All conditions under S

All 200+ conditions are caused by changes to specific genes. These genes are shown underneath each condition.

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Conditions

  • SCID
    16 associated genes
    • ADA
    • IL2RG
    • JAK3
    • NHEJ1
    • IL7R
    • PTPRC
    • RAG1
    • RAG2
    • DCLRE1C
    • CD3D
    • CD3E
    • CD3G
    • CD247
    • AK2
    • CORO1A
    • ZAP70
  • SCOT deficiency

    Associated gene: OXCT1

  • Shwachman-Diamond syndrome
    4 associated genes
    • SBDS
    • EFL1
    • SRP54
    • DNAJC21
  • Sickle Cell Disease

    Associated gene: HBB

  • Specific complement deficiency
    12 associated genes
    • CFB
    • CFH
    • CFI
    • C3
    • C2
    • C5
    • C7
    • C8A
    • C8B
    • C6
    • C9
    • CFD
  • Specific granule deficiency
    2 associated genes
    • SMARCD2
    • CEBPE
  • Spinal muscular atrophy

    Associated gene: SMN1