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Advanced Download Gene List
  • CLCN5
    • Dent Disease
    • Dent's Disease
    • Dent Disease
    • Dent Disease
    • Dent Disease Type 1
  • OCRL
    • Primary Fanconi Renotubular Syndrome
    • Dent Disease
    • Dent's Disease
    • Dent Disease
    • Joint Stiffness
    • Oculocerebrorenal Syndrome
  • GJA1
    • Oculodentodigital Dysplasia
    • Cubitus Valgus
  • ATRX
    • Joint Stiffness
    • Alpha-Thalassemia Mental Retardation Syndrome
  • BEST1
    • Vitelliform Macular Dystrophy
  • SCNN1B
    • Liddle Syndrome 2
  • VCP
    • Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
  • FAM20A
    • Enamel-Renal Syndrome
  • MED12
    • Fg Syndrome
    • Alpha-Thalassemia Mental Retardation Syndrome
  • SCN9A
    • Paroxysmal Extreme Pain Disorder
  • UBA1
    • Joint Stiffness
    • X-Linked Spinal Muscular Atrophy Type 2
  • RBM8A
    • Thrombocytopenia-Absent Radius Syndrome
  • AHDC1
    • Xia–gibbs Syndrome
  • SAMD9
    • Tumoral Calcinosis, Normophosphatemic, Familial
  • CRYBB3
    • Cataract 22, Multiple Types
  • KIDINS220
    • Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
  • SMARCD1
    • Foot Deformity
    • Hand Deformity
  • PIGB
    • Foot Deformity
    • Hand Deformity
  • SCNN1G
    • Liddle Syndrome 2
  • OFD1
    • Orofaciodigital Syndrome 1

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