Acute myeloid leukemia

disease

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Also known as acute granulocytic leukaemiaacute granulocytic leukemiaacute myeloblastic leukemiaacute myelocytic leukaemiaacute myelocytic leukemiaacute myelogenous leukemiaacute myelogenous leukemiasacute myeloid leukaemia (AML)acute myeloid leukemia (AML)acute myeloid leukemia, somaticacute non lymphoblastic leukaemiaacute non lymphoblastic leukemiaacute Nonlymphocytic leukaemiaacute Nonlymphocytic leukemiaAMLAML - acute myeloid leukaemiaAML - acute myeloid leukemiaANLLhematopoeitic - acute Myleogenous leukaemia (AML)

Summary

Acute myeloid leukemia (MONDO:0018874) is a cancer (an umbrella term covering 78 Mondo subtypes) caused by variants in CEBPA, ANKRD26, ETV6, and 4 other genes, with 54 cohort genes (1,756 GWAS associations across 17 studies; 35 CIViC-evidence somatic drivers; 1,519 ClinVar predisposition records) and 2,219 clinical trials. The dominant Reactome pathway is RAF/MAP kinase cascade (8 cohort genes). Molecularly, FLT3 ITD confers sensitivity to Gilteritinib in Acute Myeloid Leukemia (CIViC Level A); 169 further subtype–drug associations are mapped below. Top therapeutic interventions include fludarabine phosphate, daunorubicin, and azacitidine.

At a glance

Classification: Cancer
Prevalence: 1-5 / 10 000 (Europe) [Orphanet-validated]
Causal genes: CEBPA (GenCC Definitive), ANKRD26 (GenCC Strong), ETV6 (GenCC Strong), GATA2 (GenCC Strong) (+3 more)
Umbrella term: 78 Mondo subtypes
Cohort genes: 54
GWAS associations: 1,756
ClinVar variants: 1,519
Clinical trials: 2,219
Precision-medicine evidence (CIViC): 170 subtype–drug associations

Clinical features

Epidemiology

Prevalence records

7 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 100 000	2.5	Worldwide	Validated
Annual incidence	1-9 / 100 000	3.39	Europe	Validated
Lifetime Prevalence	1-5 / 10 000	10.98	Europe	Validated
Point prevalence	1-5 / 10 000	10	Europe	Validated
Annual incidence	1-9 / 100 000	4.4	France	Validated
Annual incidence	1-9 / 100 000	2.8	Denmark	Validated
Annual incidence	1-9 / 100 000	3.7	United States	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	acute myeloid leukemia
Mondo ID	MONDO:0018874
EFO	EFO:0000222
MeSH	D015470
OMIM	601626
Orphanet	519
DOID	DOID:9119
ICD-10-CM	C92.0
NCIT	C3171
SNOMED CT	91861009
UMLS	C0023467
MedGen	9730
GARD	0012757
MedDRA	10000880
NORD	1905
Is cancer (heuristic)	yes

Also known as: acute granulocytic leukaemia · acute granulocytic leukemia · acute myeloblastic leukemia · acute myelocytic leukaemia · acute myelocytic leukemia · acute myelogenous leukemia · acute myelogenous leukemias · acute myeloid leukaemia (AML) · acute myeloid leukemia · acute myeloid leukemia (AML) · acute myeloid leukemia, somatic · acute non lymphoblastic leukaemia · acute non lymphoblastic leukemia · acute Nonlymphocytic leukaemia · acute nonlymphocytic leukaemia · acute Nonlymphocytic leukemia · acute nonlymphocytic leukemia · AML · AML - acute myeloid leukaemia · AML - acute myeloid leukemia (+11 more)

Data availability: 1,519 ClinVar variants · 1,756 GWAS associations (17 studies) · 18 GenCC gene-disease records · 153 cell lines · 71 intOGen driver records.

Disease family

An umbrella term covering 78 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › hematopoietic and lymphoid system neoplasm › hematopoietic and lymphoid cell neoplasm › leukemia › myeloid leukemia › acute myeloid leukemia

Subtypes (78): childhood acute myeloid leukemia, acute monocytic leukemia, acute myeloid leukemia with t(8;21)(q22;q22) translocation, acute myeloid leukemia by FAB classification, inherited acute myeloid leukemia, acute myeloid leukemia with CEBPA somatic mutations, acute myeloid leukemia with t(8;16)(p11;p13) translocation, acute myeloid leukemia with t(6;9)(p23;q34), acute myeloid leukemia with t(9;11)(p22;q23), acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2), megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13), acute myeloid leukemia with NPM1 somatic mutations, acute myeloid leukemia with multilineage dysplasia, therapy related acute myeloid leukemia and myelodysplastic syndrome, acute leukemia of ambiguous lineage, acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22), acute myeloid leukemia with 11q23 abnormalities, acute myeloid leukemia with BCR-ABL1, acute myeloid leukemia with mutated NPM1, acute myeloid leukemia, inv(16)(p13.1;q22), acute myeloid leukemia, t(16;16)(p13.1;q22), acute myeloid leukemia, t(15;17)(q24;q21), acute myeloid leukemia, t(9;11)(p21.3;q23.3), acute myeloid leukemia, t(10;11)(p12;q23), acute myeloid leukemia, t(10;11)(p11.2;q23), acute myeloid leukemia, t(1;11)(q21;q23), acute myeloid leukemia, t(4;11)(q21;q23), acute myeloid leukemia, t(6;11)(q27;q23), acute myeloid leukemia, t(6;9)(p23;q34.1), acute myeloid leukemia, t(11;19)(q23;p13), acute myeloid leukemia, t(11;19)(q23;p13.1), acute myeloid leukemia, t(11;19)(q23.3;p13.3), acute myeloid leukemia, t(v;11q23.3), acute myeloid leukemia, Monosomy 7, acute myeloid leukemia, Monosomy 5, acute myeloid leukemia, Trisomy 8, acute myeloid leukemia, der12p, acute myeloid leukemia, t(2;12), acute myeloid leukemia, t(11;17), acute myeloid leukemia, t(8;16), acute myeloid leukemia, t(1;22), acute myeloid leukemia, t(5;11)(q35;p15), acute myeloid leukemia, t(7;12)(q36;p13), acute myeloid leukemia, t(9;22)(q34.1;q11.2), acute myeloid leukemia, inv(3)(q21.3;q26.2), acute myeloid leukemia, t(3;3)(q21.3;q26.2), acute myeloid leukemia, t(3;12)(q23;p12.3), acute myeloid leukemia, del(5q31-q32), acute myeloid leukemia, del(13q14-q21), acute myeloid leukemia, loss of chromosome 17p, acute myeloid leukemia, MLL gene rearrangement, acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive, acute myeloid leukemia, inv(16)(p13.3;q24.3), acute myeloid leukemia, t(11;15)(p15;q35), acute myeloid leukemia, t(16;21)(q24;q22), acute myeloid leukemia, t(3;5)(q25;q34), acute myeloid leukemia, t(16;21)(p11;q22), acute myeloid leukemia, monoallelic CEBPA gene mutation, acute myeloid leukemia, biallelic CEBPA gene mutation, acute myeloid leukemia, CEBPA gene mutation, acute myeloid leukemia, FLT3 internal tandem duplication, acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation, acute myeloid leukemia, WT1 gene mutation, acute myeloid leukemia, KIT exon 17 mutation, acute myeloid leukemia, KIT exon 8 mutation, acute myeloid leukemia, KIT gene mutation, acute myeloid leukemia, GATA1 gene mutation, acute myeloid leukemia, RUNX1 gene mutation, acute myeloid leukemia, PTPN11 gene mutation, acute myeloid leukemia, NRAS gene mutation, acute myeloid leukemia, KRAS gene mutation, core binding factor acute myeloid leukemia, acute myeloid leukemia, t(8;21)(q22; q22.1), acute myeloid leukemia, t(1;22)(p13;q13), acute myeloid leukemia with CBFA2T3-GLIS2 fusion, acute myeloid leukemia with FUS-ERG fusion, acute myeloid leukemia with MNX1-ETV6 fusion, acute myeloid leukemia with NPM1-MLF1 fusion

Genetics & variants

GWAS landscape

1,756 GWAS associations across 17 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele
rs1334526	4e-40	PCDH15; PCDH15; PCDH15; PCDH15; PCDH15; PCDH15; PCDH15; PCDH15	T
rs9323167	1e-39	RPL18P1 - ATP5MC2P2; RPL18P1 - ATP5MC2P2	C
rs12704039	6e-39	C7orf33; C7orf33	C
rs1289356	2e-37	LINC02309; LINC02309; LINC02309; LINC02309; LINC02309	A
rs1769621	5e-36	EGLN3; EGLN3; EGLN3; EGLN3; EGLN3; EGLN3; EGLN3	T
rs2717694	1e-35	ZNF213-AS1; ZSCAN10 - ZNF213-AS1; ZNF213-AS1; ZNF205; ZNF213-AS1; ZNF213-AS1; ZNF205; ZNF213-AS1	A
rs439390	1e-35	RPL10AP12 - IRF8; RPL10AP12 - IRF8; RPL10AP12 - IRF8	T
rs985549	2e-35	MIR4431 - ASB3; MIR4431 - ASB3; MIR4431 - ASB3; MIR4431 - ASB3; MIR4431 - ASB3; MIR4431 - ASB3; MIR4431 - ASB3; MIR4431 - ASB3; MIR4431 - ASB3; MIR4431 - ASB3	A
rs10924359	9e-34	SMYD3; SMYD3; SMYD3	G
rs7515023	3e-33	LINC01703 - ACBD3-AS1; ACBD3-AS1; LINC01703 - ACBD3-AS1; LINC01703 - ACBD3-AS1; LINC01703 - ACBD3-AS1	G
rs12070820	3e-33	FCRL4 - FCRL3; FCRL4 - FCRL3; FCRL4 - FCRL3; FCRL4 - FCRL3; FCRL4 - FCRL3; FCRL4 - FCRL3; FCRL4 - FCRL3; FCRL4 - FCRL3; FCRL4 - FCRL3; FCRL4 - FCRL3	G
rs1062004	2e-32	RAB20; RAB20; RAB20	T
rs11243033	3e-32	FARS2; FARS2; FARS2; FARS2; FARS2	T
rs6557123	4e-32	AKAP12; AKAP12; RNU6-300P - AKAP12; AKAP12	C
rs13131244	8e-32	IGFBP7-AS1; IGFBP7-AS1 - RPS26P24; IGFBP7-AS1; IGFBP7-AS1 - RPS26P24	G
rs4486987	1e-31	ARHGAP28; ARHGAP28; ARHGAP28; ARHGAP28; ARHGAP28; ARHGAP28; ARHGAP28; ARHGAP28; ARHGAP28; ARHGAP28; ARHGAP28	A
rs10179948	2e-31	MERTK; MERTK; MERTK; MERTK; MERTK; MERTK; MERTK; MERTK	C
rs1950669	3e-31	LINC01500; LINC01500	G
rs11255780	3e-31	FBH1; FBH1; FBH1; FBH1; FBH1; FBH1; FBH1; FBH1; FBH1; FBH1; FBH1	C
rs2893200	5e-31	BTBD8; BTBD8; BTBD8; BTBD8; BTBD8; BTBD8; BTBD8; BTBD8	C
rs710843	9e-31	GPAT3 - Y_RNA; GPAT3; GPAT3 - Y_RNA; GPAT3; GPAT3; GPAT3; GPAT3 - Y_RNA; GPAT3; GPAT3; GPAT3 - Y_RNA; GPAT3 - Y_RNA; GPAT3; GPAT3 - Y_RNA; GPAT3; GPAT3 - Y_RNA; GPAT3 - Y_RNA; GPAT3 - Y_RNA	A
rs7538432	1e-30	LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648	T
rs1510880	2e-30	GAB1; GAB1; GAB1; GAB1; GAB1; GAB1; GAB1; GAB1; GAB1; GAB1; GAB1	T
rs7236987	3e-30	CEP192; CEP192; CEP192; CEP192; CEP192; CEP192; CEP192; CEP192 - LDLRAD4; CEP192; CEP192; CEP192 - LDLRAD4; CEP192; CEP192	T
rs550547	4e-30	TENM4; TENM4; TENM4; TENM4; TENM4; TENM4; TENM4	A
rs7192315	5e-29	LINC02195 - C16orf82; LINC02195 - C16orf82; LINC02195 - C16orf82; LINC02195 - C16orf82; LINC02195 - C16orf82	C
rs7182178	8e-29	DTWD1 - ATP8B4; DTWD1 - ATP8B4; DTWD1 - ATP8B4; DTWD1 - ATP8B4	T
rs7184516	4e-28	LINC02195 - C16orf82; LINC02195 - C16orf82; LINC02195 - C16orf82	G
rs7591253	1e-27	LINC01320 - RN7SL602P; LINC01320 - RN7SL602P; LINC01320 - RN7SL602P; LINC01320 - RN7SL602P	T
rs11874047	1e-27	AIDAP3 - METTL4; AIDAP3 - METTL4	C

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90707271	Ranasinghe D	2026	4,710	12,938	Common variation at 1q23.3, 2p23.3, 2q33.3, and 2p21 influences risk of acute myeloid leukemia.
GCST90094652	Lin WY	2021	3,041	6,760	Genome-wide association study identifies susceptibility loci for acute myeloid leukemia.
GCST90094653	Lin WY	2021	3,041	6,760	Genome-wide association study identifies susceptibility loci for acute myeloid leukemia.
GCST90020096	Wang J	2021	1,769	2,814	Genome-Wide Association Analyses Identify Variants in IRF4 Associated With Acute Myeloid Leukemia and Myelodysplastic Syndrome Susceptibility.
GCST90707274	Ranasinghe D	2026	1,583	12,938	Common variation at 1q23.3, 2p23.3, 2q33.3, and 2p21 influences risk of acute myeloid leukemia.
GCST90054802	Wang J	2021	836	2,814	Genome-Wide Association Analyses Identify Variants in IRF4 Associated With Acute Myeloid Leukemia and Myelodysplastic Syndrome Susceptibility.
GCST90481546	Verma A	2024	624	450,548	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90054801	Wang J	2021	543	2,814	Genome-Wide Association Analyses Identify Variants in IRF4 Associated With Acute Myeloid Leukemia and Myelodysplastic Syndrome Susceptibility.
GCST90707272	Ranasinghe D	2026	358	12,938	Common variation at 1q23.3, 2p23.3, 2q33.3, and 2p21 influences risk of acute myeloid leukemia.
GCST90707273	Ranasinghe D	2026	319	12,938	Common variation at 1q23.3, 2p23.3, 2q33.3, and 2p21 influences risk of acute myeloid leukemia.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	2
Tier 3: regulatory	11
Tier 4: intronic/intergenic	37

MAF distribution

Bucket	Variants
common (>=0.05)	6
low_freq (0.01-0.05)	7
rare (<0.01)	37
unknown	0

Functional consequences

Consequence	Count
intron_variant; intron_variant; intron_variant; intron_variant; intron_variant	6
intron_variant; intron_variant	5
intron_variant; intron_variant; intron_variant	3
intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant	3
intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant	2
intergenic_variant; intergenic_variant	2
intergenic_variant; intergenic_variant; intergenic_variant	2
intergenic_variant; intergenic_variant; intergenic_variant; intergenic_variant; TF_binding_site_variant; non_coding_transcript_exon_variant; intergenic_variant	1
non_coding_transcript_exon_variant; regulatory_region_variant; non_coding_transcript_exon_variant; intron_variant; intron_variant; non_coding_transcript_exon_variant	1
intergenic_variant; intergenic_variant; regulatory_region_variant; intergenic_variant; intergenic_variant; intergenic_variant; intergenic_variant; regulatory_region_variant; intergenic_variant; intergenic_variant	1
intergenic_variant; non_coding_transcript_exon_variant; intergenic_variant; regulatory_region_variant; intergenic_variant	1
intron_variant; intergenic_variant; intergenic_variant; intron_variant; intergenic_variant; splice_polypyrimidine_tract_variant; intron_variant; intergenic_variant; intergenic_variant; intergenic_variant	1
intron_variant; missense_variant; synonymous_variant	1
intron_variant; intron_variant; intergenic_variant; intron_variant	1
non_coding_transcript_exon_variant; intergenic_variant; non_coding_transcript_exon_variant; intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs1334526	10;10;10;10;10;10;10;10	55423717	G>A,C,T	0	intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant	PCDH15; PCDH15; PCDH15; PCDH15; PCDH15; PCDH15; PCDH15; PCDH15	4e-40	Tier 4: intronic/intergenic
rs9323167	14;14	49014621	G>A	0.019	intergenic_variant; intergenic_variant	RPL18P1 - ATP5MC2P2; RPL18P1 - ATP5MC2P2	1e-39	Tier 4: intronic/intergenic
rs12704039	7;7	148608928	T>A,C,G	0.019	intron_variant; intron_variant	C7orf33; C7orf33	6e-39	Tier 4: intronic/intergenic
rs1289356	14;14;14;14;14	86365125	G>T	0.005	intron_variant; intron_variant; intron_variant; intron_variant; intron_variant	LINC02309; LINC02309; LINC02309; LINC02309; LINC02309	2e-37	Tier 4: intronic/intergenic
rs1769621	14;14;14;14;14;14;14	33954472	T>A,C,G	0.004	intergenic_variant; intergenic_variant; intergenic_variant; intergenic_variant; TF_binding_site_variant; non_coding_transcript_exon_variant; intergenic_variant	EGLN3; EGLN3; EGLN3; EGLN3; EGLN3; EGLN3; EGLN3	5e-36	Tier 4: intronic/intergenic
rs2717694	16;16;16;16;16;16	3101335	C>G,T	0	non_coding_transcript_exon_variant; regulatory_region_variant; non_coding_transcript_exon_variant; intron_variant; intron_variant; non_coding_transcript_exon_variant	ZNF213-AS1; ZSCAN10 - ZNF213-AS1; ZNF213-AS1; ZNF205; ZNF213-AS1; ZNF213-AS1; ZNF205; ZNF213-AS1	1e-35	Tier 3: regulatory
rs439390	16;16;16	85885600	A>G,T	0.009	intergenic_variant; intergenic_variant; intergenic_variant	RPL10AP12 - IRF8; RPL10AP12 - IRF8; RPL10AP12 - IRF8	1e-35	Tier 4: intronic/intergenic
rs985549	2;2;2;2;2;2;2;2;2;2	53467989	G>C	0.003	intergenic_variant; intergenic_variant; regulatory_region_variant; intergenic_variant; intergenic_variant; intergenic_variant; intergenic_variant; regulatory_region_variant; intergenic_variant; intergenic_variant	MIR4431 - ASB3; MIR4431 - ASB3; MIR4431 - ASB3; MIR4431 - ASB3; MIR4431 - ASB3; MIR4431 - ASB3; MIR4431 - ASB3; MIR4431 - ASB3; MIR4431 - ASB3; MIR4431 - ASB3	2e-35	Tier 3: regulatory
rs10924359	1;1;1	245848027	T>A,C	0	intron_variant; intron_variant; intron_variant	SMYD3; SMYD3; SMYD3	9e-34	Tier 4: intronic/intergenic
rs7515023	1;1;1;1;1	226112787	C>T	0.003	intergenic_variant; non_coding_transcript_exon_variant; intergenic_variant; regulatory_region_variant; intergenic_variant	LINC01703 - ACBD3-AS1; ACBD3-AS1; LINC01703 - ACBD3-AS1; LINC01703 - ACBD3-AS1; LINC01703 - ACBD3-AS1	3e-33	Tier 3: regulatory
rs12070820	1;1;1;1;1;1;1;1;1;1	157658586	G>C	0	intron_variant; intergenic_variant; intergenic_variant; intron_variant; intergenic_variant; splice_polypyrimidine_tract_variant; intron_variant; intergenic_variant; intergenic_variant; intergenic_variant	FCRL4 - FCRL3; FCRL4 - FCRL3; FCRL4 - FCRL3; FCRL4 - FCRL3; FCRL4 - FCRL3; FCRL4 - FCRL3; FCRL4 - FCRL3; FCRL4 - FCRL3; FCRL4 - FCRL3; FCRL4 - FCRL3	3e-33	Tier 2: splice/UTR
rs1062004	13;13;13	110524269	G>T	0.001	intron_variant; missense_variant; synonymous_variant	RAB20; RAB20; RAB20	2e-32	Tier 4: intronic/intergenic
rs11243033	6;6;6;6;6	5736510	G>A,C	0.002	intron_variant; intron_variant; intron_variant; intron_variant; intron_variant	FARS2; FARS2; FARS2; FARS2; FARS2	3e-32	Tier 4: intronic/intergenic
rs6557123	6;6;6;6	151242440	A>G	0.002	intron_variant; intron_variant; intergenic_variant; intron_variant	AKAP12; AKAP12; RNU6-300P - AKAP12; AKAP12	4e-32	Tier 4: intronic/intergenic
rs13131244	4;4;4;4	57206976	C>A,G	0	non_coding_transcript_exon_variant; intergenic_variant; non_coding_transcript_exon_variant; intergenic_variant	IGFBP7-AS1; IGFBP7-AS1 - RPS26P24; IGFBP7-AS1; IGFBP7-AS1 - RPS26P24	8e-32	Tier 4: intronic/intergenic
rs4486987	18;18;18;18;18;18;18;18;18;18;18	6762371	G>A,C,T	0	intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant	ARHGAP28; ARHGAP28; ARHGAP28; ARHGAP28; ARHGAP28; ARHGAP28; ARHGAP28; ARHGAP28; ARHGAP28; ARHGAP28; ARHGAP28	1e-31	Tier 4: intronic/intergenic
rs10179948	2;2;2;2;2;2;2;2	112013244	T>C	0	intron_variant; splice_polypyrimidine_tract_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant	MERTK; MERTK; MERTK; MERTK; MERTK; MERTK; MERTK; MERTK	2e-31	Tier 2: splice/UTR
rs1950669	14;14	59057134	T>C,G	0.002	intergenic_variant; intergenic_variant	LINC01500; LINC01500	3e-31	Tier 4: intronic/intergenic
rs11255780	10;10;10;10;10;10;10;10;10;10;10	5897865	G>A	0	intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant	FBH1; FBH1; FBH1; FBH1; FBH1; FBH1; FBH1; FBH1; FBH1; FBH1; FBH1	3e-31	Tier 4: intronic/intergenic
rs2893200	1;1;1;1;1;1;1;1	92142472	G>A	0	intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant	BTBD8; BTBD8; BTBD8; BTBD8; BTBD8; BTBD8; BTBD8; BTBD8	5e-31	Tier 4: intronic/intergenic
rs710843	4;4;4;4;4;4;4;4;4;4;4;4;4;4;4;4;4	83618308	G>A	0	intergenic_variant; intron_variant; intergenic_variant; intron_variant; intron_variant; intron_variant; intergenic_variant; intron_variant; intron_variant; intergenic_variant; intergenic_variant; intron_variant; intergenic_variant; intron_variant; intergenic_variant; intergenic_variant; regulatory_region_variant	GPAT3 - Y_RNA; GPAT3; GPAT3 - Y_RNA; GPAT3; GPAT3; GPAT3; GPAT3 - Y_RNA; GPAT3; GPAT3; GPAT3 - Y_RNA; GPAT3 - Y_RNA; GPAT3; GPAT3 - Y_RNA; GPAT3; GPAT3 - Y_RNA; GPAT3 - Y_RNA; GPAT3 - Y_RNA	9e-31	Tier 3: regulatory
rs7538432	1;1;1;1;1;1;1;1;1;1;1;1;1	29860922	A>C,G,T	0	intergenic_variant; intergenic_variant; intergenic_variant; intergenic_variant; intergenic_variant; intergenic_variant; intergenic_variant; intergenic_variant; intergenic_variant; intergenic_variant; intergenic_variant; intergenic_variant; intergenic_variant	LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648; LINC01756 - LINC01648	1e-30	Tier 4: intronic/intergenic
rs1510880	4;4;4;4;4;4;4;4;4;4;4	143369845	T>A,G	0.002	intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant	GAB1; GAB1; GAB1; GAB1; GAB1; GAB1; GAB1; GAB1; GAB1; GAB1; GAB1	2e-30	Tier 4: intronic/intergenic
rs7236987	18;18;18;18;18;18;18;18;18;18;18;18;18	13066039	G>A	0.001	intron_variant; intron_variant; intron_variant; intron_variant; missense_variant; intron_variant; intron_variant; intergenic_variant; intron_variant; intron_variant; intergenic_variant; intron_variant; intron_variant	CEP192; CEP192; CEP192; CEP192; CEP192; CEP192; CEP192; CEP192 - LDLRAD4; CEP192; CEP192; CEP192 - LDLRAD4; CEP192; CEP192	3e-30	Tier 4: intronic/intergenic
rs550547	11;11;11;11;11;11;11	79157534	A>C,T	0.016	intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant	TENM4; TENM4; TENM4; TENM4; TENM4; TENM4; TENM4	4e-30	Tier 4: intronic/intergenic
rs7192315	16;16;16;16;16	26634658	T>C	0.007	intron_variant; intron_variant; intron_variant; intron_variant; intron_variant	LINC02195 - C16orf82; LINC02195 - C16orf82; LINC02195 - C16orf82; LINC02195 - C16orf82; LINC02195 - C16orf82	5e-29	Tier 4: intronic/intergenic
rs7182178	15;15;15;15	49832202	T>A,C	0	intergenic_variant; intergenic_variant; regulatory_region_variant; intergenic_variant	DTWD1 - ATP8B4; DTWD1 - ATP8B4; DTWD1 - ATP8B4; DTWD1 - ATP8B4	8e-29	Tier 3: regulatory
rs7184516	16;16;16	27061527	G>A,C	0.464	intergenic_variant; intergenic_variant; intergenic_variant	LINC02195 - C16orf82; LINC02195 - C16orf82; LINC02195 - C16orf82	4e-28	Tier 4: intronic/intergenic
rs7591253	2;2;2;2	34762139	A>G,T	0	intron_variant; intron_variant; intron_variant; intron_variant	LINC01320 - RN7SL602P; LINC01320 - RN7SL602P; LINC01320 - RN7SL602P; LINC01320 - RN7SL602P	1e-27	Tier 4: intronic/intergenic
rs11874047	18;18	2170567	T>A,C,G	0.489	intron_variant; intron_variant	AIDAP3 - METTL4; AIDAP3 - METTL4	1e-27	Tier 4: intronic/intergenic

