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All conditions under B

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

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Conditions

  • Bamforth-Lazarus syndrome

    Associated gene: FOXE1

  • Bare lymphocyte syndrome
    7 associated genes
    • CIITA
    • RFXANK
    • RFX5
    • RFXAP
    • TAP1
    • TAP2
    • TAPBP
  • Barth Syndrome

    Associated gene: TAFAZZIN

  • Bartter syndrome
    2 associated genes
    • SLC12A1
    • KCNJ1
  • Bernard-Soulier syndrome
    3 associated genes
    • GP1BA
    • GP1BB
    • GP9
  • Beta Thalassaemia

    Associated gene: HBB

  • Bile acid conjugation defect

    Associated gene: BAAT

  • Biotinidase deficiency

    Associated gene: BTD

  • Bone marrow failure syndrome

    Associated gene: MYSM1

  • Branched-chain ketoacid dehydrogenase kinase deficiency

    Associated gene: BCKDK

  • Bruck Syndrome

    Associated gene: PLOD2