PropertyValue
?:definition
  • Human APOA1 wild-type allele is located within 11q23-q24 and is approximately 2 kb in length. This allele, which encodes apolipoprotein A-I protein, plays a role in cholesterol metabolism and transport. Mutation of the gene is associated with several types of amyloidosis, APOA1 deficiency, hypoalphalipoproteinemia, autosomal recessive corneal clouding, and high density lipoprotein deficiency types 1 (recessive) and 2 (autosomal dominant). Fusion of this gene with the neighboring APOC3 gene is associated with combined apoA-I and apoC-III deficiency.
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
<http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/net/provenance/ns#DataItem>
<http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://www.w3.org/2004/03/trix/rdfg-1/Graph>
<http://xmlns.com/foaf/0.1/primaryTopic> <https://research.tib.eu/covid-19/entity/C3900166_NCI>
<http://xmlns.com/foaf/0.1/topic> Anon_0
<http://www.ontologydesignpatterns.org/cp/owl/informationrealization.owl#realizes> <https://research.tib.eu/covid-19/data/entity/C3900166_NCI>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all