ClinVar germline variants

600 retrieved; paginated sample, class counts are floors:

311 uncertain significance, 164 likely benign, 42 pathogenic, 41 conflicting classifications of pathogenicity, 20 likely pathogenic, 7 pathogenic/likely pathogenic, 5 benign, 5 not provided, 5 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1345034	MN1-ETV6 fusion		Pathogenic	no assertion criteria provided
1679813	NM_001123385.2(BCOR):c.4751del (p.Asn1584fs)	BCOR	Pathogenic	no assertion criteria provided
1067813	NM_004364.5(CEBPA):c.60dup (p.Ser21fs)	CEBPA	Pathogenic	criteria provided, single submitter
1343787	NM_004364.5(CEBPA):c.292del (p.Thr98fs)	CEBPA	Pathogenic	criteria provided, single submitter
1343791	NM_004364.5(CEBPA):c.146del (p.Pro49fs)	CEBPA	Pathogenic	criteria provided, single submitter
1343793	NM_004364.5(CEBPA):c.180_183del (p.Ile62fs)	CEBPA	Pathogenic	criteria provided, single submitter
1343795	NM_004364.5(CEBPA):c.174_184del (p.Glu59fs)	CEBPA	Pathogenic	criteria provided, single submitter
1452019	NM_004364.5(CEBPA):c.125del (p.Pro42fs)	CEBPA	Pathogenic	criteria provided, single submitter
1452838	NM_004364.5(CEBPA):c.69del (p.His24fs)	CEBPA	Pathogenic	criteria provided, single submitter
1698770	NM_004364.5(CEBPA):c.209del (p.Pro70fs)	CEBPA	Pathogenic	criteria provided, single submitter
1701953	NM_004364.5(CEBPA):c.1039G>A (p.Glu347Lys)	CEBPA	Pathogenic	no assertion criteria provided
1701955	NM_004364.5(CEBPA):c.314A>T (p.Asp105Val)	CEBPA	Pathogenic	no assertion criteria provided
17566	NM_004364.5(CEBPA):c.115_121del (p.Pro39fs)	CEBPA	Pathogenic	no assertion criteria provided
17567	NM_004364.5(CEBPA):c.148G>T (p.Glu50Ter)	CEBPA	Pathogenic	no assertion criteria provided
17569	NM_004364.5(CEBPA):c.935_991dup (p.Gln312_Gln330dup)	CEBPA	Pathogenic	no assertion criteria provided
17570	NM_004364.5(CEBPA):c.925_951dup (p.Glu309_Leu317dup)	CEBPA	Pathogenic	no assertion criteria provided
17571	NM_004364.5(CEBPA):c.211_214dup (p.Ala72fs)	CEBPA	Pathogenic	no assertion criteria provided
17572	NM_004364.5(CEBPA):c.68del (p.Pro23fs)	CEBPA	Pathogenic	no assertion criteria provided
2013328	NM_004364.5(CEBPA):c.324C>A (p.Tyr108Ter)	CEBPA	Pathogenic	criteria provided, single submitter
21401	NM_004364.5(CEBPA):c.68dup (p.His24fs)	CEBPA	Pathogenic	criteria provided, multiple submitters, no conflicts
210843	NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer)	DDX41	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
162222	NM_001987.5(ETV6):c.641C>T (p.Pro214Leu)	ETV6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
16271	NM_004119.3(FLT3):c.2520_2521insGGATCC (p.Ser840_Asn841insGlySer)	FLT3	Pathogenic	no assertion criteria provided
16272	NM_004119.3(FLT3):c.2504A>T (p.Asp835Val)	FLT3	Pathogenic	no assertion criteria provided
16273	NM_004119.3(FLT3):c.2503G>C (p.Asp835His)	FLT3	Pathogenic	no assertion criteria provided
16274	NM_004119.3(FLT3):c.2503G>A (p.Asp835Asn)	FLT3	Pathogenic	no assertion criteria provided
16276	NM_004119.3(FLT3):c.2503G>T (p.Asp835Tyr)	FLT3	Pathogenic	no assertion criteria provided
16277	NM_004119.3(FLT3):c.2503_2505del (p.Asp835del)	FLT3	Pathogenic	no assertion criteria provided
14662	NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	INSL6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
14663	NM_004972.4(JAK2):c.1821G>C (p.Lys607Asn)	JAK2	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 89 · Orphanet: 225 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 2

Dual-evidence genes (GWAS + Mendelian — highest-confidence targets)

Gene	HGNC	Evidence routes
RUNX1	RUNX1	GWAS, GenCC, Orphanet
PDGFRA	PDGFRA	GWAS, Orphanet

Somatic driver evidence (intOGen + CIViC, cohort fanout)

Gene	intOGen role	Cancer types	CIViC
RUNX1	LoF	ACYC,ALL,AML,BRCA,GBM	CIViC #43
CEBPA	Act	AML	CIViC #15
TERT	Act	PRCC	CIViC #79
TP53	LoF	ACC,ALL,AML,ANGS,ANSC,BCC,BL,BLADDER,BLCA,BRCA,CCRCC,CEAD,CESC,CHOL,CHRCC,CLLSLL,COAD,COADREAD,CSCC,DLBCLNOS,EGC,ES,ESCA,ESCC,GB,GBC,GBM,GIST,HCC,HGGNOS,HNSC,LGGNOS,LIPO,LMS,LNM,LUAD,LUSC,MBL,MEL,MLYM,MT,NBL,NETNOS,NHL,NPC,NSCLC,OS,OVT,PAAD,PANCREAS,PAST,PCM,PLMESO,PRAD,PRCC,PROSTATE,RCC,READ,SACA,SARCNOS,SCLC,SIC,SKCM,SKIN,SOFT_TISSUE,STAD,STOMACH,THYM,UCEC,UCS,UTUC,VULVA,WDTC,WT	CIViC #45
WT1	LoF	AML,MEL,PAAD	CIViC #49
CBFB	LoF	BRCA
DNMT3A	LoF	AML,BRCA,CCRCC,HCC,LGGNOS,MDS,PCM,PRCC,WDTC	CIViC #18
ETV6	Act	ALL,BLCA,DLBCLNOS	CIViC #1769
FLT3	Act	ALL,AML	CIViC #24
GATA2	Act	AML,HNSC	CIViC #25
IDH1	Act	AML,CHOL,GB,GBM,HCC,HGGNOS,LGGNOS,MBL,MEL,MT,OS,PAST,PCM,PRAD,SKCM	CIViC #26
KIT	Act	AML,GIST,MEL,MGCT	CIViC #29
NPM1	Act	HCC	CIViC #35
NRAS	Act	ALL,AML,ANGS,CHOL,CLLSLL,COAD,COADREAD,GBM,HCC,LGGNOS,LUAD,LUSC,MEL,MGCT,NPC,OVT,PCM,PROSTATE,SKCM,THYM,UCEC,WDTC	CIViC #36
SRSF2	Act	AML	CIViC #5210
STAG2	LoF	AML,BLCA,CCRCC,ES,GBM,LUSC,MBL,PAST,PRCC,UCEC,WDTC	CIViC #8553
U2AF1	Act	AML,CHOL,LUAD,NSCLC,PAAD,PRAD,STAD,UCEC,UCS	CIViC #48
CHEK2	Act	BRCA	CIViC #8950
ASXL1	LoF	AML,BLCA,BRCA,CCRCC,CHOL,CLLSLL,COAD,ESCA,HGGNOS,HNSC,MBL,PAST,PRAD,STOMACH	CIViC #68
CSF3R	LoF	AML,BLADDER,HNSC	CIViC #1239
TET2	LoF	AML,MDS,MLYM,NHL,PCM,RCC,SOFT_TISSUE	CIViC #55
FGF13			CIViC #1872
IDH2	Act	AML,BLCA,CHOL,LGGNOS,OS	CIViC #27
SF3B1	Act	AML,BLCA,BRCA,CHOL,CLLSLL,HCC,LUNG,MBL,MEL,PAAD,PCM,PRAD,SKCM,UM	CIViC #44
TSC1	LoF	BLCA,BRCA,COADREAD,HCC,LUAD,RCC,SKCM,STAD,UTUC	CIViC #46
TSC2	LoF	ANGS,BLCA,CHOL,CHRCC,ESCA,HCC,PANCREAS,PANET,SCLC,STAD	CIViC #47
NSD1	LoF	BLCA,CEAD,ESCA,HNSC,LUSC,MEL,MLYM,NPC,PAST,STOMACH,UCEC
DDX41			CIViC #11932
BCOR	LoF	ACC,AML,CHOL,CLLSLL,COADREAD,GBM,LGGNOS,LUAD,MBL,PAAD,PAST,PGNG,PLMESO,SIC,STAD,THYM,UCEC,UCS	CIViC #12555
FGFR2	Act	BRCA,CHOL,LUSC,SACA,UCEC	CIViC #22

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
CEBPA	Definitive	Autosomal dominant	acute myeloid leukemia	4
GATA2	Definitive	Autosomal dominant	deafness-lymphedema-leukemia syndrome	8
ANKRD26	Strong	Autosomal dominant	acute myeloid leukemia	8
ETV6	Strong	Autosomal dominant	acute myeloid leukemia	7
RUNX1	Strong	Autosomal dominant	acute myeloid leukemia	8
TERC	Strong	Autosomal dominant	acute myeloid leukemia	7
TERT	Strong	Autosomal dominant	acute myeloid leukemia	20
CHEK2	Moderate	Autosomal dominant	acute myeloid leukemia	5
RTEL1	Moderate	Autosomal dominant	acute myeloid leukemia	12
SRP72	Moderate	Autosomal dominant	acute myeloid leukemia	5
CBFB	Limited	Unknown	acute myeloid leukemia	4
CHIC2	No Known Disease Relationship	Unknown	acute myeloid leukemia

