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Advanced Download Gene List
  • PAX6
    • Aniridia 2
  • ASL
    • Argininosuccinic Aciduria
  • PMM2
    • Pmm2 Deficiency
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • POLG
    • Balo Concentric Sclerosis
  • F12
    • Factor Xii Deficiency
  • SLC12A6
    • Andermann Syndrome
  • PQBP1
    • Renpenning's Syndrome
  • MED12
    • Fg Syndrome
  • FAM20A
    • Enamel-Renal Syndrome
  • SLC17A5
    • Salla Disease
  • NGLY1
    • Ngly1 Deficiency
  • UBE3B
    • Kaufman Oculocerebrofacial Syndrome
  • TRIM44
    • Aniridia 2
  • IFIH1
    • Singleton Merten Syndrome
  • ACTG2
    • Berdon Syndrome
  • FLNA
    • Intestinal Neuronal Dysplasia
    • Fg Syndrome
  • WT1
    • Aniridia 2
  • ASS1
    • Argininosuccinic Aciduria
    • Citrullinemia Type I
  • FOXC1
    • Aniridia 2

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