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Advanced Download Gene List
  • ASL
    • Argininosuccinic Aciduria
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • PMM2
    • Pmm2 Deficiency
  • ABCC9
    • Cantú Syndrome
  • PQBP1
    • Renpenning's Syndrome
  • IFIH1
    • Singleton Merten Syndrome
  • KCNJ8
    • Cantú Syndrome
  • LIPA
    • Acid Lipase Disease
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
  • CST3
    • Cerebral Amyloid Angiopathy
  • KDM3B
    • Metal Toxicity
  • DDX58
    • Singleton Merten Syndrome
  • FH
    • Fumarase Deficiency
  • APOB
    • Familial Isolated Vitamin E Deficiency
  • APOA1
    • Familial Isolated Vitamin E Deficiency
  • ITM2B
    • Cerebral Amyloid Angiopathy
  • NDP
    • Vascular Tumor
    • Uterine Rupture
  • DICER1
    • Pinealoblastoma
  • PHOX2B
    • Pinealoblastoma
    • Hyperhidrosis
  • FOXP1
    • Hyperhidrosis
    • Vascular Malformation

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