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
RUNX1	Orphanet:102724	Acute myeloid leukemia with t(8;21)(q22;q22) translocation
RUNX1	Orphanet:521	Chronic myeloid leukemia
RUNX1	Orphanet:71290	Familial platelet disorder with associated myeloid malignancy
RUNX1	Orphanet:98850	Aggressive systemic mastocytosis
CEBPA	Orphanet:102724	Acute myeloid leukemia with t(8;21)(q22;q22) translocation
CEBPA	Orphanet:319465	Inherited acute myeloid leukemia
CEBPA	Orphanet:319480	Acute myeloid leukemia with CEBPA somatic mutations
TERT	Orphanet:146	Differentiated thyroid carcinoma
TERT	Orphanet:1501	Adrenocortical carcinoma
TERT	Orphanet:1775	Dyskeratosis congenita
TERT	Orphanet:2032	Idiopathic pulmonary fibrosis
TERT	Orphanet:2495	Meningioma
TERT	Orphanet:3322	Hoyeraal-Hreidarsson syndrome
TERT	Orphanet:457246	Clear cell sarcoma of kidney
TERT	Orphanet:618	Familial melanoma
TERT	Orphanet:88	Idiopathic aplastic anemia
TP53	Orphanet:1333	Familial pancreatic carcinoma
TP53	Orphanet:145	Hereditary breast and/or ovarian cancer syndrome
TP53	Orphanet:1501	Adrenocortical carcinoma
TP53	Orphanet:210159	Adult hepatocellular carcinoma
TP53	Orphanet:251576	Gliosarcoma
TP53	Orphanet:251579	Giant cell glioblastoma
TP53	Orphanet:251899	Choroid plexus carcinoma
TP53	Orphanet:2807	Papilloma of choroid plexus
TP53	Orphanet:293199	Pleomorphic rhabdomyosarcoma
TP53	Orphanet:3318	Essential thrombocythemia
TP53	Orphanet:524	Li-Fraumeni syndrome
TP53	Orphanet:52688	Myelodysplastic syndrome
TP53	Orphanet:585909	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
TP53	Orphanet:667662	Breast implant-associated anaplastic large cell lymphoma
TP53	Orphanet:668	Osteosarcoma
TP53	Orphanet:67038	B-cell chronic lymphocytic leukemia
TP53	Orphanet:70573	Small cell lung cancer
TP53	Orphanet:96253	Cushing disease
TP53	Orphanet:99756	Alveolar rhabdomyosarcoma
TP53	Orphanet:99757	Embryonal rhabdomyosarcoma
WT1	Orphanet:220	Denys-Drash syndrome
WT1	Orphanet:242	46,XY complete gonadal dysgenesis
WT1	Orphanet:251510	46,XY partial gonadal dysgenesis
WT1	Orphanet:3097	Meacham syndrome
WT1	Orphanet:347	Frasier syndrome
WT1	Orphanet:654	Nephroblastoma
WT1	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
WT1	Orphanet:83469	Desmoplastic small round cell tumor
WT1	Orphanet:893	WAGR syndrome
CBFB	Orphanet:98829	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
DNMT3A	Orphanet:276621	Sporadic pheochromocytoma/secreting paraganglioma
DNMT3A	Orphanet:404443	Tatton-Brown-Rahman syndrome
DNMT3A	Orphanet:658595	DNMT3A-related microcephalic dwarfism
DNMT3A	Orphanet:86845	Acute myeloid leukaemia with myelodysplasia-related features

Cohort genes → proteins

54 cohort genes, 51 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	3
civic_only	8
multi_evidence	43

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
RUNX1	HGNC:10471	ENSG00000159216	Q01196	Runt-related transcription factor 1	gwas,gencc,clinvar,civic_evidence
CEBPA	HGNC:1833	ENSG00000245848	P49715	CCAAT/enhancer-binding protein alpha	gencc,clinvar,civic_evidence
TERT	HGNC:11730	ENSG00000164362	O14746	Telomerase reverse transcriptase	gencc,clinvar
TP53	HGNC:11998	ENSG00000141510	P04637	Cellular tumor antigen p53	clinvar,civic_evidence
WT1	HGNC:12796	ENSG00000184937	P19544	Wilms tumor protein	clinvar,civic_evidence
CBFB	HGNC:1539	ENSG00000067955	Q13951	Core-binding factor subunit beta	gencc,clinvar
DNMT3A	HGNC:2978	ENSG00000119772	Q9Y6K1	DNA (cytosine-5)-methyltransferase 3A	clinvar,civic_evidence
ETV6	HGNC:3495	ENSG00000139083	P41212	Transcription factor ETV6	gencc,clinvar
FLT3	HGNC:3765	ENSG00000122025	P36888	Receptor-type tyrosine-protein kinase FLT3	clinvar,civic_evidence
GATA2	HGNC:4171	ENSG00000179348	P23769	Endothelial transcription factor GATA-2	gencc,clinvar
IDH1	HGNC:5382	ENSG00000138413	O75874	Isocitrate dehydrogenase [NADP] cytoplasmic	clinvar,civic_evidence
KIT	HGNC:6342	ENSG00000157404	P10721	Mast/stem cell growth factor receptor Kit	clinvar,civic_evidence
NPM1	HGNC:7910	ENSG00000181163	P06748	Nucleophosmin	clinvar,civic_evidence
NRAS	HGNC:7989	ENSG00000213281	P01111	GTPase NRas	clinvar,civic_evidence
SRSF2	HGNC:10783	ENSG00000161547	Q01130	Serine/arginine-rich splicing factor 2	civic_evidence
SRP72	HGNC:11303	ENSG00000174780	O76094	Signal recognition particle subunit SRP72	gencc
STAG2	HGNC:11355	ENSG00000101972	Q8N3U4	Cohesin subunit SA-2	civic_evidence
TERC	HGNC:11727	ENSG00000270141		telomerase RNA component	gencc
U2AF1	HGNC:12453	ENSG00000160201	Q01081	Splicing factor U2AF 35 kDa subunit	civic_evidence
RTEL1	HGNC:15888	ENSG00000258366	Q9NZ71	Regulator of telomere elongation helicase 1	gencc
CHEK2	HGNC:16627	ENSG00000183765	O96017	Serine/threonine-protein kinase Chk2	gencc
ASXL1	HGNC:18318	ENSG00000171456	Q8IXJ9	Polycomb group protein ASXL1	civic_evidence
CHIC2	HGNC:1935	ENSG00000109220	Q9UKJ5	Cysteine-rich hydrophobic domain-containing protein 2	gencc
CSF3R	HGNC:2439	ENSG00000119535	Q99062	Granulocyte colony-stimulating factor receptor	civic_evidence
TET2	HGNC:25941	ENSG00000168769	Q6N021	Methylcytosine dioxygenase TET2	civic_evidence
ANKRD26	HGNC:29186	ENSG00000107890	Q9UPS8	Ankyrin repeat domain-containing protein 26	gencc
FGF13	HGNC:3670	ENSG00000129682	Q92913	Fibroblast growth factor 13	civic_evidence
IDH2	HGNC:5383	ENSG00000182054	P48735	Isocitrate dehydrogenase [NADP], mitochondrial	civic_evidence
SF3B1	HGNC:10768	ENSG00000115524	O75533	Splicing factor 3B subunit 1	clinvar
SF3B2	HGNC:10769	ENSG00000087365	Q13435	Splicing factor 3B subunit 2	clinvar
SH3GL1	HGNC:10830	ENSG00000141985	Q99961	Endophilin-A2	clinvar
SLC7A10	HGNC:11058	ENSG00000130876	Q9NS82	Asc-type amino acid transporter 1	clinvar
TSC1	HGNC:12362	ENSG00000165699	Q92574	Hamartin	clinvar
TSC2	HGNC:12363	ENSG00000103197	P49815	Tuberin	clinvar
NSD1	HGNC:14234	ENSG00000165671	Q96L73	Histone-lysine N-methyltransferase, H3 lysine-36 specific	clinvar
MLLT10	HGNC:16063	ENSG00000078403	P55197	Protein AF-10	clinvar
TGM6	HGNC:16255	ENSG00000166948	O95932	Protein-glutamine gamma-glutamyltransferase 6	clinvar
DDX41	HGNC:18674	ENSG00000183258	Q9UJV9	Probable ATP-dependent RNA helicase DDX41	clinvar
BCOR	HGNC:20893	ENSG00000183337	Q6W2J9	BCL-6 corepressor	clinvar
MFSD11	HGNC:25458	ENSG00000092931	O43934	UNC93-like protein MFSD11	clinvar
TMEM127	HGNC:26038	ENSG00000135956	O75204	Transmembrane protein 127	clinvar
FANCD2	HGNC:3585	ENSG00000144554	Q9BXW9	Fanconi anemia group D2 protein	clinvar
FGFR2	HGNC:3689	ENSG00000066468	P21802	Fibroblast growth factor receptor 2	gwas
GGCX	HGNC:4247	ENSG00000115486	P38435	Vitamin K-dependent gamma-carboxylase	clinvar
RTEL1-TNFRSF6B	HGNC:44095	ENSG00000026036		RTEL1-TNFRSF6B readthrough (NMD candidate)	clinvar
RUNX1-AS1	HGNC:56821	ENSG00000286153		RUNX1 antisense RNA 1	clinvar
INSL6	HGNC:6089	ENSG00000120210	Q9Y581	Insulin-like peptide INSL6	clinvar
JAK1	HGNC:6190	ENSG00000162434	P23458	Tyrosine-protein kinase JAK1	gwas
JAK2	HGNC:6192	ENSG00000096968	O60674	Tyrosine-protein kinase JAK2	clinvar
KLK2	HGNC:6363	ENSG00000167751	P20151	Kallikrein-2	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
RUNX1	Runt-related transcription factor 1	Forms the heterodimeric complex core-binding factor (CBF) with CBFB.
CEBPA	CCAAT/enhancer-binding protein alpha	Transcription factor that coordinates proliferation arrest and the differentiation of myeloid progenitors, adipocytes, hepatocytes, and cells of the lung and the placenta.
TERT	Telomerase reverse transcriptase	Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes.
TP53	Cellular tumor antigen p53	Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence.
WT1	Wilms tumor protein	Transcription factor that plays an important role in cellular development and cell survival.
CBFB	Core-binding factor subunit beta	Forms the heterodimeric complex core-binding factor (CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3).
DNMT3A	DNA (cytosine-5)-methyltransferase 3A	Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development.
ETV6	Transcription factor ETV6	Transcriptional repressor; binds to the DNA sequence 5’-CCGGAAGT-3'.
FLT3	Receptor-type tyrosine-protein kinase FLT3	Tyrosine-protein kinase that acts as a cell-surface receptor for the cytokine FLT3LG and regulates differentiation, proliferation and survival of hematopoietic progenitor cells and of dendritic cells.
GATA2	Endothelial transcription factor GATA-2	Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells.
IDH1	Isocitrate dehydrogenase [NADP] cytoplasmic	Catalyzes the NADP(+)-dependent oxidative decarboxylation of isocitrate (D-threo-isocitrate) to 2-ketoglutarate (2-oxoglutarate), which is required by other enzymes such as the phytanoyl-CoA dioxygenase.
KIT	Mast/stem cell growth factor receptor Kit	Tyrosine-protein kinase that acts as a cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell develo…
NPM1	Nucleophosmin	Involved in diverse cellular processes such as ribosome biogenesis, centrosome duplication, protein chaperoning, histone assembly, cell proliferation, and regulation of tumor suppressors p53/TP53 and ARF.
NRAS	GTPase NRas	Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.
SRSF2	Serine/arginine-rich splicing factor 2	Necessary for the splicing of pre-mRNA.
SRP72	Signal recognition particle subunit SRP72	Component of the signal recognition particle (SRP) complex, a ribonucleoprotein complex that mediates the cotranslational targeting of secretory and membrane proteins to the endoplasmic reticulum (ER).
STAG2	Cohesin subunit SA-2	Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication.
U2AF1	Splicing factor U2AF 35 kDa subunit	Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3’-splice site selection.
RTEL1	Regulator of telomere elongation helicase 1	A probable ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability.
CHEK2	Serine/threonine-protein kinase Chk2	Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks.
ASXL1	Polycomb group protein ASXL1	Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG).
CSF3R	Granulocyte colony-stimulating factor receptor	Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation.
TET2	Methylcytosine dioxygenase TET2	Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation.
ANKRD26	Ankyrin repeat domain-containing protein 26	Acts as a regulator of adipogenesis.
FGF13	Fibroblast growth factor 13	Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules.
IDH2	Isocitrate dehydrogenase [NADP], mitochondrial	Plays a role in intermediary metabolism and energy production.
SF3B1	Splicing factor 3B subunit 1	Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs.
SF3B2	Splicing factor 3B subunit 2	Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs.
SH3GL1	Endophilin-A2	Implicated in endocytosis.
SLC7A10	Asc-type amino acid transporter 1	Associates with SLC3A2/4F2hc to form a functional heterodimeric complex that translocates small neutral L- and D-amino acids across the plasma membrane.
TSC1	Hamartin	Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolec…
TSC2	Tuberin	Catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule…
NSD1	Histone-lysine N-methyltransferase, H3 lysine-36 specific	Histone methyltransferase that dimethylates Lys-36 of histone H3 (H3K36me2).
MLLT10	Protein AF-10	Probably involved in transcriptional regulation.
TGM6	Protein-glutamine gamma-glutamyltransferase 6	Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.
DDX41	Probable ATP-dependent RNA helicase DDX41	Multifunctional protein that participates in many aspects of cellular RNA metabolism.
BCOR	BCL-6 corepressor	Transcriptional corepressor.
TMEM127	Transmembrane protein 127	Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1.
FANCD2	Fanconi anemia group D2 protein	Required for maintenance of chromosomal stability.
FGFR2	Fibroblast growth factor receptor 2	Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic de…
GGCX	Vitamin K-dependent gamma-carboxylase	Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant epoxidation of vitamin K hydroquinone to vitamin K epoxide.
INSL6	Insulin-like peptide INSL6	May have a role in sperm development and fertilization.
JAK1	Tyrosine-protein kinase JAK1	Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway.
JAK2	Tyrosine-protein kinase JAK2	Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications.
KLK2	Kallikrein-2	Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin.
KRAS	GTPase KRas	Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.
LPP	Lipoma-preferred partner	May play a structural role at sites of cell adhesion in maintaining cell shape and motility.
NUP214	Nuclear pore complex protein Nup214	Part of the nuclear pore complex.
PDGFRA	Platelet-derived growth factor receptor alpha	Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis.

