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Advanced Download Gene List
  • ASL
    • Argininosuccinic Aciduria
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • PMM2
    • Pmm2 Deficiency
  • SLC12A6
    • Andermann Syndrome
  • SLC17A5
    • Salla Disease
  • MED12
    • Fg Syndrome
  • GNAQ
    • Erdheim–chester Disease
    • Sturge–weber Syndrome
  • ABCC9
    • Cantú Syndrome
  • PQBP1
    • Renpenning's Syndrome
  • UMOD
    • Medullary Cystic Kidney Disease
  • FAM20A
    • Enamel-Renal Syndrome
  • UBE3B
    • Kaufman Oculocerebrofacial Syndrome
  • UBA1
    • X-Linked Spinal Muscular Atrophy Type 2
  • KCNJ8
    • Cantú Syndrome
    • Enamel-Renal Syndrome
  • IFIH1
    • Singleton Merten Syndrome
  • ACTG2
    • Berdon Syndrome
    • Bronchopulmonary Dysplasia
  • FLNA
    • Intestinal Neuronal Dysplasia
    • Fg Syndrome
    • Bronchopulmonary Dysplasia
  • RASA1
    • Sturge–weber Syndrome
  • ASS1
    • Argininosuccinic Aciduria
    • Citrullinemia Type I
  • MYH11
    • Berdon Syndrome

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