ABHD12 wt Allele

Preferred Label : ABHD12 wt Allele;

NCIt synonyms : Chromosome 20 Open Reading Frame 22 Gene; BEM46L2; dJ965G21.2; PHARC; Abhydrolase Domain Containing 12 wt Allele; C20orf22; ABHD12A; DKFZP434P106; RP5-965G21.2;

NCIt definition : Human ABHD12 wild-type allele is located in the vicinity of 20p11.21 and is approximately 96 kb in length. This allele, which encodes monoacylglycerol lipase ABHD12 protein, is involved in endocannabinoid catabolism. Mutation of the gene is associated with the neurological disorder, polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.;

GenBank Accession Number : AL117442;

Details

Origin ID

C118546;

UMLS CUI

C3890226;

Automatic exact mappings (from CISMeF team)
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [OMIM Phenotype]
- abhydrolase domain containing 12, lysophospholipase [ORDO Gene]
OMIM relation
- Abhydrolase domain-containing protein 12, lysophospholipase [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_plays_role_in_process
- Drug Metabolism Induction [NCIt concept]
- Hydrolysis [NCIt concept]
- Lipid Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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