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Advanced Download Gene List
  • ATRX
    • Alpha-Thalassemia Mental Retardation Syndrome
  • PYGM
    • Glycogen Storage Disease Type V
  • WRN
    • Werner Syndrome
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • FBN2
    • Contractural Arachnodactyly, Congenital
  • FMR1
    • Avoidant Personality Disorder
    • Fragile X-Associated Tremor/ataxia Syndrome
  • ATXN3
    • Autosomal Dominant Cerebellar Ataxia
    • Machado–joseph Disease
  • UMOD
    • Medullary Cystic Kidney Disease
  • NGLY1
    • Ngly1 Deficiency
  • UBA1
    • X-Linked Spinal Muscular Atrophy Type 2
  • KRT14
    • Naegeli-Franceschetti-Jadassohn Syndrome
  • MME
    • Cluster Headache
    • Charcot-Marie-Tooth Disease, Axonal, Type 2t
  • PCDH19
    • Epilepsy-Intellectual Disability In Females
  • MORC2
    • Charcot-Marie-Tooth Disease, Axonal, Type 2z
    • Contractural Arachnodactyly, Congenital
  • BSCL2
    • Lipodystrophy, Congenital Generalized, Type 2
  • SLC6A4
    • Avoidant Personality Disorder
    • Cluster Headache
    • Personality Disorder
  • MYCN
    • Pinealoblastoma
    • Feingold Syndrome
  • ISCU
    • Myopathy With Deficiency Of Iron-Sulfur Cluster Assembly Enzyme
  • MAPT
    • Tauopathy
  • ASS1
    • Citrullinemia Type I
    • Contractural Arachnodactyly, Congenital

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