Protein-family classification

Druggable: 17 · Difficult: 12 · Unknown: 25 · Druggable fraction: 0.31

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Kinase	7	3.6×	0.031
Complement	1	5.0×	0.771
Ion channel	1	2.1×	0.771
Scaffold/PPI	4	1.3×	0.771
Transcription factor	8	1.2×	0.771
Transporter	1	1.4×	0.795
Antibody/Immunoglobulin	2	1.1×	0.795
Enzyme (other)	4	0.9×	0.837
Protease	1	0.7×	0.863
Other/Unknown	25	0.8×	0.939

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
RUNX1	Transcription factor	no		AML1_Runt, p53-like_TF_DNA-bd_sf, p53/RUNT-type_TF_DNA-bd_sf
CEBPA	Other/Unknown	no		bZIP, C/EBP_chordates, C/EBP
TERT	Other/Unknown	no		RT_dom, Telomerase_RT, Telomerase_RBD
TP53	Transcription factor	no		p53_tumour_suppressor, p53-like_TF_DNA-bd_sf, p53_tetrameristn
WT1	Transcription factor	no		Wilms_tumour_N, Znf_C2H2_type, Znf_C2H2_sf
CBFB	Other/Unknown	no		CBF_beta, CBF_bsu_sf
DNMT3A	Complement	yes	2.1.1.37	PWWP_dom, C5_MeTfrase, C5_DNA_meth_AS
ETV6	Other/Unknown	no		Ets_dom, Pointed_dom, SAM/pointed_sf
FLT3	Kinase	yes	2.7.10.1	Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Tyr_kinase_rcpt_3_CS
GATA2	Transcription factor	no		Znf_GATA, Znf_NHR/GATA, TF_GATA-2/3
IDH1	Enzyme (other)	yes	1.1.1.42	Isocitrate_DH_NADP, IsoCit/isopropylmalate_DH_CS, IsoPropMal-DH-like_dom
KIT	Kinase	yes	2.7.10.1	Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Tyr_kinase_rcpt_3_CS
NPM1	Other/Unknown	no		Nucleoplasmin, Nucleoplasmin_core_dom, NPM1_C
NRAS	Other/Unknown	no		Small_GTPase, Small_GTP-bd, Small_GTPase_Ras-type
SRSF2	Other/Unknown	no		RRM_dom, RRM_euk-type, Nucleotide-bd_a/b_plait_sf
SRP72	Other/Unknown	no		TPR-like_helical_dom_sf, Signal_recog_part_SRP72_RNA-bd, TPR_rpt
STAG2	Other/Unknown	no		STAG, ARM-type_fold, SCD
TERC	Other/Unknown	no
U2AF1	Transcription factor	no		RRM_dom, Znf_CCCH, RRM_euk-type
RTEL1	Other/Unknown	no		Helicase-like_DEXD_c2, ATP-dep_Helicase_C, RAD3-like_helicase_DEAD
CHEK2	Kinase	yes	2.7.11.1	FHA_dom, Prot_kinase_dom, Ser/Thr_kinase_AS
ASXL1	Other/Unknown	no		Asxl_HARE-HTH, ASX/ASX-like, ASX-like_PHD
CHIC2	Other/Unknown	no		Golgin_A_7/ERF4, CHIC1/2
CSF3R	Antibody/Immunoglobulin	yes		Hematopoietin_rcpt_Gp130_CS, FN3_dom, IgC2-like_lig-bd
TET2	Other/Unknown	no		2OGFeDO_JBP1/TET_oxygenase_dom, TET1/2/3, TET_oxygenase
ANKRD26	Scaffold/PPI	no		Ankyrin_rpt, DUF3496, Ankyrin_rpt-contain_sf
FGF13	Other/Unknown	no		Fibroblast_GF_fam, IL1/FGF
IDH2	Enzyme (other)	yes	1.1.1.42	Isocitrate_DH_NADP, IsoCit/isopropylmalate_DH_CS, IsoPropMal-DH-like_dom
SF3B1	Other/Unknown	no		ARM-like, SF3b_su1, ARM-type_fold
SF3B2	Other/Unknown	no		SAP_dom, PSP_pro-rich, DUF382
SH3GL1	Scaffold/PPI	no		SH3_domain, BAR_dom, AH/BAR_dom_sf
SLC7A10	Transporter	yes		AA/rel_permease1, AminoAcid_Transporter
TSC1	Other/Unknown	no		Hamartin
TSC2	Other/Unknown	no		Rap/Ran_GAP_dom, Tuberin, ARM-like
NSD1	Transcription factor	no	2.1.1.357	PWWP_dom, SET_dom, Znf_PHD
MLLT10	Transcription factor	no		Znf_PHD, Znf_FYVE_PHD, Znf_RING/FYVE/PHD
TGM6	Antibody/Immunoglobulin	yes	2.3.2.13	Transglutaminase_N, Transglutaminase-like, Transglutaminase_C
DDX41	Other/Unknown	no		Helicase_C-like, DEAD/DEAH_box_helicase_dom, Helicase_ATP-bd
BCOR	Scaffold/PPI	no		Ankyrin_rpt, BCOR, PUFD
MFSD11	Ion channel	yes		Ion_channel_UNC-93, MFS_trans_sf, UNC-93-like_regulator
TMEM127	Other/Unknown	no		TMEM127, TMEM127_TM
FANCD2	Other/Unknown	no		FANCD2
FGFR2	Kinase	yes	2.7.10.1	Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Ig_sub2
GGCX	Enzyme (other)	yes	4.1.1.90	VKG_COase, HTTM-like, RmlC_Cupin_sf
RTEL1-TNFRSF6B	Other/Unknown	no
RUNX1-AS1	Other/Unknown	no
INSL6	Other/Unknown	no		Insulin-like, Insulin-like_pep_6, Insulin_CS
JAK1	Kinase	yes	2.7.10.2	FERM_domain, Prot_kinase_dom, SH2
JAK2	Kinase	yes	2.7.10.2	FERM_domain, Prot_kinase_dom, SH2
KLK2	Protease	yes		Trypsin_dom, Peptidase_S1A, Peptidase_S1_PA

Expression context

Cohort genes with no expression data: 0.

50 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	54
unknown	0

Top tissues across cohort

Tissue	Cohort genes
sural nerve	8
male germ line stem cell (sensu Vertebrata) in testis	7
ventricular zone	6
calcaneal tendon	6
left testis	5
right testis	5
tendon of biceps brachii	4
secondary oocyte	4
tibia	4
cerebellar hemisphere	4
colonic epithelium	4
monocyte	4
buccal mucosa cell	4
mucosa of paranasal sinus	3
ganglionic eminence	3
adrenal tissue	3
epithelium of nasopharynx	3
bone marrow cell	3
right hemisphere of cerebellum	3
lower esophagus mucosa	3

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RUNX1	253	ubiquitous	marker	olfactory segment of nasal mucosa, epithelium of bronchus, mucosa of paranasal sinus
CEBPA	258	ubiquitous	marker	nipple, upper arm skin, penis
TERT	105	broad	yes	stromal cell of endometrium, type B pancreatic cell, olfactory bulb
TP53	223	ubiquitous	marker	ventricular zone, ganglionic eminence, tendon of biceps brachii
WT1	168	broad	marker	germinal epithelium of ovary, renal glomerulus, metanephric glomerulus
CBFB	298	ubiquitous	marker	secondary oocyte, sural nerve, tibia
DNMT3A	223	ubiquitous	marker	sural nerve, ganglionic eminence, ventricular zone
ETV6	252	ubiquitous	marker	mucosa of paranasal sinus, parotid gland, mammary duct
FLT3	166	broad	marker	male germ line stem cell (sensu Vertebrata) in testis, cerebellar hemisphere, cerebellar cortex
GATA2	273	ubiquitous	marker	seminal vesicle, right lung, left uterine tube
IDH1	294	ubiquitous	marker	corpus epididymis, jejunal mucosa, adrenal tissue
KIT	263	broad	marker	lateral nuclear group of thalamus, secondary oocyte, oocyte
NPM1	276	ubiquitous	marker	calcaneal tendon, left ovary, ventricular zone
NRAS	278	ubiquitous	marker	gingival epithelium, epithelium of nasopharynx, secondary oocyte
SRSF2	295	ubiquitous	marker	tibia, embryo, tendon of biceps brachii
SRP72	295	ubiquitous	marker	pylorus, tendon of biceps brachii, visceral pleura
STAG2	299	ubiquitous	marker	mucosa of paranasal sinus, calcaneal tendon, sural nerve
TERC	113	ubiquitous	yes	bone marrow cell, colonic epithelium, male germ line stem cell (sensu Vertebrata) in testis
U2AF1	134	ubiquitous	marker	adenohypophysis, left uterine tube, bone marrow
RTEL1	134	ubiquitous	yes	sural nerve, right hemisphere of cerebellum, cerebellar hemisphere
CHEK2	183	ubiquitous	marker	primordial germ cell in gonad, lower esophagus mucosa, male germ line stem cell (sensu Vertebrata) in testis
ASXL1	294	ubiquitous	marker	sural nerve, sperm, adrenal tissue
CHIC2	268	ubiquitous	marker	right testis, left testis, stromal cell of endometrium
CSF3R	192	broad	marker	granulocyte, monocyte, blood
TET2	249	ubiquitous	marker	palpebral conjunctiva, amniotic fluid, epithelium of nasopharynx
ANKRD26	206	ubiquitous	marker	male germ line stem cell (sensu Vertebrata) in testis, calcaneal tendon, sural nerve
FGF13	268	ubiquitous	marker	endothelial cell, dorsal root ganglion, cortical plate
IDH2	292	ubiquitous	marker	apex of heart, gastrocnemius, hindlimb stylopod muscle
SF3B1	295	ubiquitous	marker	tibia, ventricular zone, epithelium of nasopharynx
SF3B2	292	ubiquitous	marker	ventricular zone, left testis, right testis

Protein interactions among cohort

Intra-cohort edges: 74.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TP53	22,736
KRAS	14,509
NRAS	7,598
NPM1	7,589
JAK2	6,197
KIT	6,087
CEBPA	5,784
TERT	5,717
IDH1	5,464
TSC1	5,445

Intra-cohort edges

A	B	Sources
ANKRD26	DDX41	string_interaction
ANKRD26	ETV6	string_interaction
ANKRD26	GATA2	string_interaction
ANKRD26	NRAS	intact
ANKRD26	RUNX1	string_interaction
ANKRD26	SRP72	string_interaction
ASXL1	DNMT3A	string_interaction
ASXL1	ETV6	string_interaction
ASXL1	FLT3	string_interaction
ASXL1	IDH1	string_interaction
ASXL1	IDH2	string_interaction
ASXL1	JAK2	string_interaction
ASXL1	NPM1	string_interaction
ASXL1	RUNX1	string_interaction
ASXL1	SRSF2	string_interaction
ASXL1	TET2	string_interaction
ASXL1	U2AF1	string_interaction
CBFB	RUNX1	biogrid_interaction, intact, string_interaction
CEBPA	CSF3R	string_interaction
CEBPA	FLT3	string_interaction
CEBPA	GATA2	string_interaction
CEBPA	RUNX1	string_interaction
CEBPA	TP53	string_interaction
CHEK2	SF3B1	intact
CHEK2	TP53	intact, string_interaction
CHIC2	ETV6	string_interaction
CHIC2	PDGFRA	string_interaction
CSF3R	JAK1	biogrid_interaction
CSF3R	JAK2	string_interaction
CSF3R	KIT	string_interaction
DDX41	SF3B1	intact
DDX41	SRP72	string_interaction
DNMT3A	FLT3	string_interaction
DNMT3A	TET2	string_interaction
DNMT3A	U2AF1	string_interaction
ETV6	FLT3	string_interaction
ETV6	JAK2	string_interaction
ETV6	NPM1	string_interaction
ETV6	RUNX1	string_interaction
ETV6	SRP72	string_interaction
ETV6	TET2	string_interaction
FANCD2	RUNX1	biogrid_interaction
FLT3	IDH1	string_interaction
FLT3	IDH2	string_interaction
FLT3	NPM1	string_interaction
FLT3	RUNX1	string_interaction
FLT3	TET2	string_interaction
GATA2	RUNX1	string_interaction
GATA2	SRP72	string_interaction
IDH1	IDH2	biogrid_interaction

