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RUNX1 - RUNX family transcription factor 1
- Synonym(s) : aml1 oncogene, AMLCR1, PEBP2A2
- Previous symbols and names : AML1, CBFA2, acute myeloid leukemia 1, runt related transcription factor 1, runt-related transcription factor 1
- Type : gene with protein product
- Chromosomal location : 21q22.12
- OMIM: 151385
- HGNC: 10471
- UniProtKB: Q01196
- Genatlas: RUNX1
- Ensembl: ENSG00000159216
- IUPHAR-DB: -
- Reactome: Q01196
- LOVD: RUNX1
Diseases list
- Disease-causing germline mutation(s) in Familial platelet disorder with associated myeloid malignancy
ORPHA:71290 
- Disease-causing germline mutation(s) in Isolated delta-storage pool disease
ORPHA:248340 - Part of a fusion gene in Acute myeloid leukemia with t(8;21)(q22;q22) translocation
ORPHA:102724 - Part of a fusion gene in Precursor B-cell acute lymphoblastic leukemia
ORPHA:99860 - Biomarker tested in Chronic myeloid leukemia
ORPHA:521
: AssessedAdditional information
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