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Advanced Download Gene List
  • ABHD5
    • Cerebral Creatine Deficiency
  • MYO5B
    • Microvillus Inclusion Disease
  • GAMT
    • Guanidinoacetate Methyltransferase Deficiency
  • CTSD
    • Harlequin Ichthyosis
    • Cln10 Disease
  • ABCA12
    • Harlequin Ichthyosis
  • ALS2
    • Infantile-Onset Ascending Hereditary Spastic Paralysis
  • MC2R
    • Familial Glucocorticoid Deficiency
  • CA5A
    • Hyperammonemic Encephalopathy Due To Carbonic Anhydrase Va Deficiency
  • IFIH1
    • Singleton Merten Syndrome
  • STX3
    • Microvillus Inclusion Disease
  • SRD5A2
    • Alopecia, Androgenetic, 1
  • AR
    • Alopecia, Androgenetic, 1
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
  • MRAP
    • Familial Glucocorticoid Deficiency
  • VDR
    • Alopecia, Androgenetic, 1
    • Lumbar Disc Disease
  • CILP
    • Lumbar Disc Disease
  • TNFRSF10A
    • Alopecia, Androgenetic, 1
    • Lumbar Disc Disease
  • COL9A3
    • Lumbar Disc Disease
  • DDX58
    • Singleton Merten Syndrome
  • ABCC2
    • Alopecia, Androgenetic, 1

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