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Advanced Download Gene List
  • PTPN11
    • Metachondromatosis
    • Cardiofaciocutaneous Syndrome
  • PQBP1
    • X-Linked Intellectual Disability
    • Renpenning's Syndrome
  • CHM
    • Choroideremia
    • X-Linked Intellectual Disability
  • MAP2K2
    • Watson Syndrome
    • Cardiofaciocutaneous Syndrome
  • BRAF
    • Marinesco–sjögren Syndrome
    • Cardiofaciocutaneous Syndrome
  • VPS33B
    • Arthrogryposis–renal Dysfunction–cholestasis Syndrome
  • ASL
    • Argininosuccinic Aciduria
  • MAP2K1
    • Cardiofaciocutaneous Syndrome
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • RYR1
    • Malignant Hyperthermia
  • SNAP29
    • Cerebral Dysgenesis–neuropathy–ichthyosis–keratoderma Syndrome
  • VIPAS39
    • Arthrogryposis–renal Dysfunction–cholestasis Syndrome
  • PMM2
    • Pmm2 Deficiency
  • MYO5A
    • Griscelli Syndrome
  • RAB18
    • Warburg Micro Syndrome 3
    • Goldenhar Syndrome
  • KRAS
    • Marinesco–sjögren Syndrome
    • Cardiofaciocutaneous Syndrome
  • RAB3GAP1
    • Warburg Micro Syndrome 3
  • RAB27A
    • Choroideremia
    • Limb–girdle Muscular Dystrophy
    • Griscelli Syndrome Type 2
  • MEGF8
    • Carpenter Syndrome 1
  • GNAS
    • Progressive Osseous Heteroplasia

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