Skip to main content

All conditions under P

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

Skip to conditions

Conditions

  • Paget disease of bone

    Associated gene: TNFRSF11B

  • PAH-related disorder

    Associated gene: PAH

  • Pancreatic agenesis

    Associated gene: PTF1A

  • Periodic fever syndrome

    Associated gene: NLRP3

  • Persistent Mullerian duct syndrome
    2 associated genes
    • AMH
    • AMHR2
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic

    Associated gene: PCK1

  • Pigmentary disorder, reticulate, with systemic manifestations, X-linked

    Associated gene: POLA1

  • POMC deficiency

    Associated gene: POMC

  • Primary Ciliary Dyskinesia
    36 associated genes
    • DNAH5
    • CCDC39
    • DNAH11
    • CCDC40
    • DNAI1
    • SPAG1
    • ODAD2
    • CCDC103
    • ODAD3
    • CCNO
    • CFAP300
    • DNAAF3
    • DNAI2
    • FOXJ1
    • HYDIN
    • MCIDAS
    • ODAD1
    • ODAD4
    • RSPH1
    • RSPH3
    • RSPH4A
    • RSPH9
    • ZMYND10
    • CFAP298
    • CCDC65
    • DNAAF1
    • DNAAF11
    • DNAAF2
    • DNAAF4
    • DNAAF5
    • DNAH9
    • DRC1
    • GAS8
    • DNAAF6
    • DNAL1
    • LRRC56
  • Primary coenzyme Q10 deficiency
    10 associated genes
    • COQ4
    • COQ6
    • COQ2
    • COQ8B
    • COQ5
    • COQ7
    • COQ8A
    • COQ9
    • PDSS1
    • PDSS2
  • Primary hyperoxaluria type I

    Associated gene: AGXT

  • Primary hyperoxaluria type II

    Associated gene: GRHPR

  • Primary hyperoxaluria type III

    Associated gene: HOGA1

  • Primary systemic carnitine deficiency

    Associated gene: SLC22A5

  • Progressive familial intrahepatic cholestasis
    6 associated genes
    • ABCB11
    • ABCB4
    • ATP8B1
    • TJP2
    • USP53
    • ZFYVE19
  • Properdin deficiency

    Associated gene: CFP

  • Propionic acidaemia
    2 associated genes
    • PCCA
    • PCCB
  • Proprotein Convertase Deficiency

    Associated gene: PCSK1

  • Pseudohypoaldosteronism
    7 associated genes
    • SCNN1A
    • SCNN1B
    • SCNN1G
    • NR3C2
    • WNK1
    • KLHL3
    • CUL3
  • PSTPIP1 related inflammatory disease

    Associated gene: PSTPIP1

  • Pyridoxamine 5-prime-phosphate oxidase deficiency

    Associated gene: PNPO

  • Pyridoxine dependent epilepsy

    Associated gene: ALDH7A1

  • Pyruvate dehydrogenase E1-alpha deficiency

    Associated gene: PDHA1

  • Pyruvate kinase deficiency

    Associated gene: PKLR