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Advanced Download Gene List
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
    • Retinoblastoma
  • GALT
    • Galactose-1-Phosphate Uridylyltransferase Deficiency
    • Galactose Epimerase Deficiency
  • GALE
    • Galactose-1-Phosphate Uridylyltransferase Deficiency
    • Galactose Epimerase Deficiency
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • FOXP3
    • Ipex Syndrome
  • SLC2A10
    • Arterial Tortuosity Syndrome
    • Aneurysm
  • FLNA
    • Multiple Epiphyseal Dysplasia
    • Intestinal Neuronal Dysplasia
    • Fg Syndrome
  • PQBP1
    • Renpenning's Syndrome
  • MED12
    • Fg Syndrome
  • PRPS1
    • Arts Syndrome
  • GALK1
    • Galactose-1-Phosphate Uridylyltransferase Deficiency
    • Galactose Epimerase Deficiency
  • FAM20A
    • Enamel-Renal Syndrome
  • UBE3B
    • Kaufman Oculocerebrofacial Syndrome
  • BCOR
    • Retinoblastoma
    • Adenoid Cystic Carcinoma
  • COL9A1
    • Multiple Epiphyseal Dysplasia
  • IFIH1
    • Singleton Merten Syndrome
  • TP53
    • Retinoblastoma
    • Adenoid Cystic Carcinoma
  • ACTG2
    • Berdon Syndrome
  • SOST
    • Multiple Epiphyseal Dysplasia
    • Retinoblastoma
    • Craniodiaphyseal Dysplasia
  • PTEN
    • Thrombophlebitis
    • Protein Losing Enteropathy
    • Retinoblastoma
    • Adenoid Cystic Carcinoma

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