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Advanced Download Gene List
  • COMP
    • Pseudoachondroplasia
  • KERA
    • Cornea Plana 2, Autosomal Recessive
  • SCNN1B
    • Liddle Syndrome 2
  • VCP
    • Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
  • COL2A1
    • Collagen, Type Ii, Alpha-1
    • Pseudoachondroplasia
  • SLC4A1
    • Southeast Asian Ovalocytosis
  • RBM8A
    • Thrombocytopenia-Absent Radius Syndrome
  • AHDC1
    • Xia–gibbs Syndrome
  • SAMD9L
    • Ataxia-Pancytopenia Syndrome
  • SAMD9
    • Tumoral Calcinosis, Normophosphatemic, Familial
  • CRYBB3
    • Cataract 22, Multiple Types
  • KIDINS220
    • Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
  • SCNN1G
    • Liddle Syndrome 2
  • PAH
    • Phenylketonuria
  • PRNP
    • Kuru, Susceptibility To
    • Akinetic Mutism
  • DHX30
    • Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
  • SCNN1A
    • Liddle Syndrome 2
  • GRIA4
    • Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
  • CDKL5
    • Epileptic Encephalopathy, Early Infantile, 15
  • ARX
    • Epileptic Encephalopathy, Early Infantile, 15

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