Myeloid leukemia

Summary

Myeloid leukemia (MONDO:0004643) is a cancer with 8 GWAS associations across 5 studies and 242 clinical trials. Top therapeutic interventions include enasidenib, cedazuridine, and cladribine. A subtype of leukemia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• GWAS associations: 8
• Clinical trials: 242

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	myeloid leukemia
Mondo ID	MONDO:0004643
MeSH	D007951
DOID	DOID:8692
ICD-10-CM	C92
NCIT	C3172
SNOMED CT	188732008
UMLS	C0023470
MedGen	7320
GARD	0008226
Is cancer (heuristic)	yes

Also known as: leukaemia granulocytic · leukaemia myeloid · leukemia granulocytic · leukemia myelogenous · leukemia myeloid · leukemia, granulocytic, malignant · myelocytic leukaemia · myelocytic leukemia · myelogenous leukaemia · myelogenous leukemia · myeloid leukemia · non-lymphoblastic leukaemia · non-lymphoblastic leukemia · non-lymphocytic leukaemia · non-lymphocytic leukemia

Data availability: 8 GWAS associations (5 studies).

Disease family

This is a subtype of leukemia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

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

Related subtypes (11): chronic leukemia, chronic erythremia, testicular leukemia, central nervous system leukemia, aleukemic leukemia, splenic manifestation of leukemia, childhood leukemia, monocytic leukemia, lymphoid leukemia, acute leukemia, mast cell leukemia

Subtypes (4): atypical chronic myeloid leukemia, BCR-ABL1 negative, chronic myeloid leukemia, acute myeloid leukemia, Philadelphia-positive myelogenous leukemia

Genetics & variants

GWAS landscape

8 GWAS associations across 5 studies. Top hits map to 3 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs77375493	8e-39	JAK2	G	2.58
rs147001633	4e-16	DNMT3A	C	2.58
rs557766764	4e-14	TMEM229A - SSU72L6	C	3.42
rs538560866	6e-13	PJA2 - KRT18P42	T	4.69
rs546895386	5e-12	LINC02522 - GCNT2	A	3.01
rs543707332	4e-11	LINC01235 - LINC00583	G	3.09
rs74857201	2e-07	NEK7	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475614	Verma A	2024	1,387	449,599	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435651	Zhou W	2018	467	404,466	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90651923	Liu TY	2025	377	235,192	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90479832	Verma A	2024	230	121,611	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481545	Verma A	2024	230	121,611	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	2
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	5

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	6
unknown	1

Functional consequences

Consequence	Count
intron_variant	4
missense_variant	2
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs77375493	9	5073770	G>A,C,T	0	missense_variant	JAK2	8e-39	Tier 1: coding
rs147001633	2	25234373	C>A,G,T	0	missense_variant	DNMT3A	4e-16	Tier 1: coding
rs557766764	7	124340733	C>T	0	intron_variant	TMEM229A - SSU72L6	4e-14	Tier 4: intronic/intergenic
rs538560866	5	109517925	T>C	0.001	intron_variant	PJA2 - KRT18P42	6e-13	Tier 4: intronic/intergenic
rs546895386	6	10488465	A>G	0	intergenic_variant	LINC02522 - GCNT2	5e-12	Tier 4: intronic/intergenic
rs543707332	9	13816439	G>A,C	0	intron_variant	LINC01235 - LINC00583	4e-11	Tier 4: intronic/intergenic
rs74857201	1	198239965	A>G		intron_variant	NEK7	2e-07	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

2 approved, 7 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Decitabine	Approved (phase 4)
Gemtuzumab Ozogamicin	Approved (phase 4)
Azacitidine	Phase 3 (in late-stage trials)
Cytarabine	Phase 3 (in late-stage trials)
Daunorubicin	Phase 3 (in late-stage trials)
Gilteritinib	Phase 3 (in late-stage trials)
Imatinib	Phase 3 (in late-stage trials)
Nilotinib	Phase 3 (in late-stage trials)
Venetoclax	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Cladribine, Enasidenib, Filgrastim, Olaparib, Pegfilgrastim.

