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Advanced Download Gene List
  • ASL
    • Argininosuccinic Aciduria
  • MYO5B
    • Microvillus Inclusion Disease
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • PMM2
    • Pmm2 Deficiency
  • ALS2
    • Infantile-Onset Ascending Hereditary Spastic Paralysis
  • PQBP1
    • Renpenning's Syndrome
  • IFIH1
    • Valvular Heart Disease
    • Singleton Merten Syndrome
    • Polymyositis
  • MC2R
    • Familial Glucocorticoid Deficiency
  • TNF
    • Valvular Heart Disease
    • Hypopigmentation
    • Lumbar Disc Disease
    • Polymyositis
    • Familial Isolated Vitamin E Deficiency
    • Renpenning's Syndrome
  • IL1B
    • Erdheim–chester Disease
    • Valvular Heart Disease
    • Polymyositis
    • Renpenning's Syndrome
  • STX3
    • Microvillus Inclusion Disease
  • HTR2B
    • Valvular Heart Disease
  • BRAF
    • Erdheim–chester Disease
  • EPG5
    • Hypopigmentation
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
  • MRAP
    • Familial Glucocorticoid Deficiency
  • FGFR1
    • Valvular Heart Disease
    • Lumbar Disc Disease
  • TIMP1
    • Valvular Heart Disease
    • Lumbar Disc Disease
    • Polymyositis
  • CILP
    • Lumbar Disc Disease
  • DDX58
    • Singleton Merten Syndrome
    • Polymyositis

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