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Advanced Download Gene List
  • ASL
    • Argininosuccinic Aciduria
  • MEFV
    • Familial Mediterranean Fever, Autosomal Dominant
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • PMM2
    • Pmm2 Deficiency
  • SLC4A1
    • Ovalocytosis, Southeast Asian
  • SPINT2
    • Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
  • PQBP1
    • Renpenning's Syndrome
  • SLC9A3
    • Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
  • IFIH1
    • Singleton Merten Syndrome
  • PDZD7
    • Deafness, Autosomal Recessive 57
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
  • CST3
    • Cerebral Amyloid Angiopathy
  • GUCY2C
    • Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
  • DDX58
    • Singleton Merten Syndrome
  • KDM3B
    • Metal Toxicity
  • APOB
    • Familial Isolated Vitamin E Deficiency
  • APOA1
    • Familial Isolated Vitamin E Deficiency
  • NLRP3
    • Familial Mediterranean Fever, Autosomal Dominant
  • NF1
    • Neurofibromatosis
  • NF2
    • Neurofibromatosis

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