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Advanced Download Gene List
  • ASL
    • Argininosuccinic Aciduria
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • PMM2
    • Pmm2 Deficiency
  • FAM20A
    • Enamel-Renal Syndrome
  • MYH7
    • Laing Distal Myopathy
  • PQBP1
    • Renpenning's Syndrome
  • SLC26A2
    • Atelosteogenesis, Type Ii
  • RHBDF2
    • Howel–evans Syndrome
  • SHH
    • Holoprosencephaly
  • SIX3
    • Holoprosencephaly
  • TGIF1
    • Holoprosencephaly
  • GLI2
    • Holoprosencephaly
  • IFIH1
    • Singleton Merten Syndrome
  • NODAL
    • Holoprosencephaly
  • NRAS
    • Neurocutaneous Melanosis
  • IDH2
    • Oligodendroglioma
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
    • Holoprosencephaly
    • Oligodendroglioma
  • ZIC2
    • Holoprosencephaly
  • CDON
    • Holoprosencephaly
  • PTCH1
    • Holoprosencephaly

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