Structural data

PDB: 44 · AlphaFold-only: 7 · No structure: 3

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
KRAS	P01116	511
TP53	P04637	313
JAK2	O60674	164
SF3B1	O75533	74
FGFR2	P21802	63
IDH1	O75874	61
KIT	P10721	52
JAK1	P23458	51
SF3B2	Q13435	50
ETV6	P41212	44
DNMT3A	Q9Y6K1	43
CHEK2	O96017	38
NRAS	P01111	35
GGCX	P38435	29
WT1	P19544	28
TERT	O14746	23
CBFB	Q13951	20
PDGFRA	P16234	15
FANCD2	Q9BXW9	13
FLT3	P36888	11
IDH2	P48735	11
STAG2	Q8N3U4	9
NPM1	P06748	8
SRP72	O76094	7
NUP214	P35658	7
TET2	Q6N021	6
MLLT10	P55197	6
RUNX1	Q01196	5
TSC1	Q92574	5
DDX41	Q9UJV9	5

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
TGM6	O95932	90.95
MFSD11	O43934	87.72
SH3GL1	Q99961	84.43
TMEM127	O75204	77.38
ANKRD26	Q9UPS8	62.91
LPP	Q93052	60.99
INSL6	Q9Y581	54.46

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 450. Enrichment computed across 54 evidence-associated genes (43 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 43 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
RAF/MAP kinase cascade	8	11.4×	2e-04	FLT3, KIT, NRAS, FGFR2, JAK1, JAK2, KRAS, PDGFRA
Signaling by CSF3 (G-CSF)	4	53.1×	2e-04	CSF3R, JAK1, JAK2, KRAS
Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants	4	48.3×	2e-04	KIT, NRAS, JAK2, KRAS
RUNX3 regulates p14-ARF	3	79.7×	7e-04	RUNX1, CBFB, KRAS
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants	3	61.3×	0.001	NRAS, KRAS, PDGFRA
Signaling by PDGFRA extracellular domain mutants	3	61.3×	0.001	NRAS, KRAS, PDGFRA
Erythropoietin activates RAS	3	53.1×	0.001	NRAS, JAK2, KRAS
Signaling by FLT3 ITD and TKD mutants	3	53.1×	0.001	FLT3, NRAS, KRAS
Transcriptional regulation of granulopoiesis	5	14.6×	0.001	RUNX1, CEBPA, CBFB, GATA2, CSF3R
Signaling by SCF-KIT	4	23.1×	0.001	KIT, NRAS, JAK2, KRAS
RUNX3 regulates RUNX1-mediated transcription	2	177.1×	0.001	RUNX1, CBFB
Signaling by RAS GAP mutants	2	177.1×	0.001	NRAS, KRAS
Signaling by RAS GTPase mutants	2	177.1×	0.001	NRAS, KRAS
Signaling by FLT3 fusion proteins	3	39.8×	0.002	ETV6, NRAS, KRAS
Activation of RAS in B cells	2	106.2×	0.003	NRAS, KRAS
Inhibition of TSC complex formation by AKT (PKB)	2	106.2×	0.003	TSC1, TSC2
RUNX1 regulates expression of components of tight junctions	2	106.2×	0.003	RUNX1, CBFB
RUNX1 regulates transcription of genes involved in interleukin signaling	2	106.2×	0.003	RUNX1, CBFB
RUNX2 regulates genes involved in differentiation of myeloid cells	2	106.2×	0.003	RUNX1, CBFB
SHC-mediated cascade:FGFR2	3	33.2×	0.003	NRAS, FGFR2, KRAS
FRS-mediated FGFR2 signaling	3	30.6×	0.003	NRAS, FGFR2, KRAS
Inactivation of CSF3 (G-CSF) signaling	3	30.6×	0.003	CSF3R, JAK1, JAK2
RUNX1 regulates estrogen receptor mediated transcription	2	88.5×	0.004	RUNX1, CBFB
RUNX1 regulates transcription of genes involved in BCR signaling	2	88.5×	0.004	RUNX1, CBFB
RUNX1 regulates transcription of genes involved in WNT signaling	2	88.5×	0.004	RUNX1, CBFB
Downstream signal transduction	3	26.6×	0.004	NRAS, KRAS, PDGFRA
FLT3 Signaling	3	24.1×	0.004	FLT3, NRAS, KRAS
RAS signaling downstream of NF1 loss-of-function variants	2	75.9×	0.004	NRAS, KRAS
Estrogen-stimulated signaling through PRKCZ	2	75.9×	0.004	NRAS, KRAS
RAF activation	3	23.4×	0.004	NRAS, JAK2, KRAS

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 48 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
cytokine-mediated signaling pathway	7	19.1×	6e-05	CEBPA, FLT3, KIT, CSF3R, JAK1, JAK2, KRAS
myeloid cell differentiation	4	54.0×	2e-04	RUNX1, CEBPA, CBFB, TET2
protein autophosphorylation	6	18.2×	2e-04	FLT3, KIT, CHEK2, FGFR2, JAK2, PDGFRA
positive regulation of transcription by RNA polymerase II	14	4.3×	4e-04	RUNX1, CEBPA, TP53, WT1, CBFB, GATA2, NPM1, SF3B1 (+6 more)
glyoxylate cycle	2	351.1×	0.001	IDH1, IDH2
type II interferon-mediated signaling pathway	3	75.2×	0.001	TP53, JAK1, JAK2
interleukin-6-mediated signaling pathway	3	70.2×	0.001	CEBPA, JAK1, JAK2
replicative senescence	3	62.0×	0.001	TERT, TP53, CHEK2
negative regulation of cell population proliferation	8	7.0×	0.001	CEBPA, TP53, WT1, NPM1, TSC1, TSC2, TMEM127, JAK2
positive regulation of miRNA transcription	4	24.2×	0.002	TERT, TP53, WT1, GATA2
protein import into nucleus	5	15.0×	0.002	TERT, TP53, NPM1, TSC2, NUP214
hemopoiesis	4	22.3×	0.002	RUNX1, FLT3, KIT, ASXL1
positive regulation of tyrosine phosphorylation of STAT protein	3	45.8×	0.002	FLT3, KIT, JAK2
response to antibiotic	3	43.9×	0.002	TP53, JAK1, JAK2
negative regulation of CD4-positive, alpha-beta T cell differentiation	2	175.5×	0.002	RUNX1, CBFB
hematopoietic progenitor cell differentiation	4	19.8×	0.002	TP53, GATA2, KIT, PDGFRA
hematopoietic stem cell proliferation	3	40.5×	0.002	RUNX1, CEBPA, ETV6
negative regulation of transcription by RNA polymerase II	11	4.1×	0.003	RUNX1, CEBPA, TP53, WT1, CBFB, DNMT3A, ETV6, GATA2 (+3 more)
isocitrate metabolic process	2	140.4×	0.003	IDH1, IDH2
positive regulation of CD8-positive, alpha-beta T cell differentiation	2	140.4×	0.003	RUNX1, CBFB
cellular response to bisphenol A	2	140.4×	0.003	DNMT3A, CHEK2
negative regulation of TOR signaling	3	35.1×	0.003	TSC1, TSC2, TMEM127
erythropoietin-mediated signaling pathway	2	117.0×	0.004	KIT, JAK2
negative regulation of brown fat cell differentiation	2	117.0×	0.004	GATA2, SLC7A10
positive regulation of protein localization to nucleolus	2	117.0×	0.004	TERT, NPM1
myeloid progenitor cell differentiation	2	100.3×	0.005	FLT3, KIT
branching morphogenesis of a nerve	2	100.3×	0.005	FGF13, FGFR2
positive regulation of vascular associated smooth muscle cell proliferation	3	27.0×	0.005	TERT, FGFR2, JAK2
peptidyl-tyrosine phosphorylation	3	26.3×	0.005	FLT3, FGFR2, PDGFRA
RNA splicing	5	9.2×	0.005	WT1, SF3B1, SF3B2, SRSF2, U2AF1

Therapeutics

Drugs indicated for this disease

9 approved, 71 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Azacitidine	Approved (phase 4)
Cytarabine	Approved (phase 4)
Daunorubicin	Approved (phase 4)
Gemtuzumab Ozogamicin	Approved (phase 4)
Ivosidenib	Approved (phase 4)
Midostaurin	Approved (phase 4)
Olutasidenib	Approved (phase 4)
Sargramostim	Approved (phase 4)
Tagraxofusp	Approved (phase 4)
Aclarubicin	Phase 3 (in late-stage trials)
Aldesleukin	Phase 3 (in late-stage trials)
Alemtuzumab	Phase 3 (in late-stage trials)
Amsacrine	Phase 3 (in late-stage trials)
Arsenic Trioxide	Phase 3 (in late-stage trials)
Asparaginase	Phase 3 (in late-stage trials)
Asparaginase Erwinia Chrysanthemi	Phase 3 (in late-stage trials)
Bortezomib	Phase 3 (in late-stage trials)
Busulfan	Phase 3 (in late-stage trials)
CPI 613	Phase 3 (in late-stage trials)
CYTARABINE 5’-PHOSPHATE	Phase 3 (in late-stage trials)
Carvedilol	Phase 3 (in late-stage trials)
Cladribine	Phase 3 (in late-stage trials)
Clofarabine	Phase 3 (in late-stage trials)
Crenolanib	Phase 3 (in late-stage trials)
Cyclosporine	Phase 3 (in late-stage trials)
Dasatinib Anhydrous	Phase 3 (in late-stage trials)
Decitabine	Phase 3 (in late-stage trials)
Dexamethasone	Phase 3 (in late-stage trials)
Dociparstat Sodium	Phase 3 (in late-stage trials)
Dorgenmeltucel-L	Phase 3 (in late-stage trials)
Elacytarabine	Phase 3 (in late-stage trials)
Enalapril	Phase 3 (in late-stage trials)
Entospletinib	Phase 3 (in late-stage trials)
Epoetin Alfa	Phase 3 (in late-stage trials)
Etoposide	Phase 3 (in late-stage trials)
Filgrastim	Phase 3 (in late-stage trials)
Fludarabine	Phase 3 (in late-stage trials)
Fludarabine Phosphate	Phase 3 (in late-stage trials)
Galinpepimut-S	Phase 3 (in late-stage trials)
Gemtuzumab	Phase 3 (in late-stage trials)
Gilteritinib	Phase 3 (in late-stage trials)
Glasdegib	Phase 3 (in late-stage trials)
Guadecitabine	Phase 3 (in late-stage trials)
Hydrocortisone	Phase 3 (in late-stage trials)
IODINE I 131 APAMISTAMAB	Phase 3 (in late-stage trials)
Idarubicin	Phase 3 (in late-stage trials)
Idasanutlin	Phase 3 (in late-stage trials)
Lenalidomide	Phase 3 (in late-stage trials)
Lenograstim	Phase 3 (in late-stage trials)
Lomustine	Phase 3 (in late-stage trials)
Magrolimab	Phase 3 (in late-stage trials)
Melphalan	Phase 3 (in late-stage trials)
Methotrexate	Phase 3 (in late-stage trials)
Mitoxantrone	Phase 3 (in late-stage trials)
Molgramostim	Phase 3 (in late-stage trials)
Morphine	Phase 3 (in late-stage trials)
Mycophenolate Mofetil	Phase 3 (in late-stage trials)
Norethandrolone	Phase 3 (in late-stage trials)
Omacetaxine Mepesuccinate	Phase 3 (in late-stage trials)
Pevonedistat	Phase 3 (in late-stage trials)
Pracinostat	Phase 3 (in late-stage trials)
Prednisone	Phase 3 (in late-stage trials)
Quizartinib	Phase 3 (in late-stage trials)
Recombinant Human Thrombopoietin	Phase 3 (in late-stage trials)
Ruserontinib	Phase 3 (in late-stage trials)
Sapacitabine	Phase 3 (in late-stage trials)
Selinexor	Phase 3 (in late-stage trials)
Thioguanine	Phase 3 (in late-stage trials)
Tipifarnib	Phase 3 (in late-stage trials)
Treosulfan	Phase 3 (in late-stage trials)
Tretinoin	Phase 3 (in late-stage trials)
Uproleselan	Phase 3 (in late-stage trials)
Valspodar	Phase 3 (in late-stage trials)
Venetoclax	Phase 3 (in late-stage trials)
Vincristine	Phase 3 (in late-stage trials)
Visilizumab	Phase 3 (in late-stage trials)
Volasertib	Phase 3 (in late-stage trials)
Voriconazole	Phase 3 (in late-stage trials)
Vorinostat	Phase 3 (in late-stage trials)
Vosaroxin	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Acetaminophen, Acetylcysteine, Alisertib, Allopurinol, Alvocidib, Amonafide, Amphotericin B, Anidulafungin, Aprepitant, Ascorbic Acid, Avapritinib, Axitinib, Azathioprine, Barasertib, Belinostat, Bexarotene, Bisantrene, Camrelizumab, Carboplatin, Cedazuridine, Cholecalciferol, Cobicistat, Crisantaspase, Crizotinib, Daratumumab, Deferasirox, Denileukin Diftitox, Dexrazoxane, Dinaciclib, Diphenhydramine, Doxorubicin, Durvalumab, Eltrombopag, Enasidenib, Entinostat, Erlotinib, Everolimus, Ficlatuzumab, Fish Oil Triglycerides, Gedatolisib, Gefitinib, Hydroxyurea, Ibrutinib, Ifosfamide, Imatinib, Isatuximab, Isavuconazole, Itraconazole, Lestaurtinib, Levetiracetam, Lintuzumab, Motixafortide, Mycophenolic Acid, Nilotinib, Nintedanib, Nivolumab, Nogapendekin Alfa, Obatoclax, Olaparib, Ombipepimut-S, Pacritinib, Palifermin, Panobinostat, Pazopanib, Pegargiminase, Pegaspargase, Pegfilgrastim, Pegzilarginase, Pembrolizumab, Pioglitazone, Ponatinib, Relatlimab, Revumenib, Ribavirin, Rituximab, Ruxolitinib, Sabatolimab, Sirolimus, Sodium Chloride, Sorafenib, Sulindac, Tacrolimus Anhydrous, Tamibarotene, Temozolomide, Temsirolimus, Thiotepa, Topotecan, Trametinib, Trastuzumab, Tucidinostat, Valproic Acid, Vandetanib, Vemurafenib, Vinblastine, Vismodegib.

