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Advanced Download Gene List
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
    • Retinoblastoma
  • ASL
    • Argininosuccinic Aciduria
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • SMAD4
    • Retinoblastoma
    • Juvenile Polyposis Syndrome
  • PMM2
    • Pmm2 Deficiency
  • BMPR1A
    • Juvenile Polyposis Syndrome
  • F12
    • Factor Xii Deficiency
  • SLC12A6
    • Andermann Syndrome
  • PQBP1
    • Renpenning's Syndrome
  • MED12
    • Fg Syndrome
  • SLC17A5
    • Salla Disease
  • FAM20A
    • Enamel-Renal Syndrome
  • UMOD
    • Medullary Cystic Kidney Disease
  • NGLY1
    • Ngly1 Deficiency
  • UBE3B
    • Kaufman Oculocerebrofacial Syndrome
  • LMNA
    • Limb–girdle Muscular Dystrophy
    • Retinoblastoma
  • IFIH1
    • Singleton Merten Syndrome
  • ACTG2
    • Berdon Syndrome
  • GNE
    • Limb–girdle Muscular Dystrophy
    • Salla Disease
  • ENG
    • Juvenile Polyposis Syndrome

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