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Advanced Download Gene List
  • TP53
    • Disseminated Superficial Actinic Porokeratosis
    • Li–fraumeni Syndrome
    • Alopecia, Androgenetic, 1
    • Shwachman–diamond Syndrome
  • ABHD5
    • Cerebral Creatine Deficiency
  • PYGM
    • Glycogen Storage Disease Type V
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • SBDS
    • Shwachman–diamond Syndrome
  • GAMT
    • Guanidinoacetate Methyltransferase Deficiency
  • SIX1
    • Branchio-Oto-Renal Syndrome
  • PQBP1
    • Hypospadias
    • Renpenning's Syndrome
  • EYA1
    • Branchio-Oto-Renal Syndrome
    • Hypospadias
  • COL2A1
    • Collagen, Type Ii, Alpha-1
  • ASS1
    • Citrullinemia Type I
  • FAM20A
    • Enamel-Renal Syndrome
  • DNAAF3
    • Primary Ciliary Dyskinesia
  • DRC1
    • Primary Ciliary Dyskinesia
  • CHEK2
    • Li–fraumeni Syndrome
  • IFIH1
    • Singleton Merten Syndrome
  • AR
    • Li–fraumeni Syndrome
    • Alopecia, Androgenetic, 1
    • Hypospadias
  • LIPA
    • Acid Lipase Disease
  • DNAI1
    • Primary Ciliary Dyskinesia
  • CCDC151
    • Primary Ciliary Dyskinesia

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