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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
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
    • Osteogenic Sarcoma
  • POLG
    • Balo Concentric Sclerosis
  • TP53
    • Myotonic Dystrophy
    • Osteogenic Sarcoma
  • FOXP3
    • Ipex Syndrome
    • Osteogenic Sarcoma
  • FMR1
    • Disinhibition
    • Renpenning's Syndrome
    • Fragile X-Associated Tremor/ataxia Syndrome
    • Fg Syndrome
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • FLNA
    • Developmental Dysplasia Of The Hip 1
    • Multiple Epiphyseal Dysplasia
    • Intestinal Neuronal Dysplasia
    • Fg Syndrome
  • EFHC1
    • Myoclonic Epilepsy, Juvenile, Susceptibility To, 3
  • SLC2A10
    • Arterial Tortuosity Syndrome
    • Aneurysm
  • UBE3B
    • Developmental Dysplasia Of The Hip 1
    • Kaufman Oculocerebrofacial Syndrome
  • PQBP1
    • Renpenning's Syndrome
    • Osteogenic Sarcoma
  • MED12
    • Fg Syndrome
  • FAM20A
    • Enamel-Renal Syndrome
  • PRPS1
    • Arts Syndrome
  • GALK1
    • Galactose-1-Phosphate Uridylyltransferase Deficiency
    • Galactose Epimerase Deficiency
  • CHEK2
    • Osteogenic Sarcoma
  • VEGFA
    • Osteogenic Sarcoma
    • Multiple Epiphyseal Dysplasia
    • Lymphangiosarcoma
  • COL9A1
    • Osteogenic Sarcoma
    • Multiple Epiphyseal Dysplasia

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