RUNX1

Summary

RUNX1 (RUNX family transcription factor 1, HGNC:10471) is a protein-coding gene on chromosome 21q22.12, encoding Runt-related transcription factor 1 (Q01196). Forms the heterodimeric complex core-binding factor (CBF) with CBFB. In precision oncology, RUNX1 Mutation is associated with resistance to Cytarabine in Acute Myeloid Leukemia (CIViC Level B). It is haploinsufficient (ClinGen: sufficient evidence).

Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 861 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hereditary thrombocytopenia and hematologic cancer predisposition syndrome (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 122
• Clinical variants (ClinVar): 1,866 total — 137 pathogenic, 113 likely-pathogenic
• Phenotypes (HPO): 68
• Druggable target: yes — 2 molecules with ChEMBL bioactivity
• Precision-oncology evidence (CIViC): 1 curated variant–drug association
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 5 cancer types
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Transcription factor: yes — 216 downstream targets (CollecTRI)
• MANE Select transcript: NM_001754

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10471
Approved symbol	RUNX1
Name	RUNX family transcription factor 1
Location	21q22.12
Locus type	gene with protein product
Status	Approved
Aliases	PEBP2A2, AMLCR1
Ensembl gene	ENSG00000159216
Ensembl biotype	protein_coding
OMIM	151385
Entrez	861

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 10 protein_coding, 6 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000300305, ENST00000344691, ENST00000358356, ENST00000399237, ENST00000399240, ENST00000416754, ENST00000455571, ENST00000460207, ENST00000467577, ENST00000467692, ENST00000468726, ENST00000469087, ENST00000475045, ENST00000479325, ENST00000482318, ENST00000494829, ENST00000675419, ENST00000882527

RefSeq mRNA: 3 — MANE Select: NM_001754 NM_001001890, NM_001122607, NM_001754

CCDS: CCDS13639, CCDS42922, CCDS46646

Canonical transcript exons

ENST00000675419 — 9 exons

Exon	Start	End
ENSE00002287560	34787801	34792610
ENSE00002454902	34886843	34887096
ENSE00003512550	34859474	34859578
ENSE00003519701	34880557	34880713
ENSE00003559527	34799301	34799462
ENSE00003704290	35048842	35048958
ENSE00003788902	34834410	34834601
ENSE00003790369	34892925	34892963
ENSE00003903615	35049168	35049302

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 95.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 64.4304 / max 1342.9920, expressed in 1773 samples.

FANTOM5 promoters (27 alternative TSS)

Promoter ID	TPM avg	Samples expressed
190313	37.5934	1748
190338	12.1701	976
190307	2.0085	533
190317	1.9774	1024
190305	1.9648	998
190309	1.2156	559
190312	0.8769	380
190330	0.7871	252
190333	0.7473	219
190310	0.7206	364

Top tissues by expression

284 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
olfactory segment of nasal mucosa	UBERON:0005386	95.31	gold quality
epithelium of bronchus	UBERON:0002031	95.08	gold quality
mucosa of paranasal sinus	UBERON:0005030	94.89	gold quality
bronchial epithelial cell	CL:0002328	94.83	gold quality
nasal cavity epithelium	UBERON:0005384	94.66	gold quality
bronchus	UBERON:0002185	94.48	gold quality
visceral pleura	UBERON:0002401	94.31	gold quality
tendon of biceps brachii	UBERON:0008188	93.96	gold quality
trabecular bone tissue	UBERON:0002483	93.88	gold quality
epithelium of nasopharynx	UBERON:0001951	93.82	gold quality
nasopharynx	UBERON:0001728	93.81	gold quality
nasal cavity mucosa	UBERON:0001826	93.05	gold quality
minor salivary gland	UBERON:0001830	92.78	gold quality
bone marrow cell	CL:0002092	92.38	gold quality
cervix squamous epithelium	UBERON:0006922	91.67	gold quality
cartilage tissue	UBERON:0002418	91.65	gold quality
epithelium of mammary gland	UBERON:0003244	91.49	gold quality
sural nerve	UBERON:0015488	91.33	gold quality
mammary gland	UBERON:0001911	90.82	gold quality
mammary duct	UBERON:0001765	90.75	gold quality
thoracic mammary gland	UBERON:0005200	90.75	gold quality
bone element	UBERON:0001474	90.69	gold quality
mouth mucosa	UBERON:0003729	90.63	gold quality
pleura	UBERON:0000977	90.45	gold quality
mucosa of urinary bladder	UBERON:0001259	90.26	gold quality
monocyte	CL:0000576	89.99	gold quality
saliva-secreting gland	UBERON:0001044	89.99	gold quality
bone marrow	UBERON:0002371	89.81	gold quality
periodontal ligament	UBERON:0008266	89.79	gold quality
blood	UBERON:0000178	89.56	gold quality

Single-cell (SCXA)

Detected in 13 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	1955.04
E-GEOD-180759	yes	1744.93
E-MTAB-8271	yes	151.94
E-HCAD-35	yes	42.09
E-HCAD-25	yes	17.35
E-ANND-3	yes	13.06
E-GEOD-83139	yes	7.00
E-ENAD-27	yes	6.61
E-MTAB-9801	yes	5.33
E-CURD-119	yes	5.29
E-MTAB-6142	no	55.66
E-MTAB-6678	no	3.56
E-CURD-112	no	2.87

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

216 targets.

Target	Regulation
ABCB1
ABL1
ABO
ADA
ADAM2
ALOX12	Unknown
ANGPT1
ANKRD26	Repression
ANXA1	Repression
AQP1
ARHGAP10	Unknown
ART1	Activation
ATP7A
BAALC	Activation
BCL2
BCL2L1
BCR
BGLAP	Unknown
BIRC5	Unknown
BLK	Activation
BPI	Unknown
C16orf54	Activation
CALCA
CBFA2T2
CBFA2T3
CBX2	Repression
CCL3	Activation
CCND2	Unknown
CCND3
CD160	Unknown

JASPAR motifs

Motif	Name	Family
MA0002.1	RUNX1	Runt-related factors

JASPAR matrix evidence (PMIDs): PMID:8413232

Upstream regulators (CollecTRI, top): ARID5B, CBFB, CSF1R, CTCF, DNMT1, ERG, ETS1, ETS2, FLI1, FOXO3, GATA1, HBP1, HLF, IKZF1, KAT6A, L3MBTL1, MYB, MYF5, MYOD1, PITX1, RAD21, RUNX1, RUNX2, RUNX3, SALL4, SMAD1, SPI1, TAL1, TLE3, TOP2B, TP53, TP63, TRPS1

miRNA regulators (miRDB)

