelet production
		GATA2	Unknown	29515765 31366621	Open Targets	RUNX1 regulates transcription of genes involved in differentiation of HSCs Factors involved in megakaryocyte development and platelet production
		GNAS	Unknown	31366621	Open Targets	Endocrine resistance Rap1 signaling pathway Calcium signaling pathway +58 more
		HLA-A	Unknown	31366621	Open Targets	Endocytosis Phagosome Cellular senescence +25 more
		ID3	Unknown	31366621	Open Targets	TGF-beta signaling pathway Signaling pathways regulating pluripotency of stem cells NGF-stimulated transcription
		IDH1	Unknown	31413051 37102976 24030381 26728869	Open Targets	Citrate cycle (TCA cycle) Glutathione metabolism Metabolic pathways +9 more
		IDH2	Unknown	24098815 37102976	Open Targets	Citrate cycle (TCA cycle) Glutathione metabolism Metabolic pathways +7 more
		JAK2	Unknown	31413051 24030381 26728869 18059483 16871281 19344419 16270039 17443220 19074904 23300180 18030353 18328559 18450736 37102976 18048969 19277418 15920007 16741247 19295549 19571623 27029036 16034466 22489043 16825501 19415278 26377485 29515765 24627528 21120162 21984971 19372255 18681311 22571758 21034166 23114135 18972067 16572200 18720212	Open Targets	EGFR tyrosine kinase inhibitor resistance Chemokine signaling pathway Hormone signaling +51 more
		KAT6A	Unknown	29146900	Open Targets	Signaling pathways regulating pluripotency of stem cells HATs acetylate histones Regulation of TP53 Activity through Acetylation
		KMT2A	Unknown	26728869	Open Targets	Lysine degradation Metabolic pathways Cushing syndrome +4 more
		KMT2D	Unknown	24030381	Open Targets	Lysine degradation Metabolic pathways Cushing syndrome +4 more
		KRAS	Unknown	29146900 22571758 31366621 26728869	Open Targets	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +134 more
		LOC100506403	Unknown	24030381 26728869 22571758 24608733 20421268 29515765 27029036 31366621 30573779	Open Targets	—
		MPL	Unknown	31366621 24030381 19074904	Open Targets	Cytokine-cytokine receptor interaction Hormone signaling JAK-STAT signaling pathway
		NF1	Unknown	31366621 24030381	Open Targets	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +2 more
		NPM1	Unknown	37102976	Open Targets	Nuclear import of Rev protein SUMOylation of transcription cofactors Deposition of new CENPA-containing nucleosomes at the centromere +2 more
		NRAS	Unknown	24030381 26728869 31366621 24608733 27029036 25516983 22038701 23300180	Open Targets	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +130 more
		PCM1	Unknown	16034466	Open Targets	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		PDGFRA	Unknown	27449473	Open Targets	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +30 more
		PDGFRB	Unknown	22571758	Open Targets	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +22 more
		PHF6	Unknown	37102976 26728869	Open Targets	ATP-dependent chromatin remodeling
		PTEN	Unknown	31366621	Open Targets	Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance +37 more
		PTPN11	Unknown	26728869	Open Targets	Ras signaling pathway Phospholipase D signaling pathway Efferocytosis +56 more
		RB1	Unknown	29146900	Open Targets	Endocrine resistance Cell cycle Cellular senescence +30 more
		SETBP1	Unknown	23628959 23222956 31366621 24854193 26728869	Open Targets	—
		SF3B1	Unknown	27449473 22489043 24608733 27029036 31366621 30573779	Open Targets	Spliceosome B-WICH complex positively regulates rRNA expression mRNA Splicing - Major Pathway +1 more
		SH2B3	Unknown	29146900 37102976	Open Targets	Neurotrophin signaling pathway Regulation of KIT signaling Factors involved in megakaryocyte development and platelet production

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Myelodysplastic/myeloproliferative neoplasm

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