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Advanced Download Gene List
  • APOE
    • Fabry Disease
    • Wilson Disease
    • Hereditary Transthyretin Amyloidosis
    • Familial Dysautonomia
    • Hypercholesterolemia
    • Polycystic Kidney Disease, Autosomal Dominant
  • GLA
    • Fabry Disease
    • Familial Dysautonomia
  • ENG
    • Hereditary Hemorrhagic Telangiectasia
    • Hypercholesterolemia
    • Dural Arteriovenous Fistula
  • ATP7B
    • Wilson Disease
    • Polycystic Kidney Disease, Autosomal Dominant
  • TTR
    • Fabry Disease
    • Hereditary Transthyretin Amyloidosis
  • SMARCAL1
    • Schimke Immunoosseous Dysplasia
  • ELP1
    • Familial Dysautonomia
  • PKD2
    • Polycystic Kidney Disease, Autosomal Dominant
  • APOB
    • Hypercholesterolemia
  • LDLR
    • Hypercholesterolemia
  • PKD1
    • Polycystic Kidney Disease, Autosomal Dominant
  • NOTCH1
    • Cutis Marmorata
    • Adams-Oliver Syndrome
    • Malignant Peripheral Nerve Sheath Tumor
    • Cutis Marmorata Telangiectatica Congenita
    • Fabry Disease
    • Schimke Immunoosseous Dysplasia
    • Hereditary Transthyretin Amyloidosis
    • Hypercholesterolemia
  • DOCK6
    • Cutis Marmorata
    • Adams-Oliver Syndrome
  • WNT5A
    • Ror2-Related Robinow Syndrome
  • ARHGAP31
    • Cutis Marmorata
    • Adams-Oliver Syndrome
  • TAF1
    • X-Linked Dystonia-Parkinsonism
  • HMGCR
    • Wilson Disease
    • Hypercholesterolemia
  • TTN
    • Salih Myopathy
    • Arrhythmogenic Right Ventricular Cardiomyopathy
  • SKI
    • Shprintzen-Goldberg Syndrome
    • Polycystic Kidney Disease, Autosomal Dominant
  • EOGT
    • Cutis Marmorata
    • Adams-Oliver Syndrome

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