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Advanced Download Gene List
  • GALE
    • Galactose-1-Phosphate Uridylyltransferase Deficiency
    • Galactose Epimerase Deficiency
  • GALT
    • Galactose-1-Phosphate Uridylyltransferase Deficiency
    • Galactose Epimerase Deficiency
  • ABHD5
    • Cerebral Creatine Deficiency
  • RB1
    • Pinealoblastoma
    • Osteogenic Sarcoma
    • Trilateral Retinoblastoma
  • TP53
    • Alopecia, Androgenetic, 1
    • Myotonic Dystrophy
    • Osteogenic Sarcoma
    • Epidermodysplasia Verruciformis
  • FOXP3
    • Osteogenic Sarcoma
    • Ipex Syndrome
  • GAMT
    • Guanidinoacetate Methyltransferase Deficiency
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • EFHC1
    • Myoclonic Epilepsy, Juvenile, Susceptibility To, 3
  • SLC2A10
    • Arterial Tortuosity Syndrome
    • Aneurysm
  • PQBP1
    • Osteogenic Sarcoma
    • Renpenning's Syndrome
  • TMC6
    • Epidermodysplasia Verruciformis
  • FAM20A
    • Enamel-Renal Syndrome
  • PRPS1
    • Arts Syndrome
  • CHEK2
    • Osteogenic Sarcoma
  • GALK1
    • Galactose-1-Phosphate Uridylyltransferase Deficiency
    • Galactose Epimerase Deficiency
  • VEGFA
    • Alopecia, Androgenetic, 1
    • Osteogenic Sarcoma
    • Epidermodysplasia Verruciformis
    • Multiple Epiphyseal Dysplasia
  • COL9A1
    • Osteogenic Sarcoma
    • Multiple Epiphyseal Dysplasia
  • IFIH1
    • Singleton Merten Syndrome
  • GABRA1
    • Myoclonic Epilepsy, Juvenile, Susceptibility To, 3

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