All conditions under A

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

Skip to conditions

Conditions

  • Abetalipoproteinaemia

    Associated gene: MTTP

  • Achalasia-addisonianism-alacrimia syndrome

    Associated gene: AAAS

  • Acrodermatitis enteropathica

    Associated gene: SLC39A4

  • Adenine phosphoribosyltransferase deficiency

    Associated gene: APRT

  • Adenosine deaminase 2 deficiency

    Associated gene: ADA2

  • Adrenocorticotropic hormone deficiency

    Associated gene: TBX19

  • Adrenoleukodystrophy

    Associated gene: ABCD1

  • Afibrinogenaemia
    3 associated genes
    • FGA
    • FGB
    • FGG
  • Agammaglobulinaemia
    9 associated genes
    • BTK
    • IGHM
    • IGLL1
    • CD79A
    • CD79B
    • BLNK
    • PIK3R1
    • TCF3
    • SLC39A7
  • Alpha-methylacetoacetic aciduria

    Associated gene: ACAT1

  • Alport syndrome
    3 associated genes
    • COL4A5
    • COL4A4
    • COL4A3
  • Apparent mineralocorticoid excess

    Associated gene: HSD11B2

  • Arginase deficiency

    Associated gene: ARG1

  • Argininosuccinic aciduria

    Associated gene: ASL

  • Aromatic L-amino acid decarboxylase deficiency

    Associated gene: DDC

  • Ataxia with vitamin E deficiency

    Associated gene: TTPA

  • Atransferrinaemia

    Associated gene: TF

  • Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia

    Associated gene: AIRE