Type	Entity	Source evidence	Confidence	Extractor
gene	TET2	“Computational RNA-seq pipelines and pathway analyses have highlighted key epigenetic regulators, including DNMT3A, TET2, and HDACs, as potential therapeutic targets.”	0.98	hgnc_dict_v1
phenotype	leukemia	“Epigenetics and In Silico Transcriptome Analysis of Pediatric Acute Myeloid Leukemia.”	0.98	phenotype_alias_lexicon_v2
gene	NPM1	“Unlike adult AML, pediatric AML displays distinct genetic mutations, including FLT3-ITD, NPM1, KMT2A rearrangements, and core-binding factors (CBF) fusions, as well as extensive epigenetic dysregulation.”	0.98	hgnc_dict_v1
gene	KMT2A	“Unlike adult AML, pediatric AML displays distinct genetic mutations, including FLT3-ITD, NPM1, KMT2A rearrangements, and core-binding factors (CBF) fusions, as well as extensive epigenetic dysregulation.”	0.98	hgnc_dict_v1

PMID 41141147 | PMCID PMC12553507 | DOI 10.7759/cureus.93082 · Cureus · 2025 · 5 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	TET2	“Genetic alterations, including mutations in STAT3, TET2, and DNMT3A, further highlight the overlap between RA pathophysiology and hematologic malignancies.”	0.98	hgnc_dict_v1
phenotype	leukemia	“Moreover, RA treatments such as methotrexate (MTX), Janus kinase (JAK) inhibitors, and anti-TNF therapies have complex implications, with some studies suggesting potential contributions to leukemia risk through immune suppression and hematopoietic alterations.”	0.98	phenotype_alias_lexicon_v2
gene	STAT3	“Genetic alterations, including mutations in STAT3, TET2, and DNMT3A, further highlight the overlap between RA pathophysiology and hematologic malignancies.”	0.98	hgnc_dict_v1
gene	DNMT3A	“Genetic alterations, including mutations in STAT3, TET2, and DNMT3A, further highlight the overlap between RA pathophysiology and hematologic malignancies.”	0.98	hgnc_dict_v1

PMID 38204493 | PMCID PMC10777859 | DOI 10.2147/IJGM.S437327 · International journal of general medicine · 2024 · 13 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	TET2	“This panel was designed to sequence the complete genome of CALR, IDH1, IDH2, JAK2, FLT3, NPM1, MPL, TET2, SF3B1, TP53, and MLL.”	0.98	hgnc_dict_v1
phenotype	leukemia	“PURPOSE: Genetic mutations are major factors in the diagnosis and prognosis of leukemia, and it is difficult to assess these variants using single-gene analysis.”	0.98	phenotype_alias_lexicon_v2
gene	CALR	“This panel was designed to sequence the complete genome of CALR, IDH1, IDH2, JAK2, FLT3, NPM1, MPL, TET2, SF3B1, TP53, and MLL.”	0.98	hgnc_dict_v1
gene	IDH1	“This panel was designed to sequence the complete genome of CALR, IDH1, IDH2, JAK2, FLT3, NPM1, MPL, TET2, SF3B1, TP53, and MLL.”	0.98	hgnc_dict_v1

PMID 33764257 | DOI 10.1080/08880018.2021.1901808 · Pediatric hematology and oncology · 2021 · 9 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	TET2	“High ASXL1 expression showed linkage with high expression of other epigenetic modifiers (TET2/EZH2/IDH1&2).”	0.98	hgnc_dict_v1
phenotype	leukemia	“Gene Expression Analysis of Pediatric Acute Myeloid Leukemia Identified a Hyperactive ASXL1/BAP1 Axis Linked with Poor Prognosis and over Expressed Epigenetic Modifiers.”	0.98	phenotype_alias_lexicon_v2
gene	ASXL1	“Gene Expression Analysis of Pediatric Acute Myeloid Leukemia Identified a Hyperactive ASXL1/BAP1 Axis Linked with Poor Prognosis and over Expressed Epigenetic Modifiers.”	0.98	hgnc_dict_v1
gene	BAP1	“Gene Expression Analysis of Pediatric Acute Myeloid Leukemia Identified a Hyperactive ASXL1/BAP1 Axis Linked with Poor Prognosis and over Expressed Epigenetic Modifiers.”	0.98	hgnc_dict_v1

PMID 31058255 | PMCID PMC6452588 | DOI 10.1177/2516865719839011 · Epigenetics insights · 2019 · 19 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	TET2	“Interestingly, several TSGs, such as DLC1, PPARG, ST7, FOXO6, TET2, CYP1B1, SALL4, and DDIT3, known to be epigenetically silenced in various tumors, including acute leukemia, were upregulated, along with the upregulation of several downstream pro-apoptotic genes, such as RASL11B, RASD1, GNG3, BAD, and BIK.”	0.98	hgnc_dict_v1
phenotype	leukemia	“In the present study, we performed RNA sequencing to investigate the anticancer mechanisms of TQ-treated T-cell acute lymphoblastic leukemia cell line (Jurkat cells) and examined gene expression using different tools.”	0.98	phenotype_alias_lexicon_v2
gene	UHRF1	“We found that many key epigenetic players, including ubiquitin-like containing plant homeodomain (PHD) and really interesting new gene (RING) finger domains 1 (UHRF1), DNMT1,3A,3B, G9A, HDAC1,4,9, KDM1B, and KMT2A,B,C,D,E, were downregulated in TQ-treated Jurkat cells.”	0.98	hgnc_dict_v1
gene	DNMT1	“We found that many key epigenetic players, including ubiquitin-like containing plant homeodomain (PHD) and really interesting new gene (RING) finger domains 1 (UHRF1), DNMT1,3A,3B, G9A, HDAC1,4,9, KDM1B, and KMT2A,B,C,D,E, were downregulated in TQ-treated Jurkat cells.”	0.98	hgnc_dict_v1

PMID 23940084 | DOI 10.1002/ajh.23567 · American journal of hematology · 2013 · 5 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	TET2	“TET2 mutations, myelodysplastic features, and a distinct immunoprofile characterize blastic plasmacytoid dendritic cell neoplasm in the bone marrow.”	0.98	hgnc_dict_v1
phenotype	leukemia	“Distinguishing blastic plasmacytoid dendritic cell neoplasm (BPDCN) from acute myeloid leukemia (AML) is gaining increased importance because of emerging differences in therapeutic approaches, and this distinction can be problematic in bone marrow specimens.”	0.98	phenotype_alias_lexicon_v2
gene	CD19	“Immunophenotypic analysis showed that the neoplastic cells were positive for CD4, CD123, TCL-1, and HLA-DR and were negative for CD3, CD8, CD13, CD19, CD34, and myeloperoxidase.”	0.98	hgnc_dict_v1
gene	CD34	“Immunophenotypic analysis showed that the neoplastic cells were positive for CD4, CD123, TCL-1, and HLA-DR and were negative for CD3, CD8, CD13, CD19, CD34, and myeloperoxidase.”	0.98	hgnc_dict_v1