PIGA wt Allele

Preferred Label : PIGA wt Allele;

NCIt synonyms : PIG-A; GPI3; Paroxysmal Nocturnal Hemoglobinuria Gene; Phosphatidylinositol Glycan, Class A (Paroxysmal Nocturnal Hemoglobinuria) Gene; Phosphatidylinositol Glycan Anchor Biosynthesis Class A wt Allele; Phosphatidylinositol Glycan Anchor Biosynthesis, Class A Gene; MCAHS2; PNH1;

NCIt definition : Human PIGA wild-type allele is located in the vicinity of Xp22.1 and is approximately 16 kb in length. This allele, which encodes phosphatidylinositol N-acetylglucosaminyltransferase subunit A protein, plays a role in the modulation of protein lipidation. Mutation of the gene is associated with paroxysmal nocturnal hemoglobinuria.;

GenBank Accession Number : BC038236;

Détails

Origin ID

C95926;

UMLS CUI

C3272444;

Automatic exact mappings (from CISMeF team)
- Multiple congenital anomalies, hypotonia, seizures syndrome type 2 (disorder) [SNOMED CT concept]
- Paroxysmal nocturnal hemoglobinuria [ORDO Disease]
- Paroxysmal nocturnal hemoglobinuria 1 [OMIM Phenotype]
- Phosphatidylinositol glycan anchor biosynthesis class a protein [OMIM gene]
- hemoglobinuria, paroxysmal [MeSH Descriptor]
- phosphatidylinositol glycan anchor biosynthesis class A [ORDO Gene]
OMIM relation
- Phosphatidylinositol glycan anchor biosynthesis class a protein [OMIM gene]
See also inter- (CISMeF)
- Multiple congenital anomalies-hypotonia-seizures syndrome 2 [OMIM Phenotype]
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
- Xp22.1 [NCIt concept]
gene_is_element_in_pathway
- Glycosylphosphatidylinositol-Anchor Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Glycosylation [NCIt concept]
- Protein Glycosylation [NCIt concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients