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Advanced Download Gene List
  • ALS2
    • Infantile-Onset Ascending Hereditary Spastic Paralysis
    • Juvenile Primary Lateral Sclerosis
  • PTEN
    • Proteus-Like Syndrome
    • Bannayan–riley–ruvalcaba Syndrome
    • Peutz–jeghers Syndrome
    • Marinesco–sjögren Syndrome
  • CHM
    • Choroideremia
    • X-Linked Intellectual Disability
  • SPRED1
    • Watson Syndrome
    • Legius Syndrome
  • STK11
    • Bannayan–riley–ruvalcaba Syndrome
    • Peutz–jeghers Syndrome
  • MYO5B
    • Microvillus Inclusion Disease
  • VPS33B
    • Arthrogryposis–renal Dysfunction–cholestasis Syndrome
  • PRKAR1A
    • Fibrous Dysplasia Of Bone
    • Hemophagocytic Lymphohistiocytosis
    • Carney Complex
    • Peutz–jeghers Syndrome
  • GNAS
    • Fibrous Dysplasia Of Bone
    • Progressive Osseous Heteroplasia
    • Peutz–jeghers Syndrome
  • MYO5A
    • Griscelli Syndrome
  • VIPAS39
    • Arthrogryposis–renal Dysfunction–cholestasis Syndrome
  • PTPN11
    • Metachondromatosis
    • Heart Arrhythmia
  • NF1
    • Fibrous Dysplasia Of Bone
    • Watson Syndrome
    • Legius Syndrome
  • RAB3GAP1
    • Warburg Micro Syndrome 3
  • SIL1
    • Polycystic Liver Disease
    • Marinesco–sjögren Syndrome
  • ZAP70
    • Zap70 Deficiency
    • Heart Arrhythmia
  • NOTCH3
    • Cadasil
  • RAC2
    • Neutrophil Immunodeficiency Syndrome
  • HLA-DRB1
    • Sarcoidosis, Susceptibility To, 1
    • Leptospirosis
    • Heart Arrhythmia
  • BTNL2
    • Sarcoidosis, Susceptibility To, 1

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