195 targeting RUNX1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-371A-3P	99.99	66.77	91
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Runx1/AML1, a chromosome 21q22 hematopoietic regulator, is frequently translocated in leukemia (PMID:11792409)
• mutant RUNX1 proteins (missense and nonsense) may also inhibit wild-type RUNX1, possibly creating a higher propensity to develop leukemia. (PMID:11830488)
• Mutations have been found in exons 3, 4, and 5 and in intron 4 of the AML1 gene in acute myeloid leukemia of FAB types M0 and M7. (PMID:11921279)
• aml 1 gene chromosome translocation involves leukemia etiology (PMID:11979742)
• Potential involvement of the AML1-MTG8 fusion protein in the granulocytic maturation characteristic of the t(8;21) acute myelogenous leukemia cell (PMID:11986950)
• REVIEW: In hematologic malignancies, point mutations of the AML1 gene present in the region encoding the Runt domain cause loss of the DNA-binding ability. (PMID:12002768)
• A new translocation, t(4;21)(q21;q22) disrupting the AML1 gene was found in a case of childhood T-ALL. (PMID:12072207)
• AML1 activates transcription genes critical for the G1 to S transition via its C-terminal transactivation domain. Inactivation of AML in acute leukemia is expected to slow proliferation unless additional alterations co-exist which accelerate G1. (PMID:12082641)
• the chromosomal translocation leads to formation of tel/aml1 fusion oncogene and is most common genetic aberration in childhood B-cell precursor ALL. (PMID:12091359)
• AML1 amplification in a case of childhood acute lymphoblastic leukemia (PMID:12393286)
• data demonstrate the capacity of AML1-ETO to promote the self-renewal of human hematopoietic cells and therefore support a causal role for t(8;21) translocations in leukemogenesis (PMID:12393523)
• AML1 point mutations are related to low-dose radiation or alkylating agents and play a role distinct from that of leukemogenic chimeras; DNA binding ability and down-regulation of trans-activation of mutations (PMID:12393679)
• review: genetics of CBFB and RUNX1 and roles in hematopoiesis and leukemogenesis, with emphasis on human and knockout mice studies (PMID:12495904)
• 30% of acute myeloid leukemia cases express a Core Binding Factor oncoprotein or harbor point mutations in one or both AML1 (RUNX1) genes. (PMID:12496475)
• Breakpoints in TEL intron 5 and AML1 intron 1 leading to TEL-AML1 fusion is shown to be the initiating step, preceding differentiation to pre-B cells, in childhood acute lymphoblastic leukemia. (PMID:12526921)
• AML-1 plays a role in driving Mona protein expression in T and myelomonocytic cells. (PMID:12554803)
• identification as tumor suppressor gene (PMID:12555067)
• AML1 rearrangements leading to the AML1-ETO fusion gene are frequently the result of small hidden interstitial insertions. (PMID:12557226)
• role in regulation of MIP-1 alpha expression in multiple myeloma (PMID:12560229)
• how RUNX1 might program divergence from the erythroid pathway to the megakaryocytic lineage commitment through functional and physical interactions with GATA-1 (PMID:12576332)
• role in leukemogenesis (PMID:12604126)
• Review. AML1 plays a vital role in the regulation of expression of many genes involved in hematopoietic cell development, and the impairment of AML1 function disregulates the pathways leading to cellular proliferation and differentiation. (PMID:12643014)
• Double trisomy 8 and 21, one with rearrangement of the RUNX1 gene, in acute myelocytic leukemias (PMID:12699896)
• Oncogene AML-1 protein is detected frequently in acute myelogenous leukemia and it is a favorable prognostic factor in disease survival. (PMID:12760263)
• In t(8;21) leukaemic cells expressing the aberrant fusion protein AML1-ETO, we demonstrate that this protein is part of a transcription factor complex binding to extended sequences of the c-FMS intronic regulatory region rather than the promoter. (PMID:12773394)
• In 241 patients with pediatric hematologic malignancies, AML1 mutations have been detected in seven patients (2.9%). (PMID:12874780)
• Strong overexpression of NCAM(CD56) and RUNX1(AML1) is a constant and characteristic feature of cardiomyocytes within or adjacent to scars in ICM. (PMID:12937148)
• Amplification of this gene in childhood acute lymphoblsatic leukemia is associatd with poor outcome. (PMID:14523475)
• heterozygous mutation (G>T) in intron 3 at the splice acceptor site for exon 4; this mutation is associated with not only thrombocytopenia, but also impaired platelet protein phosphorylation and GPIIb-IIIa activation (PMID:14525764)
• RUNX1 binds to protein kinase C beta and is linked to a myeloid apoptotic pathway (PMID:14561740)
• reduced AML1 activities predispose cells to the acquisition of the activating FLT3 mutation as a secondary event leading to full transformation in acute myeloblastic leukemia M0. (PMID:14562119)
• AML1 point mutation is one of the major driving forces of myelodysplastic syndrome and acute myeloid leukemia, and these mutations may represent a distinct clinicopathologic-genetic entity. (PMID:14615365)
• In conclusion, we provide evidence for AML-1, PU.1, and Sp3 cooperatively and directly mediating BPI-expression during myeloid differentiation. (PMID:14623259)
• AML1/RUNX1 increases during G1 to S cell cycle progression independent of cytokine-dependent phosphorylation and induces cyclin D3 gene expression (PMID:14747476)
• acetylation of AML1 through p300 is a critical manner of posttranslational modification and identify a novel mechanism for regulating the function of AML1 (PMID:14752096)
• NERF/ELF-2 physically interacts with AML1 and mediates opposing effects on AML1-mediated transcription of the B cell-specific blk gene (PMID:14970218)
• RUNX1 and RUNX2 regulate TIMP1 gene expression (PMID:15051730)
• REVIEW: Familial mutations predispose to acute myeloid leukemia (PMID:15061191)
• chromosome 21 tandem repetition resulted in amplification of the AML1 gene in one case but in another case the AML1 gene was not included in the tandem repeat, showing that apparently similar cytogenetic aberrations may be different at the molecular level (PMID:15104277)
• we found an incidence of 8.6% of TEL/AML1 translocation in ALL patients (12% of B-lineage ALL) (PMID:15104290)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	runx1	ENSDARG00000087646
mus_musculus	Runx1	ENSMUSG00000022952
rattus_norvegicus	Runx1	ENSRNOG00000001704
drosophila_melanogaster	lz	FBGN0002576

Paralogs (2): RUNX3 (ENSG00000020633), RUNX2 (ENSG00000124813)

Protein

Protein identifiers

Runt-related transcription factor 1 — Q01196 (reviewed: Q01196)

Alternative names: Acute myeloid leukemia 1 protein, Core-binding factor subunit alpha-2, Oncogene AML-1, Polyomavirus enhancer-binding protein 2 alpha B subunit, SL3-3 enhancer factor 1 alpha B subunit, SL3/AKV core-binding factor alpha B subunit

All UniProt accessions (7): A0A0C4DG58, A8MZI9, C9JWM1, Q01196, H9KVB1, V9GYT3, V9GYT5

UniProt curated annotations — full annotation on UniProt →

Function. Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5’-TGTGGT-3’, or very rarely, 5’-TGCGGT-3’, within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters. Essential for the development of normal hematopoiesis. Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the BLK promoter. Inhibits KAT6B-dependent transcriptional activation. Involved in lineage commitment of immature T cell precursors. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation. CBF complexes binding to the transcriptional silencer is essential for recruitment of nuclear protein complexes that catalyze epigenetic modifications to establish epigenetic ZBTB7B silencing. Controls the anergy and suppressive function of regulatory T-cells (Treg) by associating with FOXP3. Activates the expression of IL2 and IFNG and down-regulates the expression of TNFRSF18, IL2RA and CTLA4, in conventional T-cells. Positively regulates the expression of RORC in T-helper 17 cells. Isoform AML-1G shows higher binding activities for target genes and binds TCR-beta-E2 and RAG-1 target site with threefold higher affinity than other isoforms. It is less effective in the context of neutrophil terminal differentiation. Isoform AML-1L interferes with the transactivation activity of RUNX1.

Subunit / interactions. Heterodimer with CBFB. RUNX1 binds DNA as a monomer and through the Runt domain. DNA-binding is increased by heterodimerization. Isoform AML-1L can neither bind DNA nor heterodimerize. Interacts with TLE1 and ALYREF/THOC4. Interacts with ELF1, ELF2 and SPI1. Interacts via its Runt domain with the ELF4 N-terminal region. Interaction with ELF2 isoform 2 (NERF-1a) may act to repress RUNX1-mediated transactivation. Interacts with KAT6A and KAT6B. Interacts with SUV39H1, leading to abrogation of transactivating and DNA-binding properties of RUNX1. Interacts with YAP1. Interacts with HIPK2. Interaction with CDK6 prevents myeloid differentiation, reducing its transcription transactivation activity. Found in a complex with PRMT5, RUNX1 and CBFB. Interacts with FOXP3. Interacts with TBX21. Interacts with DPF2.

