Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
MYELODYSPLASTIC SYNDROME	614286 MONDO:0018881 EFO_0000198 52688	ASXL1	Causal	—	ClinVar, HPO	Polycomb repressive complex UCH proteinases
		GATA2	Causal	—	ClinVar, GenCC	RUNX1 regulates transcription of genes involved in differentiation of HSCs Factors involved in megakaryocyte development and platelet production
		GNB1	Causal	—	ClinVar, HPO	Ras signaling pathway Chemokine signaling pathway Hormone signaling +47 more
		SF3B1	Causal	—	ClinVar, HPO	Spliceosome B-WICH complex positively regulates rRNA expression mRNA Splicing - Major Pathway +1 more
		TET2	Causal	—	ClinVar, HPO	—
		DNMT3A	Unknown	39024449	GWAS catalog	Cysteine and methionine metabolism Metabolic pathways Efferocytosis +3 more
		EFNA5	Unknown	31738830	GWAS catalog	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +6 more
		EYA2	Unknown	31738830	GWAS catalog	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
		GRID1	Unknown	31738830	GWAS catalog	Neuroactive ligand-receptor interaction
		HLA-B	Unknown	31738830	GWAS catalog	Endocytosis Phagosome Cellular senescence +24 more
		IRF4	Unknown	34220922	GWAS catalog	Th17 cell differentiation Interleukin-4 and Interleukin-13 signaling Interferon gamma signaling +1 more
		JAK2	Unknown	39024449 40465716	GWAS catalog	EGFR tyrosine kinase inhibitor resistance Chemokine signaling pathway Hormone signaling +51 more
		PLA2G4A	Unknown	31738830	GWAS catalog	Glycerophospholipid metabolism Ether lipid metabolism Arachidonic acid metabolism +33 more
		TAF2	Unknown	34220922	GWAS catalog	Basal transcription factors RNA Polymerase II Pre-transcription Events Regulation of TP53 Activity through Phosphorylation +4 more
		TAFA4	Unknown	31738830	GWAS catalog	—
		TERT	Unknown	39024449	GWAS catalog	Human papillomavirus infection Human T-cell leukemia virus 1 infection Pathways in cancer +4 more
		TP53	Unknown	32747829	Orphanet	Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more
MYELODYSPLASTIC SYNDROME ASSOCIATED WITH ISOLATED DEL	MONDO:0007925	RPS14	Unknown	—	ClinVar	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
MYELODYSPLASTIC SYNDROME ASSOCIATED WITH ISOLATED DEL CHROMOSOME ABNORMALITY	86841	RPS14	Unknown	22571696	Orphanet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +10 more
MYELODYSPLASTIC SYNDROMES	MESH:D009190	ASXL1	Unknown	27992414	CTD	Polycomb repressive complex UCH proteinases
		ATRX	Unknown	19157545	CTD	Cell cycle
		BMI1	Unknown	24571310	CTD	Polycomb repressive complex Signaling pathways regulating pluripotency of stem cells Transcriptional misregulation in cancer +9 more
		CDKN2B	Unknown	17294728	CTD	FoxO signaling pathway Cell cycle Cellular senescence +12 more
		CFLAR	Unknown	16105982	CTD	NF-kappa B signaling pathway Autophagy - animal Apoptosis +9 more
		CTNNA1	Unknown	17330099	CTD	Hippo signaling pathway Adherens junction Leukocyte transendothelial migration +9 more
		DAPK1	Unknown	19874806	CTD	Autophagy - animal Pathways in cancer Bladder cancer
		DLK1	Unknown	18575777	CTD	—
		DNMT1	Unknown	32431489	CTD	Cysteine and methionine metabolism Metabolic pathways MicroRNAs in cancer +2 more
		DNMT3A	Unknown	32431489	CTD	Cysteine and methionine metabolism Metabolic pathways Efferocytosis +3 more
		DNMT3B	Unknown	32431489	CTD	Cysteine and methionine metabolism Metabolic pathways MicroRNAs in cancer +2 more
		EPO	Unknown	12670338 16076383	CTD	Cytokine-cytokine receptor interaction HIF-1 signaling pathway Hormone signaling +8 more
		EZH2	Unknown	20601954	CTD	Lysine degradation Metabolic pathways Polycomb repressive complex +7 more
		GATA1	Unknown	28963909	CTD	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	21892158 21892162 27992414	CTD	RUNX1 regulates transcription of genes involved in differentiation of HSCs Factors involved in megakaryocyte development and platelet production
		GNB1	Unknown	—	CTD	Ras signaling pathway Chemokine signaling pathway Hormone signaling +47 more
		HDAC1	Unknown	28963909	CTD	ATP-dependent chromatin remodeling Polycomb repressive complex Cell cycle +34 more
		HFE	Unknown	17001480	CTD	TGF-beta signaling pathway Transferrin endocytosis and recycling
		KRAS	Unknown	27992414	CTD	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +134 more
		LGR6	Unknown	32215045	CTD	Wnt signaling pathway Regulation of FZD by ubiquitination
		LYL1	Unknown	16094422	CTD	Transcriptional misregulation in cancer NGF-stimulated transcription
		MYC	Unknown	10914558	CTD	MAPK signaling pathway ErbB signaling pathway Cell cycle +45 more
		PLCB1	Unknown	19805378	CTD	Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +67 more
		PMEPA1	Unknown	32215045	CTD	Downregulation of TGF-beta receptor signaling
		RUNX1	Unknown	27992414	CTD	Tight junction Th17 cell differentiation Pathways in cancer +20 more
		SAMD9	Unknown	27182967	CTD	—
		SF3B1	Unknown	23831919 30049194 24030381 23070040 22902051 30353274 26728869 24531734 31804030 21995386 23280334 33386622 23832012 27771989 30573779 24045501 22096241 22064355 23300180 24325356 21998214 25487075 28222336 22983749 22323480 23390883 24608733 27029036	CTD	Spliceosome B-WICH complex positively regulates rRNA expression mRNA Splicing - Major Pathway +1 more
		SMPD3	Unknown	18283525	CTD	Sphingolipid metabolism Metabolic pathways Glycosphingolipid metabolism +1 more
		SPHK1	Unknown	18283525	CTD	Sphingolipid metabolism Metabolic pathways Calcium signaling pathway +11 more
		STAG2	Unknown	27992414	CTD	Cell cycle Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion +4 more
		TET2	Unknown	19483684 27992414	CTD	—
		TLR2	Unknown	28963909	CTD	Phagosome PI3K-Akt signaling pathway Neutrophil extracellular trap formation +30 more
		TP53	Unknown	27992414	CTD	Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more
		U2AF1	Unknown	22158538	CTD	Spliceosome Shigellosis Transport of Mature mRNA derived from an Intron-Containing Transcript +3 more
		ZRSR2	Unknown	27992414	CTD	mRNA Splicing - Minor Pathway

Myelodysplastic syndrome

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