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Advanced Download Gene List
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • FMR1
    • Fg Syndrome
    • Fragile X-Associated Tremor/ataxia Syndrome
    • Disinhibition
    • Renpenning's Syndrome
  • MED12
    • Fg Syndrome
  • SLC17A5
    • Salla Disease
  • FECH
    • Erythropoietic Protoporphyria
  • PQBP1
    • Renpenning's Syndrome
  • GNAQ
    • Sturge–weber Syndrome
  • FAM20A
    • Enamel-Renal Syndrome
  • UBE3B
    • Kaufman Oculocerebrofacial Syndrome
  • IFIH1
    • Chronic Periodontitis
    • Singleton Merten Syndrome
  • FLNA
    • Fg Syndrome
    • Intestinal Neuronal Dysplasia
  • RASA1
    • Sturge–weber Syndrome
  • CD55
    • Protein Losing Enteropathy
  • ASS1
    • Citrullinemia Type I
  • PTEN
    • Thrombophlebitis
    • Protein Losing Enteropathy
    • Adenoid Cystic Carcinoma
  • TP53
    • Fibrolamellar Hepatocellular Carcinoma
    • Adenoid Cystic Carcinoma
  • CTNS
    • Cystinosis
  • PIK3CA
    • Salla Disease
    • Chronic Periodontitis
    • Adenoid Cystic Carcinoma
    • Sturge–weber Syndrome
  • NOTCH1
    • Adenoid Cystic Carcinoma
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
    • Hemangioendothelioma

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