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Advanced Download Gene List
  • CACNA1A
    • Spinocerebellar Ataxia Type 6
    • Spinocerebellar Ataxia Type 7
  • NOP56
    • Spinocerebellar Ataxia Type 36
    • Spinocerebellar Ataxia Type 6
    • Spinocerebellar Ataxia Type 7
  • GJA1
    • Oculodentodigital Dysplasia
    • Meningioma
    • Cholangiocarcinoma
  • ATXN7
    • Spinocerebellar Ataxia Type 6
    • Spinocerebellar Ataxia Type 7
  • ASL
    • Argininosuccinic Aciduria
    • Meningioma
  • SLC6A19
    • Hartnup Disease
  • BAP1
    • Meningioma
    • Cholangiocarcinoma
  • PMM2
    • Pmm2 Deficiency
  • SALL4
    • Duane-Radial Ray Syndrome
    • Cholangiocarcinoma
  • POLG
    • Merrf Syndrome
    • Balo Concentric Sclerosis
  • F12
    • Factor Xii Deficiency
  • COL6A1
    • Bethlem Myopathy
  • L1CAM
    • L1 Syndrome
    • Cholangiocarcinoma
  • BLM
    • Bloom Syndrome
  • IRF6
    • Hypodontia
    • Van Der Woude Syndrome
    • Cholangiocarcinoma
  • OPA3
    • Costeff Syndrome
  • SLC17A5
    • Salla Disease
  • MPZ
    • Roussy–lévy Syndrome
  • IL6
    • Argininosuccinic Aciduria
    • Van Der Woude Syndrome
    • Meningioma
    • Generalized Pustular Psoriasis
    • Bloom Syndrome
    • Aseptic Meningitis
    • Cholangiocarcinoma
  • MMUT
    • Meningioma
    • Methylmalonyl-Coa Mutase Deficiency

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