Subcellular location. Nucleus.

Tissue specificity. Expressed in all tissues examined except brain and heart. Highest levels in thymus, bone marrow and peripheral blood.

Post-translational modifications. Phosphorylated in its C-terminus upon IL-6 treatment. Phosphorylation enhances interaction with KAT6A. Methylated. Phosphorylated in Ser-249 Thr-273 and Ser-276 by HIPK2 when associated with CBFB and DNA. This phosphorylation promotes subsequent EP300 phosphorylation.

Disease relevance. A chromosomal aberration involving RUNX1/AML1 is a cause of M2 type acute myeloid leukemia (AML-M2). Translocation t(8;21)(q22;q22) with RUNX1T1. A chromosomal aberration involving RUNX1/AML1 is a cause of therapy-related myelodysplastic syndrome (T-MDS). Translocation t(3;21)(q26;q22) with EAP or MECOM. A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelogenous leukemia (CML). Translocation t(3;21)(q26;q22) with EAP or MECOM. A chromosomal aberration involving RUNX1/AML1 is found in childhood acute lymphoblastic leukemia (ALL). Translocation t(12;21)(p13;q22) with TEL. The translocation fuses the 3’-end of TEL to the alternate 5’-exon of AML-1H. A chromosomal aberration involving RUNX1 is found in acute leukemia. Translocation t(11,21)(q13;q22) that forms a MACROD1-RUNX1 fusion protein. Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399] Autosomal dominant disease characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia. The disease is caused by variants affecting the gene represented in this entry. A chromosomal aberration involving RUNX1/AML1 is found in therapy-related myeloid malignancies. Translocation t(16;21)(q24;q22) that forms a RUNX1-CBFA2T3 fusion protein. A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelomonocytic leukemia. Inversion inv(21)(q21;q22) with USP16. A chromosomal aberration involving RUNX1/AML1 is found in acute myeloid leukemia. Translocation t(20;21)(q11;q22) with CBFA2T2.

Domain organisation. A proline/serine/threonine rich region at the C-terminus is necessary for transcriptional activation of target genes.

Induction. Up-regulated by phorbol myristate acetate (PMA).

Isoforms (11)

UniProt ID	Names	Canonical?
Q01196-1	AML-1B	yes
Q01196-2	AML-1A
Q01196-3	AML-1C
Q01196-4	AML-1E
Q01196-5	AML-1FA
Q01196-6	AML-1FB
Q01196-7	AML-1FC
Q01196-8	AML-1G
Q01196-9	AML-1H
Q01196-10	AML-1I
Q01196-11	AML-1L, AML1-delta N

RefSeq proteins (3): NP_001001890, NP_001116079, NP_001745* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000040	AML1_Runt	Family
IPR008967	p53-like_TF_DNA-bd_sf	Homologous_superfamily
IPR012346	p53/RUNT-type_TF_DNA-bd_sf	Homologous_superfamily
IPR013524	Runt_dom	Domain
IPR013711	RunxI_C_dom	Domain
IPR016554	TF_Runt-rel_RUNX	Family
IPR027384	Runx_central_dom_sf	Homologous_superfamily

Pfam: PF00853, PF08504

UniProt features (91 total): mutagenesis site 21, splice variant 14, strand 14, modified residue 13, region of interest 10, compositionally biased region 4, binding site 4, sequence variant 4, site 2, helix 2, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
1LJM	X-RAY DIFFRACTION	2.5
1E50	X-RAY DIFFRACTION	2.6
1H9D	X-RAY DIFFRACTION	2.6
1CMO	SOLUTION NMR
1CO1	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q01196-F1	61.76	0.27

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 177–178 (breakpoint for translocation to form aml1-emv-1 (or aml1-eap) in cml and t-mds, to form aml1-mtg8 (eto) in aml-m2, to form aml1-cbfa2t3 in therapy-related myeloid malignancies, to form aml1-mecom in cml and to form type i macrod1-runx1 fusion protein); 241–242 (breakpoint for translocation to form aml1-eap in t-mds and cml, to form type ii macrod1-runx1 fusion protein and to form runx1-cbfa2t2 in acute myeloid leukemia)

Ligand- & substrate-binding residues (4): 112; 116; 139; 170

Post-translational modifications (13): 14, 21, 24, 43, 193, 212, 249, 266, 268, 273, 276, 296, 435

Mutagenesis-validated functional residues (21):

Position	Phenotype
67	loss of heterodimerization and reduced ep300 phosphorylation induction.
80	strongly reduces dna-binding.
83	strongly reduces dna-binding.
83	strongly reduces dna-binding, impaired phosphorylation and reduced ep300 phosphorylation induction.
84	no effect on dna binding.
106	disrupts interaction of aml1-mtg8/eto with cbfb, no effect on aml1-mtg8/eto-mediated transformation activity.
107	loss of heterodimerization. disrupts interactionof aml1-mtg8/eto with cbfb, no effect on aml1-mtg8/eto-mediated transfor
108	loss of heterodimerization and impaired phosphorylation.
135	strongly reduces dna-binding.
139	strongly reduces dna-binding.
140	disrupts aml1-mtg8/eto dna-binding, decreases aml1-mtg8/eto transforming activity.
142	strongly reduces dna-binding.
145–453	no dna-binding.
167	reduces dna-binding.
169	strongly reduces dna-binding.
171	strongly reduces dna-binding.
174	strongly reduces dna-binding.
177	strongly reduces dna-binding.
249	reduced phosphorylation.
273	reduced phosphorylation; when associated with a-276.
276	reduced phosphorylation; when associated with a-273.

Function

Pathways and Gene Ontology

Reactome pathways

43 pathways

ID	Pathway
R-HSA-1912408	Pre-NOTCH Transcription and Translation
R-HSA-549127	SLC-mediated transport of organic cations
R-HSA-8877330	RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
R-HSA-8931987	RUNX1 regulates estrogen receptor mediated transcription
R-HSA-8934593	Regulation of RUNX1 Expression and Activity
R-HSA-8935964	RUNX1 regulates expression of components of tight junctions
R-HSA-8936459	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
R-HSA-8939236	RUNX1 regulates transcription of genes involved in differentiation of HSCs
R-HSA-8939242	RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
R-HSA-8939243	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
R-HSA-8939245	RUNX1 regulates transcription of genes involved in BCR signaling
R-HSA-8939246	RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
R-HSA-8939247	RUNX1 regulates transcription of genes involved in interleukin signaling
R-HSA-8939256	RUNX1 regulates transcription of genes involved in WNT signaling
R-HSA-8941333	RUNX2 regulates genes involved in differentiation of myeloid cells
R-HSA-8951936	RUNX3 regulates p14-ARF
R-HSA-9018519	Estrogen-dependent gene expression
R-HSA-9616222	Transcriptional regulation of granulopoiesis
R-HSA-9692916	SARS-CoV-1 activates/modulates innate immune responses
R-HSA-9942503	Differentiation of naive CD4+ T cells to T helper 1 cells (Th1 cells)
R-HSA-1266738	Developmental Biology
R-HSA-157118	Signaling by NOTCH
R-HSA-162582	Signal Transduction
R-HSA-1643685	Disease
R-HSA-1912422	Pre-NOTCH Expression and Processing
R-HSA-212436	Generic Transcription Pathway
R-HSA-382551	Transport of small molecules
R-HSA-425366
R-HSA-425407	SLC-mediated transmembrane transport
R-HSA-549132

MSigDB gene sets: 697 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, AHRARNT_01, FERRANDO_TAL1_NEIGHBORS, GCACCTT_MIR18A_MIR18B, GOBP_REGULATION_OF_CELL_ACTIVATION, REACTOME_SIGNALING_BY_NOTCH, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_CARTILAGE_DEVELOPMENT, MORF_MSH3, GOBP_SKELETAL_SYSTEM_DEVELOPMENT

