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Advanced Download Gene List
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • COL2A1
    • Collagen, Type Ii, Alpha-1
  • CLCN1
    • Myotonia Congenita, Autosomal Recessive
  • SLC4A1
    • Southeast Asian Ovalocytosis
  • GBA
    • Gaucher Disease, Type Iii
  • PQBP1
    • Renpenning's Syndrome
  • IFIH1
    • Singleton Merten Syndrome
  • PRNP
    • Akinetic Mutism
    • Kuru (Disease)
  • SRD5A2
    • 5α-Reductase Deficiency
  • PAH
    • Phenylketonuria
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
  • AP3D1
    • Albinism
  • TYR
    • Albinism
  • SCN4A
    • Myotonia Congenita, Autosomal Recessive
  • DDX58
    • Singleton Merten Syndrome
  • MITF
    • Albinism
  • SNCA
    • Gaucher Disease, Type Iii
  • CHIT1
    • Gaucher Disease, Type Iii
  • ACE
    • Gaucher Disease, Type Iii
  • LYST
    • Albinism

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