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Advanced Download Gene List
  • ABCA4
    • Unc119 Lipid-Binding Chaperone
    • Bietti's Crystalline Dystrophy
    • Stargardt Disease 4
    • Cone-Rod Dystrophy 11
  • PROM1
    • Unc119 Lipid-Binding Chaperone
    • Stargardt Disease 4
    • Cone-Rod Dystrophy 12
    • Cone-Rod Dystrophy 11
  • PMM2
    • Pmm2 Deficiency
  • CYP4V2
    • Bietti's Crystalline Dystrophy
  • CRX
    • Unc119 Lipid-Binding Chaperone
    • Pinealoblastoma
    • Stargardt Disease 4
    • Cone-Rod Dystrophy 11
  • ATRX
    • Alpha-Thalassemia Mental Retardation Syndrome
  • ASL
    • Argininosuccinic Aciduria
  • SIX1
    • Branchiootorenal Syndrome 2
  • FMR1
    • Renpenning's Syndrome
    • Fragile X-Associated Tremor/ataxia Syndrome
  • PQBP1
    • Renpenning's Syndrome
  • EYA1
    • Branchiootorenal Syndrome 2
  • C8orf37
    • Unc119 Lipid-Binding Chaperone
    • Bardet-Biedl Syndrome 8
    • Cone-Rod Dystrophy 11
  • PRPH2
    • Unc119 Lipid-Binding Chaperone
    • Stargardt Disease 4
    • Cone-Rod Dystrophy 11
  • AIPL1
    • Unc119 Lipid-Binding Chaperone
    • Cone-Rod Dystrophy 11
  • HARS1
    • Charcot-Marie-Tooth Disease, Axonal, Type 2w
    • Perrault Syndrome 2
    • Long Qt Syndrome 13
  • LARS2
    • Perrault Syndrome 2
  • LZTFL1
    • Unc119 Lipid-Binding Chaperone
    • Bardet-Biedl Syndrome 8
  • CLPP
    • Perrault Syndrome 2
  • MKS1
    • Bardet-Biedl Syndrome 8
  • PDGFRB
    • Chordoma, Susceptibility To
    • Primary Familial Brain Calcification

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