GO Biological Process (29): negative regulation of transcription by RNA polymerase II (GO:0000122), ossification (GO:0001503), chondrocyte differentiation (GO:0002062), myeloid leukocyte differentiation (GO:0002573), regulation of transcription by RNA polymerase II (GO:0006357), regulation of plasminogen activation (GO:0010755), hemopoiesis (GO:0030097), myeloid cell differentiation (GO:0030099), neuron differentiation (GO:0030182), negative regulation of granulocyte differentiation (GO:0030853), positive regulation of granulocyte differentiation (GO:0030854), positive regulation of interleukin-2 production (GO:0032743), positive regulation of collagen biosynthetic process (GO:0032967), negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371), positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378), regulation of cell differentiation (GO:0045595), positive regulation of angiogenesis (GO:0045766), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), peripheral nervous system neuron development (GO:0048935), regulation of cardiac muscle cell proliferation (GO:0060043), cardiac muscle tissue regeneration (GO:0061026), hematopoietic stem cell proliferation (GO:0071425), positive regulation of extracellular matrix organization (GO:1903055), regulation of connective tissue replacement (GO:1905203), regulation of DNA-templated transcription (GO:0006355), positive regulation of developmental process (GO:0051094), positive regulation of multicellular organismal process (GO:0051240), regulation of multicellular organismal development (GO:2000026)

GO Molecular Function (16): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), transcription corepressor binding (GO:0001222), transcription coactivator binding (GO:0001223), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), calcium ion binding (GO:0005509), ATP binding (GO:0005524), protein homodimerization activity (GO:0042803), protein heterodimerization activity (GO:0046982), DNA-binding transcription factor binding (GO:0140297), protein binding (GO:0005515), sequence-specific double-stranded DNA binding (GO:1990837)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), core-binding factor complex (GO:0016513)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
Transcriptional regulation by RUNX1	12
Pre-NOTCH Expression and Processing	1
SLC-mediated transmembrane transport	1
Transcriptional regulation by RUNX2	1
Transcriptional regulation by RUNX3	1
ESR-mediated signaling	1
Developmental Biology	1
SARS-CoV-1-host interactions	1
Differentiation of T cells	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell differentiation	4
regulation of transcription by RNA polymerase II	3
transcription by RNA polymerase II	3
regulation of DNA-templated transcription	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
granulocyte differentiation	2
regulation of granulocyte differentiation	2
transcription cis-regulatory region binding	2
transcription coregulator binding	2
protein dimerization activity	2
cellular anatomical structure	2
negative regulation of DNA-templated transcription	1
multicellular organismal process	1
cartilage development	1
leukocyte differentiation	1
myeloid cell differentiation	1
plasminogen activation	1
regulation of protein processing	1
cell development	1
hemopoiesis	1
generation of neurons	1
negative regulation of myeloid leukocyte differentiation	1
positive regulation of myeloid leukocyte differentiation	1
positive regulation of cytokine production	1
interleukin-2 production	1
regulation of interleukin-2 production	1
positive regulation of biosynthetic process	1
positive regulation of collagen metabolic process	1
collagen biosynthetic process	1
regulation of collagen biosynthetic process	1
CD4-positive, alpha-beta T cell differentiation	1
regulation of CD4-positive, alpha-beta T cell differentiation	1
negative regulation of alpha-beta T cell differentiation	1
negative regulation of CD4-positive, alpha-beta T cell activation	1
CD8-positive, alpha-beta T cell differentiation	1
regulation of CD8-positive, alpha-beta T cell differentiation	1
positive regulation of alpha-beta T cell differentiation	1
positive regulation of CD8-positive, alpha-beta T cell activation	1
regulation of developmental process	1
regulation of cellular process	1

Protein interactions and networks

STRING

4422 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RUNX1	CBFB	Q13951	999
RUNX1	RUNX1T1	Q06455	998
RUNX1	ETS1	P14921	992
RUNX1	FOXP3	Q9BZS1	989
RUNX1	GATA2	P23769	982
RUNX1	ETV6	P41212	982
RUNX1	GATA1	P15976	978
RUNX1	LMO2	P25791	977
RUNX1	GATA3	P23771	977
RUNX1	TAL1	P17542	968
RUNX1	EP300	Q09472	960
RUNX1	CBFA2T3	O75081	955
RUNX1	HDAC1	Q13547	955
RUNX1	TCF3	P15883	932
RUNX1	LEF1	Q9UJU2	925
RUNX1	CEBPA	P49715	925

IntAct

142 interactions, top by confidence:

A	B	Type	Score
CBFB	RUNX1	psi-mi:“MI:0407”(direct interaction)	0.870
CBFB	RUNX1	psi-mi:“MI:0915”(physical association)	0.870
CBFB	RUNX1	psi-mi:“MI:0914”(association)	0.870
RUNX1	CBFB	psi-mi:“MI:0915”(physical association)	0.870
HIPK2	RUNX1	psi-mi:“MI:0915”(physical association)	0.640
HIPK2	RUNX1	psi-mi:“MI:0217”(phosphorylation reaction)	0.640
RUNX1	HIPK2	psi-mi:“MI:0915”(physical association)	0.640
CDK6	RUNX1	psi-mi:“MI:2364”(proximity)	0.630
CDK6	RUNX1	psi-mi:“MI:0915”(physical association)	0.630
TAL1	RUNX1	psi-mi:“MI:0915”(physical association)	0.620
TAL1	KDM1A	psi-mi:“MI:0914”(association)	0.560
RUNX1	ELF2	psi-mi:“MI:0407”(direct interaction)	0.540
RUNX1	ELF2	psi-mi:“MI:0915”(physical association)	0.540
DNAJB8	DNAJB6	psi-mi:“MI:0914”(association)	0.530
WWTR1	RUNX1	psi-mi:“MI:0407”(direct interaction)	0.530
RUNX1	WWTR1	psi-mi:“MI:0915”(physical association)	0.530
TAL1	ETS1	psi-mi:“MI:0914”(association)	0.500
RUNX1	AKT1	psi-mi:“MI:0915”(physical association)	0.450
RUNX1	AKT1	psi-mi:“MI:2364”(proximity)	0.450
RUNX1		psi-mi:“MI:0407”(direct interaction)	0.440
RUNX1	YAP1	psi-mi:“MI:0407”(direct interaction)	0.440
FOXP3	RUNX1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (430): YAP1 (Affinity Capture-Western), RUNX1 (Biochemical Activity), CBFB (Affinity Capture-Western), RUNX1 (Affinity Capture-Western), RAG1 (Affinity Capture-Western), RUNX1 (Co-purification), RUNX1 (Affinity Capture-Western), RUNX1 (Reconstituted Complex), SPI1 (Reconstituted Complex), ELF1 (Reconstituted Complex), RUNX1 (Affinity Capture-MS), RUNX1 (Co-localization), CBFB (Affinity Capture-Western), RUNX1 (Affinity Capture-Western), RUNX1 (Affinity Capture-Western)

ESM2 similar proteins: A0A084AFG9, A0A0D1C1H8, A0A0D1CY03, A0A142C7A3, A0A364LYQ6, A0A3G1DJJ7, A0A7M4BDQ2, A1CBG9, A1DDX0, A2RA63, B0Y1D1, B0Y8Y9, B4XXY3, B6H7F3, B8N0E6, G0RS98, G3Y415, G4NEE4, G5EB20, N4XMB0, O00167, O13719, P20945, P34440, P87233, P9WER3, Q01196, Q03347, Q04461, Q08775, Q13761, Q13950, Q1K8E7, Q2U9L6, Q4WD42, Q4WV91, Q4WVI6, Q4WW99, Q4WWN2, Q58DB6

Diamond homologs: G5EFQ5, P22814, Q01196, Q03347, Q08775, Q13761, Q13950, Q25520, Q63046, Q64131, Q6PF39, Q9W349, Q9Z2J9, Q9XSB7

SIGNOR signaling

84 interactions.