Drug target analysis

Approved (phase 4): 18 · Phase ≥3: 18 · Phased (≥1): 25 · Undrugged: 29

Druggability breadth: 35 of 54 evidence-associated genes (65%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
RUNX1	APOMORPHINE HYDROCHLORIDE
TERT	BERBERINE
TP53	NITROFURANTOIN
CBFB	APOMORPHINE HYDROCHLORIDE
ETV6	CERITINIB
FLT3	PONATINIB
IDH1	ENASIDENIB
KIT	PONATINIB
NPM1	CERITINIB
CHEK2	NERATINIB
TET2	VADADUSTAT
IDH2	ENASIDENIB
NSD1	VENETOCLAX
FGFR2	PONATINIB
JAK1	FEDRATINIB
JAK2	FEDRATINIB
KRAS	VEMURAFENIB
PDGFRA	PONATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TP53	196	4
FLT3	143	4
JAK2	100	4
KIT	99	4
PDGFRA	77	4
JAK1	68	4
FGFR2	59	4
CHEK2	30	4
KRAS	11	4
TERT	10	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
APOMORPHINE HYDROCHLORIDE	4	CBFB, RUNX1
BERBERINE	4	TERT
DOXORUBICIN	4	TERT
NITROFURANTOIN	4	TP53
DIOSMIN	4	TP53
VERTEPORFIN	4	TP53
CANDESARTAN CILEXETIL	4	TP53
DIENESTROL	4	TP53
CLOTRIMAZOLE	4	TP53
COLCHICINE	4	TP53
NABUMETONE	4	TP53
SALMETEROL XINAFOATE	4	TP53
AMIODARONE HYDROCHLORIDE	4	TP53
FURAZOLIDONE	4	TP53
AMOXAPINE	4	TP53
RALOXIFENE HYDROCHLORIDE	4	TP53
NICARDIPINE HYDROCHLORIDE	4	TP53
SULCONAZOLE NITRATE	4	TP53
PYRITHIONE ZINC	4	TP53
LACTIC ACID	4	TP53
OXYMETHOLONE	4	TP53
CHLOROXINE	4	TP53
PROPIOLACTONE	4	TP53
CLOMIPRAMINE HYDROCHLORIDE	4	TP53
PHENYL AMINOSALICYLATE	4	TP53
THIORIDAZINE HYDROCHLORIDE	4	TP53
AMITRIPTYLINE HYDROCHLORIDE	4	TP53
ETHOPROPAZINE HYDROCHLORIDE	4	TP53
MECHLORETHAMINE HYDROCHLORIDE	4	TP53
ECONAZOLE NITRATE	4	TP53

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 14.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
FLT3	3,132	Binding:3096, Functional:24, ADMET:8, Toxicity:4
KIT	2,305	Binding:2242, ADMET:32, Functional:22, Toxicity:9
JAK2	2,018	Binding:1911, Functional:51, ADMET:48, Unclassified:4, Toxicity:4
JAK1	1,502	Binding:1428, Functional:49, ADMET:24, Toxicity:1
PDGFRA	1,172	Binding:1160, Functional:8, ADMET:4
FGFR2	966	Binding:940, Functional:22, ADMET:4
TP53	869	Binding:775, ADMET:83, Functional:10, Toxicity:1
KRAS	861	Binding:829, Functional:32
CHEK2	690	Binding:687, Functional:2, ADMET:1
IDH1	488	Binding:475, Functional:12, ADMET:1
TERT	391	Binding:389, Functional:2
DNMT3A	120	Binding:118, ADMET:1, Functional:1
NPM1	113	Binding:108, Functional:5
NSD1	90	Binding:90
IDH2	84	Binding:84
TET2	24	Binding:24
SF3B1	22	Binding:22
RUNX1	20	Binding:17, Functional:3
SF3B2	20	Binding:20
NRAS	18	Binding:18
KLK2	18	Binding:18
CBFB	15	Binding:12, Functional:3
ETV6	11	Binding:11
SRSF2	8	Binding:8
U2AF1	8	Binding:8
TGM6	8	Binding:8
SRP72	7	Binding:7
DDX41	7	Binding:7
GGCX	5	Binding:5
CSF3R	3	Binding:3
BCOR	2	Binding:2
FANCD2	2	Binding:2
GATA2	1	Binding:1
TSC2	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
DNMT3A	2.1.1.37	DNA (cytosine-5-)-methyltransferase
FLT3	2.7.10.1	receptor protein-tyrosine kinase
IDH1	1.1.1.42	isocitrate dehydrogenase (NADP+)
KIT	2.7.10.1	receptor protein-tyrosine kinase
CHEK2	2.7.11.1	non-specific serine/threonine protein kinase
IDH2	1.1.1.42	isocitrate dehydrogenase (NADP+)
NSD1	2.1.1.357, 2.1.1.362	[histone H3]-lysine36 N-dimethyltransferase, [histone H4]-N-methyl-L-lysine20 N-methyltransferase
TGM6	2.3.2.13	protein-glutamine gamma-glutamyltransferase
FGFR2	2.7.10.1	receptor protein-tyrosine kinase
GGCX	4.1.1.90	peptidyl-glutamate 4-carboxylase
JAK1	2.7.10.2	non-specific protein-tyrosine kinase
JAK2	2.7.10.2	non-specific protein-tyrosine kinase
KRAS	3.6.5.2	small monomeric GTPase
PDGFRA	2.7.10.1	receptor protein-tyrosine kinase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
TERT	391
TP53	869
DNMT3A	120
FLT3	3,132
IDH1	488
KIT	2,305
NPM1	113
CHEK2	690
FGFR2	966
JAK1	1,502
JAK2	2,018
KRAS	861
PDGFRA	1,172

Pharmacogenomics

Cohort genes with a PharmGKB record: 52; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Drug repurposing candidates

30 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.

Compound	Max phase	Cohort target (bioactivity)
APOMORPHINE HYDROCHLORIDE	4	CBFB, RUNX1
BERBERINE	4	TERT
DOXORUBICIN	4	TERT
NITROFURANTOIN	4	TP53
DIOSMIN	4	TP53
VERTEPORFIN	4	TP53
CANDESARTAN CILEXETIL	4	TP53
DIENESTROL	4	TP53
CLOTRIMAZOLE	4	TP53
COLCHICINE	4	TP53
NABUMETONE	4	TP53
SALMETEROL XINAFOATE	4	TP53
AMIODARONE HYDROCHLORIDE	4	TP53
FURAZOLIDONE	4	TP53
AMOXAPINE	4	TP53
RALOXIFENE HYDROCHLORIDE	4	TP53
NICARDIPINE HYDROCHLORIDE	4	TP53
SULCONAZOLE NITRATE	4	TP53
PYRITHIONE ZINC	4	TP53
LACTIC ACID	4	TP53
OXYMETHOLONE	4	TP53
CHLOROXINE	4	TP53
PROPIOLACTONE	4	TP53
CLOMIPRAMINE HYDROCHLORIDE	4	TP53
PHENYL AMINOSALICYLATE	4	TP53
THIORIDAZINE HYDROCHLORIDE	4	TP53
AMITRIPTYLINE HYDROCHLORIDE	4	TP53
ETHOPROPAZINE HYDROCHLORIDE	4	TP53
MECHLORETHAMINE HYDROCHLORIDE	4	TP53
ECONAZOLE NITRATE	4	TP53

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	18	RUNX1, TERT, TP53, CBFB, ETV6, FLT3, IDH1, KIT, NPM1, CHEK2 (+8 more)
B	Phased (≥1) drug, not yet approved	7	NRAS, SRSF2, SRP72, U2AF1, SF3B1, SF3B2, DDX41
C	Druggable family + PDB, no drug	5	DNMT3A, CSF3R, SLC7A10, GGCX, KLK2
D	Druggable family + AlphaFold only, no drug	2	TGM6, MFSD11
E	Difficult family or no structure, no drug	22	CEBPA, WT1, GATA2, STAG2, TERC, RTEL1, ASXL1, CHIC2, ANKRD26, FGF13 (+12 more)

Undrugged target profiles

29 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
CEBPA	0	TP53
WT1	0	TP53
GATA2	1	RUNX1
ASXL1	0	TET2
CHIC2	0	ETV6, PDGFRA
CSF3R	3	JAK2
ANKRD26	0	DDX41, ETV6, SRP72
DNMT3A	120	—
STAG2	0	—
TERC	0	—
RTEL1	0	—
FGF13	0	—
SH3GL1	0	—
SLC7A10	0	—
TSC1	0	—
TSC2	1	—
MLLT10	0	—
TGM6	8	—
BCOR	2	—
MFSD11	0	—
TMEM127	0	—
FANCD2	2	—
GGCX	5	—
RTEL1-TNFRSF6B	0	—
RUNX1-AS1	0	—
INSL6	0	—
KLK2	18	—
LPP	0	—
NUP214	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 2,219.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	565
PHASE1/PHASE2	295
PHASE3	168
PHASE2/PHASE3	45
PHASE4	27

