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Advanced Download Gene List
  • ASL
    • Argininosuccinic Aciduria
  • MYO5B
    • Microvillus Inclusion Disease
  • FBN2
    • Congenital Contractural Arachnodactyly
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • PMM2
    • Pmm2 Deficiency
  • BRAF
    • Langerhans Cell Histiocytosis
    • Congenital Contractural Arachnodactyly
  • ALS2
    • Infantile-Onset Ascending Hereditary Spastic Paralysis
  • GALE
    • Galactose Epimerase Deficiency
  • IFIH1
    • Hepatitis E
    • Singleton Merten Syndrome
  • MC2R
    • Familial Glucocorticoid Deficiency
  • CFH
    • Membranoproliferative Glomerulonephritis
  • STX3
    • Microvillus Inclusion Disease
  • TSLP
    • Membranoproliferative Glomerulonephritis
    • Lumbar Disc Disease
  • CTNS
    • Cystinosis
  • SLC4A4
    • Proximal Renal Tubular Acidosis
  • DNAJB1
    • Fibrolamellar Hepatocellular Carcinoma
    • Congenital Contractural Arachnodactyly
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
  • MRAP
    • Familial Glucocorticoid Deficiency
  • PRKACA
    • Fibrolamellar Hepatocellular Carcinoma
  • SOST
    • Craniodiaphyseal Dysplasia
    • Langerhans Cell Histiocytosis

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