A	Effect	B	Mechanism
KAT6A	up-regulates	RUNX1	binding
CDK1	up-regulates	RUNX1	phosphorylation
CDK1	“up-regulates activity”	RUNX1	phosphorylation
CDK2	“up-regulates activity”	RUNX1	phosphorylation
CDK6	up-regulates	RUNX1	phosphorylation
CDK6	“up-regulates activity”	RUNX1	phosphorylation
MAPK1	“up-regulates activity”	RUNX1	phosphorylation
CDK1	“down-regulates quantity by destabilization”	RUNX1	phosphorylation
CDK2	“down-regulates activity”	RUNX1	phosphorylation
CyclinB/CDK1	up-regulates	RUNX1	phosphorylation
KAT6A/KAT6B	up-regulates	RUNX1	binding
CyclinA2/CDK2	“down-regulates activity”	RUNX1	phosphorylation
ERK1/2	up-regulates	RUNX1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 139 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	6	19.0×	2e-04
NOTCH1 Intracellular Domain Regulates Transcription	6	15.0×	4e-04
SUMOylation of transcription cofactors	5	12.8×	3e-03
Constitutive Signaling by NOTCH1 PEST Domain Mutants	6	12.4×	8e-04
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	6	12.4×	8e-04
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	8	12.3×	1e-04
Transcriptional regulation by RUNX1	6	9.2×	3e-03
mRNA Splicing - Major Pathway	9	5.2×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of protein localization to nucleus	6	18.2×	3e-04
negative regulation of protein catabolic process	5	14.2×	4e-03
cellular response to UV	5	11.5×	7e-03
positive regulation of fibroblast proliferation	5	11.5×	7e-03
positive regulation of miRNA transcription	5	11.3×	7e-03
osteoblast differentiation	7	6.6×	7e-03
transcription by RNA polymerase II	9	4.9×	7e-03
positive regulation of gene expression	15	4.5×	4e-04

Disease & clinical

Cancer significance

From CIViC — curated cancer-variant interpretation:

RUNX1 is a transcription factor that forms a complex with the cofactor CBFB. This complex provides stability to the RUNX1 protein which is involved in the generation of hematopoietic stem cells and for their differentiation into myeloid and lymphoid lines. Loss of RUNX1 function has been shown to impair differentiation between myeloid and lymphoid lines often resulting in the development of leukemia.

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 5 cancer types — ACYC, ALL, AML, BRCA, GBM.

Clinical variants and AI predictions

ClinVar

1866 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	137
Likely pathogenic	113
Uncertain significance	1026
Likely benign	471
Benign	110

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1013200	GRCh37/hg19 21q22.12(chr21:36164432-36421257)x1	Pathogenic
1013619	NM_001754.5(RUNX1):c.165dup (p.Leu56fs)	Pathogenic
1013620	NM_001754.5(RUNX1):c.588del (p.Val197fs)	Pathogenic
1067688	NC_000021.8:g.(?36231761)(36231885_?)del	Pathogenic
1068986	NM_001754.5(RUNX1):c.713_726del (p.Val238fs)	Pathogenic
1069299	NM_001754.5(RUNX1):c.140_150del (p.Leu47fs)	Pathogenic
1069843	NC_000021.8:g.(?36164426)(36421202_?)del	Pathogenic
1069844	NC_000021.8:g.(?36421133)(36421202_?)del	Pathogenic
1071785	NM_001754.5(RUNX1):c.777dup (p.Asn260Ter)	Pathogenic
1073884	NM_001754.5(RUNX1):c.601dup (p.Arg201fs)	Pathogenic
1073907	NM_001754.5(RUNX1):c.247dup (p.Ala83fs)	Pathogenic
1074352	NM_001754.5(RUNX1):c.664dup (p.Ser222fs)	Pathogenic
1074523	NM_001754.5(RUNX1):c.528_531dup (p.Thr178fs)	Pathogenic
1075910	NC_000021.8:g.(?36164426)(36171765_?)del	Pathogenic
1076589	NM_001754.5(RUNX1):c.149_158dup (p.Ser53fs)	Pathogenic
1194557	NM_001754.5(RUNX1):c.1242C>G (p.Tyr414Ter)	Pathogenic
1333011	Single allele	Pathogenic
1338044	NM_001754.5(RUNX1):c.830del (p.Pro277fs)	Pathogenic
1363605	NM_001754.5(RUNX1):c.503del (p.Gly168fs)	Pathogenic
1438546	NM_001754.5(RUNX1):c.585del (p.Thr196fs)	Pathogenic
14463	NM_001754.4(RUNX1):c.352-1G>T	Pathogenic
14465	NM_001754.5(RUNX1):c.328A>G (p.Lys110Glu)	Pathogenic
14466	NM_001754.5(RUNX1):c.508+3del	Pathogenic
14467	NM_001754.5(RUNX1):c.861C>A (p.Tyr287Ter)	Pathogenic
14468	NM_001754.5(RUNX1):c.400G>C (p.Ala134Pro)	Pathogenic
14470	NM_001754.5(RUNX1):c.442_449del (p.Thr148fs)	Pathogenic
1457966	NC_000021.8:g.(?36182049)(36231885_?)del	Pathogenic
1459069	NM_001754.5(RUNX1):c.496C>T (p.Arg166Ter)	Pathogenic
1459404	NC_000021.8:g.(?36231761)(36253020_?)del	Pathogenic
1460018	NM_001754.5(RUNX1):c.637del (p.Gln213fs)	Pathogenic

SpliceAI

2341 predictions. Top by Δscore:

Variant	Effect	Δscore
21:34792606:TGCCG:T	acceptor_gain	1.0000
21:34792607:GCCG:G	acceptor_gain	1.0000
21:34792608:CCG:C	acceptor_gain	1.0000
21:34792608:CCGC:C	acceptor_gain	1.0000
21:34792609:CG:C	acceptor_gain	1.0000
21:34792609:CGC:C	acceptor_gain	1.0000
21:34792611:C:CC	acceptor_gain	1.0000
21:34799299:A:AC	donor_gain	1.0000
21:34799300:C:CC	donor_gain	1.0000
21:34859467:CACTT:C	donor_loss	1.0000
21:34859468:ACTTA:A	donor_loss	1.0000
21:34859471:TACTT:T	donor_loss	1.0000
21:34859472:A:AC	donor_gain	1.0000
21:34859472:A:C	donor_loss	1.0000
21:34859473:C:CT	donor_gain	1.0000
21:34859473:CT:C	donor_gain	1.0000
21:34859473:CTT:C	donor_gain	1.0000
21:34859575:TTCC:T	acceptor_gain	1.0000
21:34859576:TCC:T	acceptor_gain	1.0000
21:34859577:CC:C	acceptor_gain	1.0000
21:34859577:CCC:C	acceptor_gain	1.0000
21:34859578:CC:C	acceptor_gain	1.0000
21:34859579:C:CC	acceptor_gain	1.0000
21:34859579:CTGT:C	acceptor_loss	1.0000
21:34859580:T:A	acceptor_loss	1.0000
21:34859588:C:CT	acceptor_gain	1.0000
21:34859590:CGA:C	acceptor_gain	1.0000
21:34859591:G:T	acceptor_gain	1.0000
21:34880551:ACGT:A	donor_loss	1.0000
21:34880554:TA:T	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000001120 (21:34838090 A>T), RS1000002171 (21:34914598 G>A), RS1000009443 (21:34865869 C>T), RS1000017149 (21:34921070 G>A), RS1000023722 (21:34950876 G>A), RS1000029636 (21:35041408 T>C), RS1000041335 (21:35047260 C>G,T), RS1000050733 (21:34794274 C>A), RS1000060121 (21:34788582 TAAC>T), RS1000066726 (21:34866669 T>C), RS1000079562 (21:34908760 C>T), RS1000088995 (21:34792890 G>A), RS1000092466 (21:35035652 C>T), RS1000104774 (21:34963188 G>T), RS1000116384 (21:35022865 A>G)

