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Entry	Name	Description	Category	Pathway	Gene
H00003	Acute myeloid leukemia	Acute myeloid leukemia (AML) is a disease that is characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation program ...	Cancer	hsa05221 Acute myeloid leukemia	PML-RARalpha (translocation) [HSA:5371] [KO:K10054] AML1-ETO (translocation) [HSA:861] [KO:K08367] PLZF-RARalpha (translocation) [HSA:7704] [KO:K10055] FLT3 [HSA:2322] [KO:K05092] KIT [HSA:3815] [KO:K05091] NRAS [HSA:4893] [KO:K07828] KRAS [HSA:3845] [KO:K07827] AML1 [HSA:861] [KO:K08367] CEBPA [HSA:1050] [KO:K09055] CBFB [HSA:865] [KO:K25826] CHIC2 [HSA:26511] [KO:K28185] DNMT3A [HSA:1788] [KO:K17398] ETV6 [HSA:2120] [KO:K03211] GATA2 [HSA:2624] [KO:K17894] JAK2 [HSA:3717] [KO:K04447] LPP [HSA:4026] [KO:K16676] MLLT10 [HSA:8028] [KO:K23588] NPM1 [HSA:4869] [KO:K11276] NUP214 [HSA:8021] [KO:K14317] PICALM [HSA:8301] [KO:K20044] SH3GL1 [HSA:6455] [KO:K11247] TERT [HSA:7015] [KO:K11126]
H01892	Peripheral T cell lymphoma	... mutations in epigenetic regulators, including Ten-Eleven Translocation 2 (TET2), DNA methyltransferase 3A (DNMT3A), and isocitrate dehydrogenase 1 /2 (IDH1/2), are discovered in hematologic malignancies. The ...	Cancer		NPM-ALK (translocation) [HSA:238] [KO:K05119] DUSP22-IRF4 (translocation) [HSA:56940] [KO:K14165] TET2 (mutation) [HSA:54790] [KO:K24309] DNMT3A (mutation) [HSA:1788] [KO:K17398] IDH1 (mutation) [HSA:3417] [KO:K00031] IDH2 (mutation) [HSA:3418] [KO:K00031]
H02294	Tatton-Brown-Rahman syndrome	... characterized by intellectual disabilities and facial feature. Mutations in the DNA methyltransferase gene DNMT3A cause TBRS. DNA methylation plays a critical role in both embryonic development and tumorigenesis	Congenital malformation		DNMT3A [HSA:1788] [KO:K17398]
H02410	Myelodysplastic/myeloproliferative neoplasms	Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are hybrid group of chronic myeloid neoplasms combining features of both myelodysplastic (MDS) [DS:H01481] and myeloproliferative neoplasms (MPN) ...	Cancer		DNMT3A (mutation) [HSA:1788] [KO:K17398] TET2 (mutation) [HSA:54790] [KO:K24309] IDH1 (mutation) [HSA:3417] [KO:K00031] IDH2 (mutation) [HSA:3418] [KO:K00031] ASXL1 (mutation) [HSA:171023] [KO:K11471] EZH2 (mutation) [HSA:2146] [KO:K11430] NRAS (mutation) [HSA:4893] [KO:K07828] KRAS (mutation) [HSA:3845] [KO:K07827] JAK2 (mutation) [HSA:3717] [KO:K04447] CBL (mutation) [HSA:867] [KO:K04707] SETBP1 (mutation) [HSA:26040] [KO:K23217] CSF3R (mutation) [HSA:1441] [KO:K05061] PTPN11 (mutation) [HSA:5781] [KO:K07293] NF1 (mutation) [HSA:4763] [KO:K08052] SF3B1 (mutation) [HSA:23451] [KO:K12828] SRSF2 (mutation) [HSA:6427] [KO:K12891] U2AF1 (mutation) [HSA:7307] [KO:K12836] ZRSR2 (mutation) [HSA:8233] [KO:K24273] RUNX1 (mutation) [HSA:861] [KO:K08367] CEBPA (mutation) [HSA:1050] [KO:K09055]
H02411	Chronic myelomonocytic leukemia	Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic stem cell disorder associated with peripheral blood monocytosis, with an inherent risk for leukemic transformation. CMML has overlapping ...	Cancer		TET2 (mutation) [HSA:54790] [KO:K24309] ASXL1 (mutation) [HSA:171023] [KO:K11471] SRSF2 (mutation) [HSA:6427] [KO:K12891] NRAS (mutation) [HSA:4893] [KO:K07828] KRAS (mutation) [HSA:3845] [KO:K07827] CBL (mutation) [HSA:867] [KO:K04707] RUNX1 (mutation) [HSA:861] [KO:K08367] SF3B1 (mutation) [HSA:23451] [KO:K12828] ZRSR2 (mutation) [HSA:8233] [KO:K24273] U2AF1 (mutation) [HSA:7307] [KO:K12836] DNMT3A (mutation) [HSA:1788] [KO:K17398] EZH2 (mutation) [HSA:2146] [KO:K11430] TP53 (mutation) [HSA:7157] [KO:K04451] NPM1 (mutation) [HSA:4869] [KO:K11276] JAK2 (mutation) [HSA:3717] [KO:K04447] FLT3 (mutation) [HSA:2322] [KO:K05092]
H02668	Heyn-Sproul-Jackson syndrome	Heyn-Sproul-Jackson syndrome (HESJAS) is characterized by microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. It has been reported that gain-of-function mutations in DNMT3A cause this disease.	Congenital malformation		DNMT3A [HSA:1788] [KO:K17398]

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