About: PMP22 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
  • PMP22 wt Allele
rdfs:subClassOf
OMIM_Number
  • 601097
GenBank_Accession_Number
  • D11428
Semantic_Type
  • Gene or Genome
Preferred_Name
  • PMP22 wt Allele
UMLS_CUI
  • C2698698
EntrezGene_ID
  • 5376
Legacy_Concept_Name
  • PMP22_wt_Allele
HGNC_ID
  • HGNC:9118
FULL_SYN
  • DSSSYNCI
  • PMP22 wt AllelePTNCI
  • HNPPSYNCI
  • GAS-3SYNCI
  • CMT1ASYNCI
  • Sp110SYNCI
  • CMT1ESYNCI
  • Peripheral Myelin Protein 22 wt AlleleSYNCI
  • HMSNIASYNCI
  • MGC20769SYNCI
DEFINITION
  • Human PMP22 wild-type allele is located within 17p12-p11.2 and is approximately 36 kb in length. This allele, which encodes peripheral myelin protein 22, plays a role in the modulation of the structure of myelin. Mutation of the gene is associated with Charcot-Marie-Tooth disease Types IA and IE, Dejerine-Sottas syndrome, inflammatory demyelinating polyneuropathy and hereditary neuropathy with liability to pressure palsies.NCIUniProt
code
  • C75901
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, 52 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software