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Advanced Download Gene List
  • FOXL2
    • Blepharophimosis, Ptosis, And Epicanthus Inversus
  • HMBS
    • Acute Intermittent Porphyria
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • FMR1
    • Renpenning's Syndrome
    • Fragile X-Associated Tremor/ataxia Syndrome
    • Fg Syndrome
  • PQBP1
    • Renpenning's Syndrome
  • IFIH1
    • Singleton Merten Syndrome
    • Glaucoma 3, Primary Congenital, A
  • MED12
    • Fg Syndrome
  • FAM20A
    • Enamel-Renal Syndrome
  • UBE3B
    • Kaufman Oculocerebrofacial Syndrome
  • FLNA
    • Glaucoma 3, Primary Congenital, A
    • Intestinal Neuronal Dysplasia
    • Fg Syndrome
  • ACTG2
    • Berdon Syndrome
  • DMPK
    • Myotonic Dystrophy
  • ASS1
    • Citrullinemia Type I
  • MYH11
    • Berdon Syndrome
  • MYLK
    • Berdon Syndrome
  • CYP1B1
    • Glaucoma 3, Primary Congenital, A
  • CTNS
    • Cystinosis
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
  • MYOC
    • Glaucoma 3, Primary Congenital, A
  • SAA1
    • Aa Amyloidosis

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