LDHA wt Allele

Preferred Label : LDHA wt Allele;

NCIt synonyms : PIG19; GSD11; LDHM; Lactate Dehydrogenase A wt Allele; LDH1; LDH, Subunit M Gene; Proliferation-Inducing Gene 19;

NCIt definition : Human LDHA wild-type allele is located in the vicinity of 11p15.4 and is approximately 14 kb in length. This allele, which encodes L-lactate dehydrogenase A chain protein, plays a role in fermentation. Mutation of the gene is associated with glycogen storage disease 11.;

GenBank Accession Number : X02152;

Details

Origin ID

C106207;

UMLS CUI

C3814416;

Automatic exact mappings (from CISMeF team)
- Glycogen storage disease XI [OMIM Phenotype]
- Lactate dehydrogenase 1 [LOINC component]
- Lactic acid dehydrogenase isoenzyme 1 (substance) [SNOMED CT concept]
- lactate dehydrogenase 1 [MeSH Supplementary Concept]
- lactate dehydrogenase deficiency type A [MeSH Supplementary Concept]
OMIM relation
- Lactate dehydrogenase a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11p15.4 [NCIt concept]
gene_is_element_in_pathway
- Cysteine and Methionine Metabolism Pathway [NCIt concept]
- Glycolysis/Gluconeogenesis Pathway [NCIt concept]
- HIF-1-Alpha Transcription Factor Pathway [NCIt concept]
- Hypoxia-Inducible Factor Pathway [NCIt concept]
- Propanoate Metabolism Pathway [NCIt concept]
- Pyruvate Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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