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Advanced Download Gene List
  • RET
    • Thyroid Carcinoma, Familial Medullary
    • Multiple Endocrine Neoplasia, Type Iia
  • MKKS
    • Bardet-Biedl Syndrome 9
    • Mckusick-Kaufman Syndrome
  • COL2A1
    • Avascular Necrosis Of Femoral Head, Primary, 1
    • Collagen, Type Ii, Alpha-1
  • VPS33B
    • Arthrogryposis, Renal Dysfunction, And Cholestasis 1
  • VIPAS39
    • Arthrogryposis, Renal Dysfunction, And Cholestasis 1
  • ZNF469
    • Brittle Cornea Syndrome 1
  • MKS1
    • Bardet-Biedl Syndrome 9
    • Mckusick-Kaufman Syndrome
  • PABPN1
    • Oculopharyngeal Muscular Dystrophy
  • NTRK1
    • Thyroid Carcinoma, Familial Medullary
    • Multiple Endocrine Neoplasia, Type Iia
    • Leiomyosarcoma
  • TBCE
    • Ear Malformation
    • Sanjad-Sakati Syndrome
  • BBS10
    • Bardet-Biedl Syndrome 9
  • SALL4
    • Wildervanck Syndrome
    • Duane Syndrome
  • KRT5
    • Epidermolysis Bullosa Simplex
  • MAFB
    • Ear Malformation
    • Duane Syndrome
  • CHN1
    • Ear Malformation
    • Duane Syndrome
  • SDCCAG8
    • Bardet-Biedl Syndrome 9
  • LZTFL1
    • Bardet-Biedl Syndrome 9
  • GARS1
    • Distal Hereditary Motor Neuropathy Type V
  • GNPTAB
    • Pseudo-Hurler Polydystrophy
  • SIGMAR1
    • Distal Spinal Muscular Atrophy Type 2

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