ALDH2 Gene - CISMeF

Preferred Label : ALDH2 Gene;

NCIt synonyms : Aldehyde Dehydrogenase 2 Family Member Gene;

NCIt related terms : ALDH2;

CISMeF acronym : ALDH2;

NCIt definition : This gene plays a role in intermediary metabolism.;

Détails

Origin ID

C84921;

UMLS CUI

C1412335;

Currated CISMeF NLP mapping
- Aldehyde dehydrogenase 2 family [OMIM Phenotype]
HGNC gene
- aldehyde dehydrogenase 2 family member [HGNC gene]
OMIM relation
- Aldehyde dehydrogenase 2 family [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Aldehyde dehydrogenase 2 family [OMIM Phenotype]
- aldehyde dehydrogenase 2 family member [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
- Aldehyde Dehydrogenase, Mitochondrial [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- ALDH2 Gene Mutation [NCIt concept]
- ALDH2 NM_000690.4:c.1510G>A [NCIt concept]
- ALDH2 NP_000681.2:p.E504K [NCIt concept]
- ALDH2 Protein Variant [NCIt concept]
gene_mapped_to_disease
- AMeD Syndrome [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
genetic_biomarker_related_to
- ALDH2 Gene Mutation Negative [NCIt concept]
- ALDH2*1/*2 Genotype Positive [NCIt concept]
- HMGA2/ALDH2 Fusion Gene [NCIt concept]
- HMGA2/ALDH2 Fusion Protein [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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