Clinical trials & evidence

Clinical trials

Clinical trials: 242.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE1	101
PHASE2	56
PHASE1/PHASE2	46
Not specified	23
PHASE3	7
EARLY_PHASE1	5
PHASE2/PHASE3	4

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05515029	PHASE3	ACTIVE_NOT_RECRUITING	Preventing of GVHD With Post-transplantation Cyclophosphamide, Abatacept, Vedolizumab and Calcineurin Inhibitor at Patients With Hemoblastosis
NCT06418776	PHASE3	RECRUITING	IMPACT-AML: Randomized Pragmatic Clinical Trial for Relapsed or Refractory AML
NCT06756152	PHASE2/PHASE3	RECRUITING	Preventing of GVHD with Post-transplantation Cyclophosphamide, Abatacept, Vedolizumab and Ruxolitinib At Children and Young Adults with Hemoblastosis
NCT07022678	PHASE3	NOT_YET_RECRUITING	Xylitol Dental Wipes for the Reduction of Bloodstream Infection Risk in Children With Acute Myeloid Leukemia
NCT07157514	PHASE2/PHASE3	NOT_YET_RECRUITING	Radioimmunotherapy Conditioning With 131I- Apamistamab for Allogeneic Transplant in Relapse/Refractory AML
NCT00111345	PHASE2/PHASE3	UNKNOWN	Therapy-Optimization Trial for the Treatment of Acute Myeloid Leukemias (AML) in Children and Adolescents
NCT00422890	PHASE3	COMPLETED	Treatment of Imminent Haematological Relapse in Patients With AML and MDS Following Allogeneic Stem Cell Transplantation With 5-azacitidine (Vidaza®)
NCT00519090	PHASE3	TERMINATED	Nilotinib vs Imatinib in Adult Patients With Philadelphia (Ph+) Chronic Myelogenous Leukemia in Chronic Phase (CML-CP)
NCT00521664	PHASE3	COMPLETED	A Trial Comparing a Prophylactic With a Therapeutic Platelet Transfusion Strategy in Two Groups
NCT00967343	PHASE2/PHASE3	TERMINATED	Efficacy and Safety of a Donor Lymphocyte Preparation Depleted of Functional Host Alloreactive T-cells (ATIR) in Patients Undergoing a Peripheral Blood Stem Cell Transplant From a Related, Haploidentical Donor
NCT04000698	PHASE3	UNKNOWN	Personalized Targeted Preparative Regimen Before T-depleted Allogeneic HSCT in Children With Chemoresistent Acute Leukemias
NCT02115295	PHASE2	RECRUITING	Cladribine, Idarubicin, Cytarabine, and Venetoclax in Treating Patients With Acute Myeloid Leukemia, High-Risk Myelodysplastic Syndrome, or Blastic Phase Chronic Myeloid Leukemia
NCT02392572	PHASE1/PHASE2	RECRUITING	ONC201 in Treating Patients With Relapsed or Refractory Acute Leukemia or High-Risk Myelodysplastic Syndrome
NCT02727803	PHASE2	RECRUITING	Personalized NK Cell Therapy in CBT
NCT02861417	PHASE2	ACTIVE_NOT_RECRUITING	Busulfan, Fludarabine Phosphate, and Post-Transplant Cyclophosphamide in Treating Patients With Blood Cancer Undergoing Donor Stem Cell Transplant
NCT03128034	PHASE1/PHASE2	RECRUITING	211^At-BC8-B10 Before Donor Stem Cell Transplant in Treating Patients With High-Risk Acute Myeloid Leukemia, Acute Lymphoblastic Leukemia, Myelodysplastic Syndrome, or Mixed-Phenotype Acute Leukemia
NCT03214562	PHASE1/PHASE2	RECRUITING	Venetoclax With Combination Chemotherapy in Treating Patients With Newly Diagnosed or Relapsed or Refractory Acute Myeloid Leukemia
NCT03247088	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Sorafenib, Busulfan and Fludarabine in Treating Patients With Recurrent or Refractory Acute Myeloid Leukemia Undergoing Donor Stem Cell Transplant
NCT03289910	PHASE2	ACTIVE_NOT_RECRUITING	Topotecan Hydrochloride and Carboplatin With or Without Veliparib in Treating Advanced Myeloproliferative Disorders and Acute Myeloid Leukemia or Chronic Myelomonocytic Leukemia
NCT03471260	PHASE1/PHASE2	RECRUITING	Ivosidenib and Venetoclax With or Without Azacitidine in Treating Patients With IDH1 Mutated Hematologic Malignancies
NCT03629171	PHASE2	RECRUITING	Liposome-encapsulated Daunorubicin-Cytarabine and Venetoclax in Treating Participants With Relapsed, Refractory or Untreated Acute Myeloid Leukemia