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02386800	PHASE4	ACTIVE_NOT_RECRUITING	CINC424A2X01B Rollover Protocol
NCT05144243	PHASE4	ACTIVE_NOT_RECRUITING	Study to Assess Adverse Events and Change in Disease State of Oral Venetoclax in Combination With Subcutaneous (SC) Azacitidine in Newly Diagnosed Adult Participants With Acute Myeloid Leukemia (AML) Who Are Ineligible for Intensive Chemotherapy in China
NCT06370000	PHASE4	RECRUITING	Oral Azacitidine in Transplant-Eligible Patients With Acute Myeloid Leukemia (AML) Suffering From Health-Inequality
NCT06571825	PHASE4	RECRUITING	RIC Allo-HSCT vs. Venetoclax-Based Consolidation in Elderly AML Patients After First CR
NCT07016165	PHASE4	RECRUITING	Ciprofloxacin vs Ceftazidime for Empirical Treatment of High-Risk Neutropenic Fever in Children With Hematologic Malignancies
NCT07044687	PHASE4	RECRUITING	Study to Assess Adverse Events and Change in Disease Activity of Oral Venetoclax in Combination With Subcutaneous (SC) or Intravenous (IV) Azacitidine in Newly Diagnosed Adult Participants With Acute Myeloid Leukemia (AML) Who Are Ineligible for Standard Induction Therapy in India
NCT07486713	PHASE4	RECRUITING	Olutasidenib DDI Study in Patients With IDH1 Mutation Positive Malignancies
NCT07561892	PHASE4	RECRUITING	Study of the Effectiveness and Safety of Daunorubicin /Idarubicin ± Silibinin in Treating Newly Diagnosed AML (Non-M3).
NCT00199147	PHASE4	UNKNOWN	Efficacy of G-CSF-Priming in Elderly AML Patients
NCT00304447	PHASE4	COMPLETED	Study Evaluating the Effect of Corticosteroids on Mylotarg® Infusion-Related Adverse Events in Patients With Leukemia
NCT00464217	PHASE4	COMPLETED	Treatment of the Acute Myeloblastic Leukaemia in Patients Over 65 Years
NCT00487448	PHASE4	COMPLETED	SMD_FLAG-IDA_98: FLAG-IDA in Induction Treatment of High Risk Myelodysplastic Syndromes or Secondary Acute Myeloblastic Leukemia
NCT00488709	PHASE4	COMPLETED	Fludarabine, Cytarabine, Topotecan in Treating Patients With Relapsed or Refractory Acute Myeloid Leukemia
NCT00686543	PHASE4	COMPLETED	Oral Posaconazole in High Risk Patients With Gastrointestinal Dysfunction (Study P05115)
NCT01041040	PHASE4	COMPLETED	LAM07: Study to Analyze the Efficacy of a Risk Adapted Treatment Strategy, Including Gemtuzumab Ozogamicin (GO) During Consolidation, for Patients With Acute Myeloid Leukemia (AML)
NCT01198054	PHASE4	TERMINATED	LENA-LMA-5:Lenalidomide in Acute Myeloid Leukemia (AML)
NCT01200355	PHASE4	COMPLETED	Posaconazole Versus Micafungin for Prophylaxis Against Invasive Fungal Infections During Neutropenia in Patients Undergoing Chemotherapy for Acute Myelogenous Leukemia, Acute Lymphocytic Leukemia or Myelodysplastic Syndrome
NCT01347996	PHASE4	COMPLETED	Maintenance Therapy With Ceplene® (Histamine) and IL-2 on Immune Response and MRD in Acute Myeloid Leukemia
NCT01587430	PHASE4	UNKNOWN	3 Anthracyclines, 2 Types of Consolidation With Different ARA-C Doses and Maintenance in Adult Acute Myeloid Leukemia
NCT01819792	PHASE4	COMPLETED	Respiratory Viral Infections During Acute Myeloid Leukemia (AML)Chemotherapy Related Aplasia
NCT02024308	PHASE4	UNKNOWN	AML1-ETO Acute Myeloid Leukemia With Fludarabine and Cytarabine Chemotherapy
NCT02027064	PHASE4	UNKNOWN	Interferon for the Intervention of Molecular Relapse in t (8; 21) AML After Allo-HSCT
NCT02277847	PHASE4	UNKNOWN	Idarubicin at Different Dosages as Induction Therapy for Newly Diagnosed Acute Myeloid Leukaemia
NCT02926586	PHASE4	COMPLETED	Fludarabine and Cytarabine Versus High-dose Cytarabine for CBF-AML
NCT02933333	PHASE4	UNKNOWN	G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor
NCT03026842	PHASE4	UNKNOWN	Decitabine Versus Conventional Chemotherapy for Maintenance Therapy of Acute Myeloid Leukemia With t(8;21)
NCT03150134	PHASE4	UNKNOWN	Early Tapering of Immunosuppressive Agents to Immunomodulation to Improve Survival of AML Patients
NCT02416388	PHASE2/PHASE3	RECRUITING	Study to Improve OS in 18 to 60 Year-old Patients, Comparing Daunorubicin Versus High Dose Idarubicin Induction Regimens, High Dose Versus Intermediate Dose Cytarabine Consolidation Regimens, and Standard Versus MMF Prophylaxis of GvHD in Allografted Patients in First CR
NCT02521493	PHASE3	ACTIVE_NOT_RECRUITING	Response-Based Chemotherapy in Treating Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndrome in Younger Patients With Down Syndrome
NCT02665065	PHASE3	ACTIVE_NOT_RECRUITING	Study of Iomab-B vs. Conventional Care in Older Subjects With Active, Relapsed or Refractory Acute Myeloid Leukemia
NCT03021330	PHASE3	ACTIVE_NOT_RECRUITING	Efficacy of Intermediate-Dose Cytarabine Induction Regimen in Adult AML
NCT03480360	PHASE3	ACTIVE_NOT_RECRUITING	Haploidentical Allogeneic Peripheral Blood Transplantation: Examining Checkpoint Immune Regulators’ Expression
NCT03507842	PHASE3	ENROLLING_BY_INVITATION	A Prospective Randomized Comparison of HDAC Vs AD in the Induction Chemothrapy for AML.
NCT03701308	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Daunorubicin and Cytarabine With or Without Uproleselan in Treating Older Adult Patients With Acute Myeloid Leukemia Receiving Intensive Induction Chemotherapy
NCT03839771	PHASE3	ACTIVE_NOT_RECRUITING	A Study of Ivosidenib or Enasidenib in Combination With Induction Therapy and Consolidation Therapy, Followed by Maintenance Therapy in Patients With Newly Diagnosed Acute Myeloid Leukemia or Myedysplastic Syndrome EB2, With an IDH1 or IDH2 Mutation, Respectively, Eligible for Intensive Chemotherapy
NCT03844048	PHASE3	ACTIVE_NOT_RECRUITING	An Extension Study of Venetoclax for Subjects Who Have Completed a Prior Venetoclax Clinical Trial
NCT03897127	PHASE3	ACTIVE_NOT_RECRUITING	Study of Standard Intensive Chemotherapy Versus Intensive Chemotherapy With CPX-351 in Adult Patients With Newly Diagnosed AML and Intermediate- or Adverse Genetics
NCT04027309	PHASE3	ACTIVE_NOT_RECRUITING	A Study of Gilteritinib Versus Midostaurin in Combination With Induction and Consolidation Therapy Followed by One-year Maintenance in Patients With Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndromes With Excess Blasts-2 With FLT3 Mutations Eligible for Intensive Chemotherapy
NCT04168502	PHASE3	RECRUITING	Gemtuzumab Chemotherapy MRD Levels; Adult Untreated, de Novo, Fav Interm Risk AML
NCT04173533	PHASE3	ACTIVE_NOT_RECRUITING	Randomised Study of Oral Azacitidine vs Placebo Maintenance in AML or MDS Patients After Allo-SCT

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
FLUDARABINE PHOSPHATE	4	123
DAUNORUBICIN	4	82
AZACITIDINE	4	38
VENETOCLAX	4	35
CLOFARABINE	4	32
GEMTUZUMAB OZOGAMICIN	4	28
GILTERITINIB	4	27
MITOXANTRONE	4	27
DECITABINE	4	26
IDARUBICIN	4	26
CLADRIBINE	4	21
MIDOSTAURIN	4	16
PLERIXAFOR	4	15
TRETINOIN	4	13
BUSULFAN	4	12
QUIZARTINIB	4	12
SORAFENIB	4	11
CEDAZURIDINE	4	8
ENASIDENIB	4	8
IVOSIDENIB	4	8
SELINEXOR	4	8
CYTARABINE	4	7
OMACETAXINE MEPESUCCINATE	4	7
ELTROMBOPAG	4	6
MELPHALAN	4	6
PANOBINOSTAT	4	6
THIOTEPA	4	6
TREOSULFAN	4	6
ARSENIC TRIOXIDE	4	5
ASPARAGINASE	4	5

Precision-medicine subtype map (CIViC)

Drug × molecular subtype: 170 predictive associations from 199 curated evidence items; also 130 prognostic, 35 oncogenic, 26 diagnostic, 16 predisposing.

Molecular subtype	Therapy	Effect	Level	CIViC
FLT3 ITD	Gilteritinib	Sensitivity/Response	CIViC A	EID12621 +2
IDH1 R132 AND IDH1 R132L	Ivosidenib	Sensitivity/Response	CIViC A	EID12899 +1
IDH2 Mutation	Enasidenib	Sensitivity/Response	CIViC A	EID5069 +1
BCR::ABL1 Fusion	Imatinib	Sensitivity/Response	CIViC A	EID259
FLT3 D835 OR FLT3 I836	Gilteritinib	Sensitivity/Response	CIViC A	EID12622
FLT3 ITD AND FLT3 D835 AND FLT3 I836	Gilteritinib	Sensitivity/Response	CIViC A	EID11260
FLT3 ITD AND FLT3 D835 AND FLT3 I836	Chemotherapy + Midostaurin	Sensitivity/Response	CIViC A	EID11261
FLT3 ITD OR FLT3 D835 OR FLT3 I836	Gilteritinib	Sensitivity/Response	CIViC A	EID7728
FLT3 Mutation	Midostaurin	Sensitivity/Response	CIViC A	EID5261
IDH1 Mutation	Ivosidenib + Azacitidine	Sensitivity/Response	CIViC A	EID10313
IDH1 Mutation	Ivosidenib	Sensitivity/Response	CIViC A	EID7278
FLT3 ITD	Sorafenib	Sensitivity/Response	CIViC B	EID1040 +2
FLT3 F691L	Pexidartinib	Sensitivity/Response	CIViC B	EID8674 +1
FLT3 ITD	Midostaurin	Sensitivity/Response	CIViC B	EID7061 +1
FLT3 ITD	Sorafenib + Hematopoietic Cell Transplantation	Sensitivity/Response	CIViC B	EID9069 +1
FLT3 Mutation	Nilotinib	Sensitivity/Response	CIViC B	EID5575 +1
NPM1 EXON 11 MUTATION	Tretinoin	Sensitivity/Response	CIViC B	EID137 +1
CEBPA Mutation	Tretinoin	Sensitivity/Response	CIViC B	EID122
DNMT3A Mutation	Decitabine	Sensitivity/Response	CIViC B	EID1587
DNMT3A R882	Idarubicin	Sensitivity/Response	CIViC B	EID18
FLT3 D835 & I836	Lestaurtinib + Quizartinib + Sorafenib + FLT3/ABL/Aurora Kinase Inhibitor KW-2449	Sensitivity/Response	CIViC B	EID8925
FLT3 ITD	Lestaurtinib	Sensitivity/Response	CIViC B	EID297
FLT3 ITD	Pacritinib	Sensitivity/Response	CIViC B	EID9217
FLT3 ITD & TKD MUTATIONS	Midostaurin	Sensitivity/Response	CIViC B	EID8516
FLT3 Mutation	Gilteritinib	Sensitivity/Response	CIViC B	EID7283
FLT3 TKD MUTATION	Midostaurin	Sensitivity/Response	CIViC B	EID1295
IDH1 R132C	Ivosidenib	Sensitivity/Response	CIViC B	EID2331
IDH1 R132S	Ivosidenib	Sensitivity/Response	CIViC B	EID2340
KIT RS3733542	Selumetinib	Sensitivity/Response	CIViC B	EID1136
NPM1 EXON 11 MUTATION	Daunorubicin	Sensitivity/Response	CIViC B	EID147

+140 more predictive associations (showing top 30 by evidence level).

Cohort genes: RUNX1, CEBPA, TERT, TP53, WT1, CBFB, DNMT3A, ETV6, FLT3, GATA2, IDH1, KIT, NPM1, NRAS, SRSF2, STAG2, U2AF1, CHEK2, ASXL1, CSF3R, TET2, FGF13, IDH2, SF3B1, TSC1, TSC2, NSD1, DDX41, BCOR, FGFR2, JAK1, JAK2, KRAS, NUP214, PDGFRA, SRP72, TERC, RTEL1, CHIC2, ANKRD26, SF3B2, SH3GL1, SLC7A10, MLLT10, TGM6, MFSD11, TMEM127, FANCD2, GGCX, RUNX1-AS1, INSL6, KLK2, LPP
Drugs: Fludarabine Phosphate, Daunorubicin, Azacitidine, Venetoclax, Clofarabine, Gemtuzumab Ozogamicin, Gilteritinib, Mitoxantrone, Decitabine, Idarubicin, Cladribine, Midostaurin, Plerixafor, Tretinoin, Busulfan, Quizartinib, Sorafenib, Cedazuridine, Enasidenib, Ivosidenib, Selinexor, Cytarabine, Omacetaxine Mepesuccinate, Eltrombopag, Melphalan, Panobinostat, Thiotepa, Treosulfan, Arsenic Trioxide, Asparaginase, Imatinib, Pexidartinib, Nilotinib, Lestaurtinib, Pacritinib, Selumetinib