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List of intellectual disability related genes

OBSL1 - obscurin like cytoskeletal adaptor 1

  • Synonym(s) : KIAA0657
  • Previous symbols and names : obscurin like 1
  • Type : gene with protein product
  • Chromosomal location : 2q35
  • OMIM: 610991
  • HGNC: 29092
  • UniProtKB: O75147
  • Genatlas: OBSL1
  • GenCC: OBSL1
  • Ensembl: ENSG00000124006
  • IUPHAR-DB: -
  • Reactome: O75147
  • LOVD: OBSL1

Diseases list

  • Disease-causing germline mutation(s) in 3M syndrome ORPHA:2616
  : Assessed

Additional information

Patient-centred resources for this gene

Research activities on this gene

Specialised Social Services

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