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Advanced Download Gene List
  • PRNP
    • Variant Creutzfeldt–jakob Disease
    • Kuru, Susceptibility To
    • Akinetic Mutism
  • TTR
    • Hereditary Transthyretin Amyloidosis
    • Fabry Disease
  • GLA
    • Fabry Disease
  • PORCN
    • Focal Dermal Hypoplasia
  • SALL4
    • Duane-Radial Ray Syndrome
  • CREBBP
    • Rubinstein-Taybi Syndrome
  • WNT5A
    • Ror2-Related Robinow Syndrome
  • SLC4A1
    • Southeast Asian Ovalocytosis
  • SKI
    • Shprintzen-Goldberg Syndrome
  • TTN
    • Salih Myopathy
  • TEK
    • Multiple Cutaneous And Mucosal Venous Malformations
  • ENPP1
    • Generalized Arterial Calcification Of Infancy
  • COL4A3
    • Alport Syndrome
  • COL4A5
    • Alport Syndrome
  • FBN1
    • Shprintzen-Goldberg Syndrome
    • Hereditary Transthyretin Amyloidosis
    • Aneurysm
  • AGGF1
    • Klippel-Trenaunay-Weber Syndrome
  • LIPA
    • Lysosomal Acid Lipase Deficiency
  • EP300
    • Rubinstein-Taybi Syndrome
  • ABCC6
    • Generalized Arterial Calcification Of Infancy
  • DVL3
    • Ror2-Related Robinow Syndrome

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