About: ARX wt Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • ARX wt Allele
rdfs:subClassOf
OMIM_Number
  • 300382
GenBank_Accession_Number
  • AY038071
Semantic_Type
  • Gene or Genome
Preferred_Name
  • ARX wt Allele
UMLS_CUI
  • C2699121
EntrezGene_ID
  • 170302
Legacy_Concept_Name
  • ARX_wt_Allele
HGNC_ID
  • HGNC:18060
FULL_SYN
  • ARX wt AllelePTNCI
  • ISSXSYNCI
  • PRTSSYNCI
  • Aristaless Related Homeobox wt AlleleSYNCI
  • MRX32SYNCI
  • MRX33SYNCI
  • MRX43SYNCI
  • MRX36SYNCI
  • MRX54SYNCI
  • MRX29SYNCI
  • MRX38SYNCI
  • MRX76SYNCI
  • MRX87SYNCI
  • MRXS1SYNCI
DEFINITION
  • Human ARX wild-type allele is located in the vicinity of Xp21 and is approximately 12 kb in length. This allele, which encodes homeobox protein ARX, is involved in both the modulation of transcription and brain development. Mutations in the gene are associated with multiple congenital central nervous system disorders.NCI
DesignNote
  • Mutations in the ARX gene are associated with lissencephaly X-linked type 2, X-linked infantile spasm syndrome, myoclonic epilepsy X-linked with intellectual disability and spasticity, Partington syndrome, non-syndromic mental retardation X-linked type 54, and agenesis of corpus callosum with abnormal genitalia. (UniProt)
code
  • C74969
Faceted Search & Find service v1.16.118 as of Jun 21 2024


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 78 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software