PropertyValue
?:definition
  • Human PLEKHG5 wild-type allele is located in the vicinity of 1p36.31 and is approximately 54 kb in length. This allele, which encodes pleckstrin homology domain-containing family G member 5 protein, is involved in the regulation of nuclear factor kappa B and transforming protein RhoA signaling pathways. Mutation of the gene is associated with recessive intermediate Charcot-Marie-Tooth disease type C and autosomal recessive distal spinal muscular atrophy.
?: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/C4723864_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/C4723864_NCI>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all