NCT03661307	PHASE1/PHASE2	RECRUITING	Quizartinib, Decitabine, and Venetoclax in Treating Participants With Untreated or Relapsed Acute Myeloid Leukemia or High Risk Myelodysplastic Syndrome
NCT03670966	PHASE1/PHASE2	RECRUITING	211At-BC8-B10 Followed by Donor Stem Cell Transplant in Treating Patients With Relapsed or Refractory High-Risk Acute Leukemia or Myelodysplastic Syndrome
NCT03672539	PHASE2	ACTIVE_NOT_RECRUITING	Liposome-encapsulated Daunorubicin-Cytarabine and Gemtuzumab Ozogamicin in Treating Patients With Relapsed or Refractory Acute Myeloid Leukemia (AML) or High Risk Myelodysplastic Syndrome
NCT03683433	PHASE2	RECRUITING	Enasidenib and Azacitidine in Treating Patients With Recurrent or Refractory Acute Myeloid Leukemia and IDH2 Gene Mutation
NCT03825796	PHASE2	ACTIVE_NOT_RECRUITING	CPX-351 Plus Enasidenib for Relapsed AML
NCT03953898	PHASE2	ACTIVE_NOT_RECRUITING	Using the Anticancer Drug Olaparib to Treat Relapsed/Refractory Acute Myeloid Leukemia or Myelodysplastic Syndrome With an Isocitrate Dehydrogenase (IDH) Mutation
NCT04047641	PHASE1/PHASE2	RECRUITING	Cladribine, Idarubicin, Cytarabine, and Quizartinib in Treating Patients With Newly Diagnosed, Relapsed, or Refractory Acute Myeloid Leukemia or High-Risk Myelodysplastic Syndrome
NCT04049539	PHASE1/PHASE2	RECRUITING	Vyxeos for Re-induction Treatment of Acute Myeloid Leukemia Patients With Persistent Disease After Induction
NCT04050280	PHASE2	RECRUITING	CLAG-GO for Patients With Persistent, Relapsed or Refractory AML
NCT04128748	PHASE1/PHASE2	RECRUITING	Liposomal Cytarabine and Daunorubicin (CPX-351) and Quizartinib for the Treatment of Acute Myeloid Leukemia and High Risk Myelodysplastic Syndrome
NCT04140487	PHASE1/PHASE2	RECRUITING	Azacitidine, Venetoclax, and Gilteritinib in Treating Patients With Recurrent/Refractory FLT3-Mutated Acute Myeloid Leukemia, Chronic Myelomonocytic Leukemia, or High-Risk Myelodysplastic Syndrome/Myeloproliferative Neoplasm
NCT04188405	PHASE2	ACTIVE_NOT_RECRUITING	Decitabine, Venetoclax, and Ponatinib for the Treatment of Philadelphia Chromosome-Positive Acute Myeloid Leukemia or Myeloid Blast Phase or Accelerated Phase Chronic Myelogenous Leukemia
NCT04203316	PHASE2	ACTIVE_NOT_RECRUITING	Enasidenib for the Treatment of Relapsed or Refractory Acute Myeloid Leukemia Patients With an IDH2 Mutation
NCT04493164	PHASE2	RECRUITING	CPX-351 and Ivosidenib for the Treatment of IDH1 Mutated Acute Myeloid Leukemia or High-Risk Myelodysplastic Syndrome
NCT04668885	PHASE2	ACTIVE_NOT_RECRUITING	CPX-351 as a Novel Approach for the Treatment of Older Patients With AML and MDS
NCT04746235	PHASE2	ACTIVE_NOT_RECRUITING	Venetoclax and ASTX727 for the Treatment of Relapsed, Refractory, or Newly Diagnosed Acute Myeloid Leukemia
NCT04774393	PHASE1/PHASE2	RECRUITING	Decitabine/Cedazuridine and Venetoclax in Combination With Ivosidenib or Enasidenib for the Treatment of Relapsed or Refractory Acute Myeloid Leukemia
NCT04797767	PHASE1/PHASE2	RECRUITING	Venetoclax and CLAG-M for the Treatment of Acute Myeloid Leukemia and High-Grade Myeloid Neoplasms
NCT04905810	PHASE2	RECRUITING	Azacitidine or Decitabine With Venetoclax for Acute Myeloid Leukemia With Prior Hypomethylating Agent Failure

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ENASIDENIB	4	13
CEDAZURIDINE	4	9
CLADRIBINE	4	9
GILTERITINIB	4	8
IDARUBICIN	4	7
QUIZARTINIB	4	6
IVOSIDENIB	4	5
GEMTUZUMAB OZOGAMICIN	4	4
PONATINIB	4	4
VENETOCLAX	4	3
AVELUMAB	4	2
BELINOSTAT	4	2
BOSUTINIB MONOHYDRATE	4	2
ENTRECTINIB	4	2
ETOPOSIDE PHOSPHATE	4	2
GLASDEGIB MALEATE	4	2
IDELALISIB	4	2
MITOXANTRONE HYDROCHLORIDE	4	2
REVUMENIB	4	2
RUXOLITINIB	4	2
ABATACEPT	4	1
AMPHOTERICIN B	4	1
ASCIMINIB	4	1
BOSUTINIB	4	1
CLOFARABINE	4	1
COBIMETINIB	4	1
COPANLISIB	4	1
DACOMITINIB	4	1
DACOMITINIB ANHYDROUS	4	1
DARATUMUMAB	4	1