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List of intellectual disability related genes

PDE6A - phosphodiesterase 6A

  • Synonym(s) : retinitis pigmentosa type 43, Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha, RP43
  • Previous symbols and names : PDEA, phosphodiesterase 6A, cGMP-specific, rod, alpha
  • Type : gene with protein product
  • Chromosomal location : 5q32
  • OMIM: 180071
  • HGNC: 8785
  • UniProtKB: P16499
  • Genatlas: PDE6A
  • GenCC: PDE6A
  • Ensembl: ENSG00000132915
  • IUPHAR-DB: 1312
  • Reactome: P16499
  • LOVD: PDE6A

Diseases list

  : Assessed

Additional information

Patient-centred resources for this gene

Research activities on this gene

Specialised Social Services

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