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Advanced Download Gene List
  • BEST1
    • Sensorineural Hearing Loss
    • Vitelliform Macular Dystrophy
  • BMPR1A
    • Juvenile Polyposis Syndrome
    • Protein Losing Enteropathy
  • SMAD4
    • Juvenile Polyposis Syndrome
    • Congenital Contractural Arachnodactyly
  • FBN2
    • Congenital Contractural Arachnodactyly
  • SPTB
    • Hereditary Spherocytosis
    • Spherocytosis, Type 3
  • WDR45
    • Epileptic Encephalopathy, Early Infantile, 60
    • Neurodegeneration With Brain Iron Accumulation
  • SLC4A1
    • Sensorineural Hearing Loss
    • Hereditary Spherocytosis
    • Spherocytosis, Type 3
    • Congenital Contractural Arachnodactyly
  • MED12
    • Sensorineural Hearing Loss
    • Fg Syndrome
  • EPB42
    • Hereditary Spherocytosis
    • Spherocytosis, Type 3
  • TRNL1
    • Sensorineural Hearing Loss
    • Epileptic Encephalopathy, Early Infantile, 60
    • Merrf Syndrome
  • SLC17A5
    • Salla Disease
  • GJB2
    • Sensorineural Hearing Loss
  • SLC26A4
    • Sensorineural Hearing Loss
  • SLC2A10
    • Arterial Tortuosity Syndrome
  • TRNF
    • Sensorineural Hearing Loss
    • Merrf Syndrome
  • TRNP
    • Sensorineural Hearing Loss
    • Merrf Syndrome
  • ANK1
    • Hereditary Spherocytosis
    • Spherocytosis, Type 3
  • IFIH1
    • Singleton Merten Syndrome
  • TRNK
    • Sensorineural Hearing Loss
    • Epileptic Encephalopathy, Early Infantile, 60
    • Merrf Syndrome
  • ALB
    • Membranoproliferative Glomerulonephritis
    • Aseptic Meningitis
    • Protein Losing Enteropathy
    • Congenital Contractural Arachnodactyly

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