KMT2A Gene - CISMeF

Preferred Label : KMT2A Gene;

NCIt synonyms : MLL; MLL Gene; Lysine Methyltransferase 2A Gene;

NCIt related terms : KMT2A;

CISMeF acronym : KMT2A;

NCIt definition : This gene is involved in transcriptional regulation and alterations in the gene are associated with acute lymphoblastic leukemia.;

Details

Origin ID

C18585;

UMLS CUI

C0919528;

Automatic exact mappings (from CISMeF team)
- Lysine-specific methyltransferase 2a [OMIM gene]
- Lysine-specific methyltransferase 2a [OMIM Phenotype]
- MLL gene [LOINC component]
- Microliter/milliliter (qualifier value) [SNOMED CT concept]
- lysine methyltransferase 2A [ORDO Gene]
HGNC gene
- lysine methyltransferase 2A [HGNC gene]
OMIM relation
- Lysine-specific methyltransferase 2a [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Lysine-specific methyltransferase 2a [OMIM Phenotype]
- Lysine-specific methyltransferase 2a [OMIM gene]
- MLL gene [LOINC component]
- lysine methyltransferase 2A [ORDO Gene]
- lysine methyltransferase 2A [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- Histone-Lysine N-Methyltransferase 2A [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- KMT2A Gene Amplification [NCIt concept]
- KMT2A Gene Rearrangement [NCIt concept]
- KMT2A Gene Translocation [NCIt concept]
- KMT2A Partial Tandem Duplication [NCIt concept]
- KMT2A-AFF1 Fusion Protein Expression [NCIt concept]
- KMT2A-EEN Fusion Protein Expression [NCIt concept]
- KMT2A-ELL Fusion Protein Expression [NCIt concept]
- KMT2A-MLLT1 Fusion Protein Expression [NCIt concept]
- KMT2A-MLLT10 Fusion Protein Expression [NCIt concept]
- MLL Gene Mutation [NCIt concept]
- MLLT3-KMT2A Fusion Protein Expression [NCIt concept]
- TET1-KMT2A Fusion Protein Expression [NCIt concept]
- V-MLL Fusion Protein Expression [NCIt concept]
- t(10;11)(p11.2;q23) [NCIt concept]
- t(10;11)(p11;q23) [NCIt concept]
- t(10;11)(p12.1;q23.3) [NCIt concept]
- t(10;11)(p12.3;q23.3) [NCIt concept]
- t(10;11)(p12;q23) [NCIt concept]
- t(10;11)(q21.3;q23.3) [NCIt concept]
- t(11;17)(q23;q12-21) [NCIt concept]
- t(11;19)(q23.3;p13.1) [NCIt concept]
- t(11;19)(q23.3;p13.3) [NCIt concept]
- t(11;19)(q23;p13) [NCIt concept]
- t(1;11)(q21;q23) [NCIt concept]
- t(4;11)(q21;q23.3) [NCIt concept]
- t(6;11)(q27;q23) [NCIt concept]
- t(9;11)(p21.3;q23.3) [NCIt concept]
- t(9;11)(q21;q23) [NCIt concept]
- t(v;11q23.3) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with KMT2A Rearrangement [NCIt concept]
- Acute Myelomonocytic Leukemia without Abnormal Eosinophils [NCIt concept]
- B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged [NCIt concept]
- Infant Acute Lymphoblastic Leukemia with KMT2A Rearrangement [NCIt concept]
- Mixed Phenotype Acute Leukemia with KMT2A Rearrangement [NCIt concept]
gene_mapped_to_disease
- Acute Myeloid Leukemia with KMT2A Rearrangement [NCIt concept]
- Acute Myeloid Leukemia with a Variant KMT2A Rearrangement [NCIt concept]
- Acute Myeloid Leukemia with t(10;11)(p12.3;q23.3); MLLT10-KMT2A [NCIt concept]
- Acute Myeloid Leukemia with t(10;11)(q21.3;q23.3); TET1-KMT2A [NCIt concept]
- Acute Myeloid Leukemia with t(11;19)(q23.3;p13.1); KMT2A-ELL [NCIt concept]
- Acute Myeloid Leukemia with t(11;19)(q23.3;p13.3); KMT2A-MLLT1 [NCIt concept]
- Acute Myeloid Leukemia with t(4;11)(q21.3;q23.3); AFF1-KMT2A [NCIt concept]
- Acute Myeloid Leukemia with t(6;11)(q27;q23.3); MLLT4-KMT2A [NCIt concept]
- Acute Myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A [NCIt concept]
- Acute Myelomonocytic Leukemia without Abnormal Eosinophils [NCIt concept]
- Adult Acute Myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A [NCIt concept]
