Lysine-specific methyltransferase 2d

Preferred Label : Lysine-specific methyltransferase 2d;

Symbol : KMT2D;

CISMeF acronym : KMT2D;

Type : Gene;

Alternative titles and symbols : Myeloid/lymphoid or mixed lineage leukemia 2; Myeloid/lymphoid or mixed lineage leukemia 4; All1-related gene; MLL2; MLL4; ALR;

Ensembl ID : ENSG00000167548;

Prefixed ID : *602113;

Détails

Origin ID

602113;

UMLS CUI

C1334512;

Automatic exact mappings (from CISMeF team)
- AKR1A1 wt Allele [NCIt concept]
- ALR Mouse [NCIt concept]
- Histone-Lysine N-Methyltransferase 2B [NCIt concept]
- Histone-Lysine N-Methyltransferase 2D [NCIt concept]
- KMT2B wt Allele [NCIt concept]
- KMT2D Gene [NCIt concept]
- KMT2D wt Allele [NCIt concept]
- growth factor, augmenter of liver regeneration [ORDO Gene]
- lysine methyltransferase 2D [ORDO Gene]
- lysine methyltransferase 2D [HGNC gene]
HGNC gene
- lysine methyltransferase 2D [HGNC gene]
NCIt concept(s)
- Histone-Lysine N-Methyltransferase 2D [NCIt concept]
- KMT2D Gene [NCIt concept]
- KMT2D wt Allele [NCIt concept]
ORDO concept(s)
- lysine methyltransferase 2D [ORDO Gene]
Phenotypes related
- Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome [OMIM Phenotype]
- Kabuki syndrome 1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- KMT2D Gene [NCIt concept]
- lysine methyltransferase 2D [HGNC gene]

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