• https://identifiers.org/ensembl/ENSG00000101400
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000067560
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000070831
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000136238
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000198947
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/wikipathways/WP254
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000040608
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000056558
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000105695
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000115310
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000027001
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000102683
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000124788
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000127863
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000151835
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000163069
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000169783
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000170624
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000182957
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000205863
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000227893
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000229483
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000232977
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000240654
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000252695
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/wikipathways/WP5406
  • http://purl.org/pav/hasVersion
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000082512
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000127191
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000131323
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/chebi/CHEBI:17552
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000050748
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000107643
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000181092
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000128591
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• http://rdf.wikipathways.org/Pathway/WP5406_r134533/Complex/a1e44
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• http://rdf.wikipathways.org/Pathway/WP5406_r134533/ComplexBinding/a1e44
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• http://rdf.wikipathways.org/Pathway/WP5406_r134533/WP/Interaction/b42ac
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• http://rdf.wikipathways.org/Pathway/WP5406_r134533/WP/Interaction/cd286
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• http://rdf.wikipathways.org/Pathway/WP5406_r134533/WP/Interaction/ef88a
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• http://rdf.wikipathways.org/Pathway/WP5406_r134533/WP/Interaction/id2233ab1
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• http://rdf.wikipathways.org/Pathway/WP5406_r134533/WP/Interaction/id6a9cc133
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• http://rdf.wikipathways.org/Pathway/WP5406_r134533/WP/Interaction/ida00b2bd2
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• http://rdf.wikipathways.org/Pathway/WP5406_r134533/WP/Interaction/idc1cb0417
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• http://rdf.wikipathways.org/Pathway/WP5406_r134533/WP/Interaction/idc25da1aa
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• http://rdf.wikipathways.org/Pathway/WP5406_r134533/WP/Interaction/idd99f0e0a
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• http://rdf.wikipathways.org/Pathway/WP5406_r134533/WP/Interaction/idf4f32f26
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/wikipathways/WP5406_r134533
  • http://www.w3.org/1999/02/22-rdf-syntax-ns#type
    • http://www.w3.org/2004/02/skos/core#Collection
    • http://vocabularies.wikipathways.org/wp#Pathway
  • http://vocabularies.wikipathways.org/wp#diseaseOntologyTag
    • http://purl.obolibrary.org/obo/DOID_0060388
    • http://purl.obolibrary.org/obo/DOID_0060429
  • http://vocabularies.wikipathways.org/wp#isAbout
    • http://rdf.wikipathways.org/Pathway/WP5406_r134533
  • http://vocabularies.wikipathways.org/wp#ontologyTag
    • http://purl.obolibrary.org/obo/DOID_0060429
    • http://vocabularies.wikipathways.org/wp#Curation:AnalysisCollection
    • http://purl.obolibrary.org/obo/DOID_0060388
    • http://vocabularies.wikipathways.org/wp#Curation:RareDiseases
    • http://vocabularies.wikipathways.org/wp#Curation:ONTOX
    • http://purl.obolibrary.org/obo/PW_0000013
  • http://vocabularies.wikipathways.org/wp#organism
    • http://purl.obolibrary.org/obo/NCBITaxon_9606
  • http://vocabularies.wikipathways.org/wp#organismName
    • Homo sapiens
  • http://vocabularies.wikipathways.org/wp#pathwayOntologyTag
    • http://purl.obolibrary.org/obo/PW_0000013
  • http://xmlns.com/foaf/0.1/img
    • https://www.wikipathways.org//wpi/wpi.php?action=downloadFile&type=svg&pwTitle=Pathway:WP5406&oldid=134533
    • https://www.wikipathways.org//wpi/wpi.php?action=downloadFile&type=png&pwTitle=Pathway:WP5406&oldid=134533
  • http://xmlns.com/foaf/0.1/page
    • http://www.wikipathways.org/instance/WP5406_r134533
  • http://purl.org/dc/elements/1.1/identifier
    • https://identifiers.org/wikipathways/WP5406
  • http://purl.org/dc/elements/1.1/source
    • WikiPathways
  • http://purl.org/dc/elements/1.1/title
    • 13q12.12 copy number variation
  • http://purl.org/dc/terms/description
    • Copy number variations in the region 13q12.12 (exact position: chr13:23555358-24884622 (GRCh37), numbers from Kirov et al. 2014 10.1016/j.biopsych.2013.07.022 and literature cited there) are rare, pathological mutations in the human genome. It is a risk variation for neuropsychiatric diseases like schizophrenia (Kirov et al. 2014, 10.1016/j.biopsych.2013.07.022) and with the presence of SACS it harbors a gene known for causing Spastic ataxia (MIM # 270550).
  • http://purl.org/dc/terms/identifier
    • WP5406
  • http://purl.org/spar/cito/cites
    • https://identifiers.org/pubmed/10629222
    • https://identifiers.org/pubmed/19208651
    • https://identifiers.org/pubmed/19666007
    • https://identifiers.org/pubmed/17145773
    • https://identifiers.org/pubmed/17599059
• https://identifiers.org/ensembl/ENSG00000108823
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000123096
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000134769
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000172164
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533
• https://identifiers.org/ensembl/ENSG00000173402
  • http://purl.org/dc/terms/isPartOf
    • https://identifiers.org/wikipathways/WP5406_r134533