- B Acute Lymphoblastic Leukemia with t(4;11)(q21;23.3); KMT2A-AFF1 [NCIt concept]
- B Acute Lymphoblastic Leukemia with t(v;11q23.3); KMT2A Rearranged [NCIt concept]
- B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged [NCIt concept]
- Childhood Acute Myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A [NCIt concept]
- Infant Acute Lymphoblastic Leukemia with KMT2A Rearrangement [NCIt concept]
- Mixed Phenotype Acute Leukemia with KMT2A Rearrangement [NCIt concept]
- Recurrent Acute Myeloid Leukemia with KMT2A Rearrangement [NCIt concept]
- Recurrent Acute Myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A [NCIt concept]
gene_plays_role_in_process
- Hematopoietic Process [NCIt concept]
- Histone Methylation [NCIt concept]
- Methylation [NCIt concept]
- Transcriptional Regulation [NCIt concept]
genetic_biomarker_related_to
- CDK6/MLL Fusion Gene [NCIt concept]
- CDK6/MLL Fusion Protein [NCIt concept]
- Cells with KMT2A Gene Rearrangements/Cells Counted in Blood or Tissue by FISH [NCIt concept]
- KMT2A Fusion Positive [NCIt concept]
- KMT2A Gene Alteration Positive [NCIt concept]
- KMT2A Gene Rearrangements [Interpretation] in Blood or Tissue by FISH Narrative [NCIt concept]
- KMT2A Gene Rearrangements [Presence] in Blood or Tissue by FISH [NCIt concept]
- KMT2A Partial Tandem Duplication [NCIt concept]
- KMT2A/MLLT3 Fusion Gene [NCIt concept]
- KMT2A/MLLT6 Fusion Gene [NCIt concept]
- KMT2A/MLLT6 Fusion Protein [NCIt concept]
- KMT2A/TET1 Fusion Gene [NCIt concept]
- KMT2A/TET1 Fusion Protein [NCIt concept]
- LASP1/MLL Fusion Gene [NCIt concept]
- LASP1/MLL Fusion Protein [NCIt concept]
- LPP/MLL Fusion Gene [NCIt concept]
- LPP/MLL Fusion Protein [NCIt concept]
- MLL Positive [NCIt concept]
- MLL/ABI1 Fusion Gene [NCIt concept]
- MLL/ABI1 Fusion Protein [NCIt concept]
- MLL/AFF1 Fusion Gene [NCIt concept]
- MLL/AFF1 Fusion Protein [NCIt concept]
- MLL/AFF3 Fusion Gene [NCIt concept]
- MLL/AFF3 Fusion Protein [NCIt concept]
- MLL/ARHGAP26 Fusion Gene [NCIt concept]
- MLL/ARHGAP26 Fusion Protein [NCIt concept]
- MLL/ARHGEF12 Fusion Gene [NCIt concept]
- MLL/ARHGEF12 Fusion Protein [NCIt concept]
- MLL/CASC5 Fusion Gene [NCIt concept]
- MLL/CASC5 Fusion Protein [NCIt concept]
- MLL/CBL Fusion Gene [NCIt concept]
- MLL/CBL Fusion Protein [NCIt concept]
- MLL/ELL Fusion Gene [NCIt concept]
- MLL/ELL Fusion Protein [NCIt concept]
- MLL/FNBP1 Fusion Gene [NCIt concept]
- MLL/FNBP1 Fusion Protein [NCIt concept]
- MLL/GMPS Fusion Gene [NCIt concept]
- MLL/GMPS Fusion Protein [NCIt concept]
- MLL/GPHN Fusion Gene [NCIt concept]
- MLL/GPHN Fusion Protein [NCIt concept]
- MLL/LASP1 Fusion Gene [NCIt concept]
- MLL/LASP1 Fusion Protein [NCIt concept]
- MLL/LPP Fusion Gene [NCIt concept]
- MLL/LPP Fusion Protein [NCIt concept]
- MLL/MAML2 Fusion Gene [NCIt concept]
- MLL/MAML2 Fusion Protein [NCIt concept]
- MLL/MLLT1 Fusion Gene [NCIt concept]
- MLL/MLLT1 Fusion Protein [NCIt concept]
- MLL/MLLT10 Fusion Gene [NCIt concept]
- MLL/MLLT10 Fusion Protein [NCIt concept]
- MLL/MLLT11 Fusion Gene [NCIt concept]
- MLL/MLLT11 Fusion Protein [NCIt concept]
- MLL/MLLT3 Fusion Protein [NCIt concept]
- MLL/MLLT4 Fusion Gene [NCIt concept]
- MLL/MLLT4 Fusion Protein [NCIt concept]
- MLL/SARNP Fusion Gene [NCIt concept]
- MLL/SARNP Fusion Protein [NCIt concept]
- MLL/SEPT5 Fusion Gene [NCIt concept]
- MLL/SEPT5 Fusion Protein [NCIt concept]
- MLL/SEPT6 Fusion Gene [NCIt concept]
- MLL/SEPT6 Fusion Protein [NCIt concept]
- MLL/SH3GL1 Fusion Gene [NCIt concept]
- MLL/SH3GL1 Fusion Protein [NCIt concept]

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