Disease associations

OMIM: gene MIM:151385 | disease phenotypes: MIM:601626, MIM:601399, MIM:231200, MIM:185050

GenCC curated gene-disease

Disease	Classification	Inheritance
hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	Definitive	Autosomal dominant
hereditary thrombocytopenia and hematologic cancer predisposition syndrome	Definitive	Autosomal dominant
acute myeloid leukemia	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
hereditary thrombocytopenia and hematologic cancer predisposition syndrome	Definitive	AD

Mondo (12): hereditary thrombocytopenia and hematologic cancer predisposition syndrome (MONDO:0011071), acute myeloid leukemia (MONDO:0018874), hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 (MONDO:0100083), thrombocytopenia (MONDO:0002049), hereditary neoplastic syndrome (MONDO:0015356), anaplastic ependymoma (MONDO:0016700), atypical chronic myeloid leukemia, BCR-ABL1 negative (MONDO:0004653), aggressive systemic mastocytosis (MONDO:0020333), inherited bleeding disorder, platelet-type (MONDO:0000009), Castleman-Kojima disease (MONDO:0018702), pancytopenia (MONDO:0001529), platelet storage pool deficiency (MONDO:0008495)

Orphanet (9): Acute myeloid leukemia (Orphanet:519), Familial platelet disorder with associated myeloid malignancy (Orphanet:71290), Inherited cancer-predisposing syndrome (Orphanet:140162), Anaplastic ependymoma (Orphanet:251646), Atypical chronic myeloid leukemia (Orphanet:98824), Aggressive systemic mastocytosis (Orphanet:98850), Rare hemorrhagic disorder due to a platelet anomaly (Orphanet:248326), TAFRO syndrome (Orphanet:457077), Alpha delta granule deficiency (Orphanet:734)

HPO phenotypes

68 total (30 of 68 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000421	Epistaxis
HP:0000939	Osteoporosis
HP:0000967	Petechiae
HP:0000978	Bruising susceptibility
HP:0000979	Purpura
HP:0000989	Pruritus
HP:0001025	Urticaria
HP:0001409	Portal hypertension
HP:0001410	Decreased liver function
HP:0001433	Hepatosplenomegaly
HP:0001442	Typified by somatic mosaicism
HP:0001541	Ascites
HP:0001744	Splenomegaly
HP:0001824	Weight loss
HP:0001871	Abnormality of blood and blood-forming tissues
HP:0001873	Thrombocytopenia
HP:0001875	Decreased total neutrophil count
HP:0001876	Pancytopenia
HP:0001894	Thrombocytosis
HP:0001903	Anemia
HP:0001909	Leukemia
HP:0001911	Abnormal granulocyte morphology
HP:0001912	Abnormal basophil morphology
HP:0001945	Fever
HP:0001971	Hypersplenism
HP:0001974	Increased total leukocyte count
HP:0002014	Diarrhea
HP:0002024	Malabsorption
HP:0002027	Abdominal pain

GWAS associations

122 associations (top):

Study	Trait	p-value
GCST001089_10	Esophageal cancer	8.000000e-22
GCST001178_17	Plasma omega-3 polyunsaturated fatty acid level (eicosapentaenoic acid)	2.000000e-07
GCST001491_30	Immune response to smallpox vaccine (IL-6)	5.000000e-07
GCST001949_15	Preeclampsia	5.000000e-06
GCST002318_54	Rheumatoid arthritis	3.000000e-09
GCST002318_55	Rheumatoid arthritis	2.000000e-08
GCST002568_8	Esophageal squamous cell carcinoma	8.000000e-09
GCST002874_29	Psoriasis	6.000000e-08
GCST002874_32	Psoriasis	4.000000e-08
GCST003983_25	Male-pattern baldness	4.000000e-11
GCST004600_115	Eosinophil percentage of white cells	1.000000e-10
GCST004600_116	Eosinophil percentage of white cells	7.000000e-57
GCST004600_117	Eosinophil percentage of white cells	1.000000e-14
GCST004600_118	Eosinophil percentage of white cells	1.000000e-14
GCST004603_287	Platelet count	6.000000e-11
GCST004606_66	Eosinophil count	3.000000e-12
GCST004606_67	Eosinophil count	2.000000e-56
GCST004606_93	Eosinophil count	7.000000e-16
GCST004606_94	Eosinophil count	2.000000e-13
GCST004607_187	Plateletcrit	3.000000e-10
GCST004617_39	Eosinophil percentage of granulocytes	1.000000e-10
GCST004617_40	Eosinophil percentage of granulocytes	1.000000e-50
GCST004617_41	Eosinophil percentage of granulocytes	2.000000e-11
GCST004617_42	Eosinophil percentage of granulocytes	2.000000e-13
GCST004618_53	White blood cell count (basophil)	3.000000e-14
GCST004623_41	Neutrophil percentage of granulocytes	1.000000e-38
GCST004623_42	Neutrophil percentage of granulocytes	1.000000e-11
GCST004624_26	Sum eosinophil basophil counts	7.000000e-12
GCST004624_73	Sum eosinophil basophil counts	2.000000e-09
GCST004624_74	Sum eosinophil basophil counts	8.000000e-43

EFO canonical traits (33, from GWAS)

EFO ID	Trait name
EFO:0007760	eicosapentaenoic acid measurement
EFO:0004645	response to vaccine
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004309	platelet count
EFO:0004842	eosinophil count
EFO:0007985	platelet crit
EFO:0007996	eosinophil percentage of granulocytes
EFO:0005090	basophil count
EFO:0007994	neutrophil percentage of granulocytes
EFO:0007992	basophil percentage of leukocytes
EFO:0007995	basophil percentage of granulocytes
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0009270	heel bone mineral density
EFO:0004511	femoral neck bone geometry
EFO:0009603	stroke outcome severity measurement
EFO:1002011	adult onset asthma
EFO:0009941	Inhalant adrenergic use measurement
EFO:0007710	cognitive decline measurement
EFO:0005193	serum IgG glycosylation measurement
EFO:0004509	hemoglobin measurement
EFO:0007874	gut microbiome measurement
EFO:0011018	brain-derived neurotrophic factor measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0004531	urate measurement
EFO:0004980	appendicular lean mass
EFO:0004251	myeloproliferative disorder
EFO:0004348	hematocrit
EFO:0004527	mean corpuscular hemoglobin
EFO:0005091	monocyte count
EFO:0007989	monocyte percentage of leukocytes

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D015470	Leukemia, Myeloid, Acute	C04.557.337.539.275; C15.378.508.539.275
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700
D010198	Pancytopenia	C15.378.243.875
D010981	Platelet Storage Pool Deficiency	C15.378.100.685; C15.378.140.735; C15.378.463.735
D013921	Thrombocytopenia	C15.378.140.855; C15.378.243.937
C563324	Platelet Disorder, Familial, with Associated Myeloid Malignancy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL1615385 (SINGLE PROTEIN), CHEMBL2093862 (PROTEIN-PROTEIN INTERACTION)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 6,816 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL3187985	APOMORPHINE HYDROCHLORIDE	4	5,278
CHEMBL1232461	MOLIBRESIB	2	1,538

Clinical evidence (CIViC)

Drug × variant × indication: 1 predictive associations from 1 curated evidence items; also 6 prognostic, 6 predisposing.

