MECP2 Gene - CISMeF

Preferred Label : MECP2 Gene;

NCIt synonyms : Methyl CpG Binding Protein 2 (Rett Syndrome) Gene;

NCIt related terms : MECP2;

CISMeF acronym : MECP2;

NCIt definition : This gene plays a role in both the recognition of DNA methylation and the regulation of transcription.;

Details

Origin ID

C75727;

UMLS CUI

C1417098;

HGNC gene
- methyl-CpG binding protein 2 [HGNC gene]
OMIM relation
- Methyl-cpg-binding protein 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- MECP2 gene [LOINC component]
- Methyl-cpg-binding protein 2 [OMIM gene]
- methyl-CpG binding protein 2 [HGNC gene]
gene_encodes_gene_product
- Methyl-CpG-Binding Protein 2 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Lubs X-Linked Mental Retardation Syndrome [NCIt concept]
- Rett Syndrome [NCIt concept]
- Rett Syndrome, Congenital Variant [NCIt concept]
- Severe Neonatal Encephalopathy Due to MECP2 Mutations [NCIt concept]
gene_plays_role_in_process
- DNA Methylation Regulation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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