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  • KANK2
    • Nephrotic Syndrome, Type 16
    • Palmoplantar Keratoderma And Woolly Hair
  • ST3GAL3
    • Epileptic Encephalopathy, Early Infantile, 15
    • Mental Retardation, Autosomal Recessive 12
  • CXCR4
    • Whim Syndrome
  • SOS1
    • Epileptic Encephalopathy, Early Infantile, 15
    • Noonan Syndrome 5
  • PTPN11
    • Noonan Syndrome 5
    • Chromosome 8p11 Myeloproliferative Syndrome
  • COMP
    • Pseudoachondroplasia
  • RAF1
    • Noonan Syndrome 5
  • KRAS
    • Noonan Syndrome 5
  • PAX6
    • Aniridia 3
  • TFAP2B
    • Char Syndrome
  • SCNN1B
    • Liddle Syndrome 2
  • KERA
    • Cornea Plana 2, Autosomal Recessive
  • VCP
    • Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
  • LZTR1
    • Noonan Syndrome 5
  • RIT1
    • Noonan Syndrome 5
  • RBM8A
    • Thrombocytopenia-Absent Radius Syndrome
  • SHOC2
    • Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
    • Noonan Syndrome 5
  • AHDC1
    • Xia–gibbs Syndrome
  • NRAS
    • Noonan Syndrome 5
    • Aniridia 3
  • SCN9A
    • Paroxysmal Extreme Pain Disorder

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