Variant	Therapy	Indication	Effect	Level	CIViC
RUNX1 Mutation	Cytarabine	Acute Myeloid Leukemia	Resistance	CIViC B	EID411

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs11702779	RUNX1		0.00	0

Binding affinities (BindingDB)

84 measured of 95 human assays (114 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
thiazol-2-amine, 14	IC50	1100 nM
4-[(5-thiophen-2-yl-2-thiophenyl)methylideneamino]phenol	IC50	1680 nM
2-[(6,7-dihydroxy-2-keto-chromen-4-yl)methylthio]-3-(3-methoxyphenyl)quinazolin-4-one	IC50	2720 nM
thiazol-2-amine, 5	IC50	3000 nM
2-Imino-1-(4-methyl-benzyl)-10-oxo-1,10-dihydro-2H-1,9,10a-triaza-anthracene-3-carboxylic acid (furan-2-ylmethyl)-amide	IC50	3140 nM
MLS000082179	EC50	3160 nM
thiazol-2-amine, 17	IC50	3200 nM
thiazol-2-amine, 13	IC50	3300 nM
MLS000557332	IC50	3900 nM
2-Amino-1-furan-2-ylmethyl-1H-pyrrolo[2,3-b]quinoxaline-3-carboxylic acid isobutyl-amide	IC50	4400 nM
(7-hydroxy-2-oxochromen-4-yl)methyl 2-(3-oxo-4H-1,4-benzothiazin-2-yl)acetate	IC50	4870 nM
4-amino-5-methoxy-9(10H)-acridinone	IC50	6380 nM
2-amino-1-(2-furanylmethyl)-N-[2-(4-morpholinyl)ethyl]-3-pyrrolo[3,2-b]quinoxalinecarboxamide	IC50	6490 nM
thiazol-2-amine, 8	IC50	6500 nM
MLS000084335	EC50	7120 nM
SMR000217534	IC50	7940 nM
MLS-0111397.0001	EC50	9710 nM
MLS000559785	IC50	10100 nM
Dimethyl-[4-(2-methyl-5,6-dihydro-pyrazolo[1,5-c]quinazolin-5-yl)-phenyl]-amine	EC50	10800 nM
MLS000566445	IC50	11600 nM
3-(2-aminoethylamino)-7-(phenylmethyl)-1-[(phenylmethyl)amino]-6,8-dihydro-5H-2,7-naphthyridine-4-carbonitrile	IC50	11800 nM
thiazol-2-amine, 6	IC50	12000 nM
thiazol-2-amine, 9	IC50	12000 nM
(9-Oxo-9H-acridin-10-yl)-acetic acid (2,5-dimethyl-1-p-tolyl-1H-pyrrol-3-ylmethylene)-hydrazide	IC50	13000 nM
MLS000336228	IC50	14400 nM
3-[9-[3-chloro-4-(4-methylphenyl)sulfonyloxyphenyl]-1,8-dioxo-3,4,5,6,7,9-hexahydro-2H-acridin-10-yl]propanoic acid	IC50	14600 nM
(6aS)-6-methyl-5,6,6a,7-tetrahydro-4H-dibenzo[de,g]quinoline-10,11-diol;hydrochloride	EC50	16100 nM
cid_1284208	EC50	16100 nM
thiazol-2-amine, 19	IC50	16500 nM
3-Amino-6,7,8,9-tetrahydro-5H-1-thia-10-aza-cyclohepta[f]indene-2-carboxylic acid (5-ethyl-[1,3,4]thiadiazol-2-yl)-amide	IC50	16600 nM
dimethyl 1-(2-methoxyethyl)-4-(4-propoxyphenyl)-4H-pyridine-3,5-dicarboxylate	EC50	16700 nM
thiazol-2-amine, 20	IC50	17000 nM
N-[3-(benzenesulfonyl)-1-benzylpyrrolo[3,2-b]quinoxalin-2-yl]propanamide	EC50	17300 nM
thiazol-2-amine, 7	IC50	18000 nM
SMR000034668	IC50	20000 nM
thiazol-2-amine, 16	IC50	20500 nM
thiazol-2-amine, 11	IC50	22500 nM
thiazol-2-amine, 18	IC50	23500 nM
10-(4-methoxyphenyl)-3,4,6,7,9,10-hexahydro-1,8(2H,5H)-acridinedione	IC50	24000 nM
(4E)-4-[[3-(4-hydroxy-2-methylanilino)-1,4-dihydroquinoxalin-2-yl]imino]-3-methylcyclohexa-2,5-dien-1-one	IC50	24700 nM
3H-spiro[1,3-benzothiazole-2,3’-indol]-2’(1’H)-one	IC50	28200 nM
SMR000230916	IC50	30500 nM
SMR000127208	IC50	31200 nM
3-ethyl-2-[(E,3E)-3-(3-ethylthiazolidin-2-ylidene)prop-1-enyl]-2-thiazolin-3-ium;iodide	IC50	31500 nM
SMR000235790	EC50	38500 nM
MLS000042566	IC50	38800 nM
9-(3-bromo-5-ethoxy-4-prop-2-enoxyphenyl)-10-methyl-3,4,5,6,7,9-hexahydro-2H-acridine-1,8-dione	IC50	41200 nM
MLS000557330	EC50	41300 nM
(6aR)-6-methyl-5,6,6a,7-tetrahydro-4H-dibenzo[de,g]quinoline-10,11-diol;hydrate;hydrochloride	EC50	42300 nM
MLS000040311	IC50	43500 nM

ChEMBL bioactivities

67 potent at pChembl≥5 of 139 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.59	IC50	257	nM	CHEMBL1487114
6.54	IC50	290	nM	MOLIBRESIB
6.47	IC50	340	nM	CHEMBL1548014
6.43	IC50	372	nM	CHEMBL1492213
6.41	IC50	393	nM	CHEMBL1555914
6.37	IC50	429	nM	CHEMBL1998294
6.32	IC50	475	nM	CHEMBL1360981
6.20	IC50	629	nM	CHEMBL1299795
6.19	IC50	643	nM	CHEMBL1331901
6.15	IC50	713.4	nM	CHEMBL1372231
6.06	IC50	865	nM	CHEMBL1486938
5.98	IC50	1040	nM	CHEMBL427876
5.92	IC50	1190	nM	CHEMBL1429988
5.88	IC50	1330	nM	CHEMBL1424123
5.87	IC50	1350	nM	CHEMBL1333600
5.80	IC50	1600	nM	CHEMBL1372231
5.78	IC50	1670	nM	CHEMBL1987092
5.77	IC50	1690	nM	CHEMBL5817797
5.76	IC50	1720	nM	CHEMBL5861850
5.73	IC50	1860	nM	CHEMBL1505563
5.73	IC50	1865	nM	CHEMBL1323994
5.70	IC50	2000	nM	CHEMBL1499658
5.69	IC50	2040	nM	CHEMBL1303198
5.67	IC50	2160	nM	CHEMBL5767058
5.67	IC50	2140	nM	CHEMBL1328822
5.65	IC50	2220	nM	CHEMBL1339329
5.63	IC50	2340	nM	CHEMBL1529346
5.62	IC50	2370	nM	CHEMBL3196628
5.58	IC50	2650	nM	CHEMBL5985101
5.58	IC50	2650	nM	CHEMBL6030757
5.57	IC50	2710	nM	CHEMBL1410686
5.54	IC50	2890	nM	CHEMBL1348645
5.53	IC50	2970	nM	CHEMBL5860717
5.52	IC50	3050	nM	CHEMBL1567923
5.50	IC50	3190	nM	CHEMBL3675778
5.47	IC50	3380	nM	CHEMBL1479811
5.45	IC50	3576	nM	CHEMBL1483506
5.44	IC50	3636	nM	CHEMBL1353698
5.43	IC50	3680	nM	CHEMBL1420108
5.42	IC50	3780	nM	CHEMBL1301322
5.38	IC50	4200	nM	CHEMBL504791
5.34	IC50	4570	nM	CHEMBL1453264
5.33	IC50	4690	nM	CHEMBL3209562
5.32	IC50	4830	nM	CHEMBL5842188
5.32	IC50	4740	nM	CHEMBL1428024
5.30	IC50	4970	nM	CHEMBL5878001
5.30	IC50	4950	nM	CHEMBL1604389
5.29	IC50	5080	nM	CHEMBL1348271
5.27	IC50	5400	nM	CHEMBL1412731
5.26	IC50	5510	nM	CHEMBL1378709

