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Advanced Download Gene List
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • ATP7B
    • Wilson's Disease
  • SLC12A6
    • Andermann Syndrome
  • COL2A1
    • Collagen, Type Ii, Alpha-1
  • PQBP1
    • Renpenning's Syndrome
  • SLC17A5
    • Wilson's Disease
    • Salla Disease
  • MED12
    • Fg Syndrome
  • FAM20A
    • Enamel-Renal Syndrome
  • NGLY1
    • Ngly1 Deficiency
  • UBE3B
    • Kaufman Oculocerebrofacial Syndrome
  • GATA5
    • Congenital Heart Defects, Multiple Types, 5
  • IFIH1
    • Singleton Merten Syndrome
  • ACTG2
    • Berdon Syndrome
  • PAH
    • Phenylketonuria
    • Wilson's Disease
  • FLNA
    • Intestinal Neuronal Dysplasia
    • Fg Syndrome
  • DMPK
    • Myotonic Dystrophy
  • ASS1
    • Citrullinemia Type I
  • MYH11
    • Berdon Syndrome
  • MYLK
    • Berdon Syndrome
  • CTNS
    • Cystinosis

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