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Advanced Download Gene List
  • ABHD5
    • Cerebral Creatine Deficiency
  • MYO5B
    • Microvillus Inclusion Disease
  • GAMT
    • Guanidinoacetate Methyltransferase Deficiency
  • ABCA12
    • Harlequin Ichthyosis
  • ALS2
    • Infantile-Onset Ascending Hereditary Spastic Paralysis
  • MC2R
    • Familial Glucocorticoid Deficiency
  • CA5A
    • Hyperammonemic Encephalopathy Due To Carbonic Anhydrase Va Deficiency
  • TNF
    • Alopecia, Androgenetic, 1
    • Valvular Heart Disease
    • Septic Arthritis
    • Hippocampal Sclerosis
    • Hypopigmentation
    • Lumbar Disc Disease
    • Harlequin Ichthyosis
  • RHOA
    • Alopecia, Androgenetic, 1
    • Hypopigmentation
  • STX3
    • Microvillus Inclusion Disease
  • HTR2B
    • Valvular Heart Disease
  • SRD5A2
    • Alopecia, Androgenetic, 1
  • AR
    • Alopecia, Androgenetic, 1
  • EPG5
    • Hypopigmentation
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
  • MRAP
    • Familial Glucocorticoid Deficiency
  • VDR
    • Alopecia, Androgenetic, 1
    • Lumbar Disc Disease
  • IL1B
    • Alopecia, Androgenetic, 1
    • Valvular Heart Disease
    • Septic Arthritis
    • Hippocampal Sclerosis
  • FGFR1
    • Valvular Heart Disease
    • Lumbar Disc Disease
    • Harlequin Ichthyosis
  • CILP
    • Lumbar Disc Disease

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