PubChem BioAssay actives

13 with measured affinity, of 43 total; 8 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2178832: Inhibition of RUNX1 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	0.2900	uM
4-(2-chlorophenyl)-1,3-thiazol-2-amine	1799112: FRET Assay from Article 10.1016/j.chembiol.2007.09.006: “Allosteric inhibition of the protein-protein interaction between the leukemia-associated proteins Runx1 and CBFbeta.”	ic50	0.7000	uM
4-[4-(trifluoromethyl)phenyl]-1,3-thiazol-2-amine	1799112: FRET Assay from Article 10.1016/j.chembiol.2007.09.006: “Allosteric inhibition of the protein-protein interaction between the leukemia-associated proteins Runx1 and CBFbeta.”	ic50	3.0000	uM
4-(4-methoxyphenyl)-5-propyl-1,3-thiazol-2-amine	1799112: FRET Assay from Article 10.1016/j.chembiol.2007.09.006: “Allosteric inhibition of the protein-protein interaction between the leukemia-associated proteins Runx1 and CBFbeta.”	ic50	3.2000	uM
5-ethyl-4-(4-methoxyphenyl)-1,3-thiazol-2-amine	1799112: FRET Assay from Article 10.1016/j.chembiol.2007.09.006: “Allosteric inhibition of the protein-protein interaction between the leukemia-associated proteins Runx1 and CBFbeta.”	ic50	3.2000	uM
4-(2-methylphenyl)-1,3-thiazol-2-amine	1799112: FRET Assay from Article 10.1016/j.chembiol.2007.09.006: “Allosteric inhibition of the protein-protein interaction between the leukemia-associated proteins Runx1 and CBFbeta.”	ic50	3.3000	uM
4-(3-chlorophenyl)-1,3-thiazol-2-amine	1799112: FRET Assay from Article 10.1016/j.chembiol.2007.09.006: “Allosteric inhibition of the protein-protein interaction between the leukemia-associated proteins Runx1 and CBFbeta.”	ic50	6.5000	uM
4-(1,3-benzodioxol-5-yl)-1,3-thiazol-2-amine	1799112: FRET Assay from Article 10.1016/j.chembiol.2007.09.006: “Allosteric inhibition of the protein-protein interaction between the leukemia-associated proteins Runx1 and CBFbeta.”	ic50	6.5000	uM

CTD chemical–gene interactions

85 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases methylation, increases expression	4
Cisplatin	decreases expression, increases reaction	3
Doxorubicin	decreases expression, increases expression, increases response to substance	3
Aflatoxin B1	increases expression, increases methylation	3
Calcitriol	decreases expression, increases expression, affects cotreatment	2
Chelating Agents	affects binding, increases expression	2
Copper	affects binding, increases expression	2
Estradiol	increases expression, affects cotreatment	2
Etoposide	increases mutagenesis, increases response to substance	2
Tretinoin	decreases expression	2
Asbestos, Crocidolite	affects expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
HDN-1 compound	decreases expression	1
epacadostat	decreases reaction, increases expression	1
dicrotophos	increases expression	1
cinobufagin	increases expression	1
tungsten carbide	increases expression, affects binding	1
chloroacetaldehyde	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation, decreases methylation	1
N(4)-hydroxycytidine	decreases expression	1
arsenite	decreases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	affects expression	1
sodium arsenite	affects methylation	1
cobaltous chloride	increases expression	1
butyraldehyde	decreases expression	1
beryllium sulfate	affects binding, increases reaction	1
ochratoxin A	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1

ChEMBL screening assays

20 unique, capped per target: 17 binding, 3 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697562	Binding	Inhibition of RUNX1 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature
CHEMBL1737904	Functional	PubChem BioAssay. qHTS Assay for Compounds Blocking the Interaction Between CBF-beta and RUNX1 for the Treatment of Acute Myeloid Leukemia: Hit Validation with Orthogonal Assay. (Class of assay: confirmatory)	PubChem BioAssay data set

Cellosaurus cell lines

37 cell lines: 28 cancer cell line, 5 embryonic stem cell, 4 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_0011	KM-3	Cancer cell line	Female
CVCL_0589	Kasumi-1	Cancer cell line	Male
CVCL_1426	Mono-Mac-6	Cancer cell line	Male
CVCL_1650	Reh	Cancer cell line	Female
CVCL_2150	OCI-M2	Cancer cell line	Sex unspecified
CVCL_2196	SKNO-1	Cancer cell line	Male
CVCL_3943	KOPN-41	Cancer cell line	Male
CVCL_8462	NOI-90	Cancer cell line	Female
CVCL_8857	EU-1	Cancer cell line	Female
CVCL_A049	WSU-CLL	Cancer cell line	Female

Clinical trials (associated diseases)

301 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
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
NCT02386800	PHASE4	ACTIVE_NOT_RECRUITING	CINC424A2X01B Rollover Protocol
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
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).
NCT00000589	PHASE3	COMPLETED	Trial to Reduce Alloimmunization to Platelets (TRAP)
NCT00044486	PHASE3	COMPLETED	Prophylaxis Trial of Posaconazole Versus Standard Azole Therapy for Neutropenic Patients (Study P01899)
NCT00093990	PHASE3	COMPLETED	Tipifarnib Versus Best Supportive Care in the Treatment of Newly Diagnosed Acute Myeloid Leukemia (AML)
NCT00125606	PHASE3	TERMINATED	Phase 3 Trial for AML Patients in CR2 Comparing 8Gy TBI /Fludarabine to Conditioning With TBI 12Gy/Cyclophosphamide
NCT00136084	PHASE3	COMPLETED	Treatment of Patients With Newly Diagnosed Acute Myeloid Leukemia or Myelodysplasia
NCT00146120	PHASE3	COMPLETED	Risk-Adapted Therapy of Acute Myeloid Leukemia of Adults (18-60 Years) According to the Cytogenetic Result
NCT00150878	PHASE3	TERMINATED	Standard vs. Reduced-Intensity Conditioning in Patients With Acute Myeloid Leukemia in First Remission
NCT00151255	PHASE3	COMPLETED	All-Trans Retinoic Acid in Combination With Standard Induction and Consolidation Therapy in Older Patients With Newly Diagnosed Acute Myeloid Leukemia
NCT00152139	PHASE3	COMPLETED	Stem Cell Transplantation for Patients With Hematologic Malignancies
NCT00152594	PHASE3	TERMINATED	Voriconazole or Placebo in the Prophylaxis of Lung Infiltrates in Patients Undergoing Induction Chemotherapy for Acute Myelogenous Leukemia
NCT00186966	PHASE3	COMPLETED	Treatment of Children and Adolescents With Refractory or Relapsed Acute Myeloid Leukemia
NCT00226512	PHASE3	WITHDRAWN	To Determine the Role of Adding Campath-1H or ATG Given In-vivo in Addition to Fludarabine and Low Dose Busulfex on Outcome in Patients Treated With Reduced Intensity Conditioning
NCT00260832	PHASE3	COMPLETED	Trial of Decitabine in Patients With Acute Myeloid Leukemia