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Advanced Download Gene List
  • PNP
    • Purine Nucleoside Phosphorylase Deficiency
  • LIPA
    • Lysosomal Acid Lipase Deficiency
  • ABHD5
    • Neutral Lipid Storage Disease
  • MAGEL2
    • Prader–willi Syndrome
  • NR5A1
    • Xy Gonadal Dysgenesis
    • Gonadotropin-Resistant Ovary Syndrome
  • WT1
    • Xy Gonadal Dysgenesis
    • Gonadotropin-Resistant Ovary Syndrome
    • Down Syndrome
  • UBE3B
    • Kaufman Oculocerebrofacial Syndrome
  • SSX1
    • Synovial Sarcoma
  • SSX2
    • Synovial Sarcoma
  • SNRPN
    • Prader–willi Syndrome
  • ATXN3
    • Machado–joseph Disease
  • SS18
    • Synovial Sarcoma
  • SRY
    • Xy Gonadal Dysgenesis
    • Down Syndrome
  • PLN
    • Cardiomyopathy, Familial Hypertrophic, 18
  • HLA-B
    • Severe Acute Respiratory Syndrome
    • Ankylosing Spondylitis
    • Down Syndrome
  • NDN
    • Prader–willi Syndrome
  • IL23R
    • Ankylosing Spondylitis
    • Salmonellosis
  • ANTXR2
    • Ankylosing Spondylitis
  • ERAP1
    • Ankylosing Spondylitis
  • SOX9
    • Xy Gonadal Dysgenesis

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