IDUA wt Allele

Preferred Label : IDUA wt Allele;

NCIt synonyms : Iduronidase, Alpha-L Gene; MPS1; MPSI; IDA; Iduronidase Alpha-L- Gene; Mucopolysaccharidosis Type I Gene; Alpha-L-Iduronidase wt Allele; Iduronidase, Alpha-L- Gene;

NCIt definition : Human IDUA wild-type allele is located in the vicinity of 4p16.3 and is approximately 18 kb in length. This allele, which encodes alpha-L-iduronidase protein, is involved in the metabolism of glycosaminoglycans. Mutation of the gene is associated with mucopolysaccharidosis type 1.;

GenBank Accession Number : M74715;

Details

Origin ID

C115254;

UMLS CUI

C3889248;

Automatic exact mappings (from CISMeF team)
- Malignant migrating focal seizures of infancy [ORDO Disease]
- Mucopolysaccharidosis type 1 [ORDO Disease]
- Mucopolysaccharidosis type 1 [ICD-11 Sub-sub category]
- Mucopolysaccharidosis type 1S [ICD-11 More detail]
- Ribosomal protein s27 [OMIM gene]
- Scheie syndrome [ORDO Disease]
- Ttk protein kinase [OMIM gene]
- alpha-L-iduronidase [ORDO Gene]
- mucopolysaccharidosis I [MeSH Descriptor]
- ribosomal protein S27 [ORDO Gene]
OMIM relation
- Alpha-L-iduronidase [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
- 4p16.3 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Mucopolysaccharidosis Type I [NCIt concept]
gene_is_element_in_pathway
- Glycosaminoglycan Degradation Pathway [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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