All conditions under P

Conditions

• Pancreatic agenesis

  Associated gene: PTF1A

• Periodic fever syndrome

  Associated gene: NLRP3

• Phenylketonuria

  Associated gene: PAH

• POMC deficiency

  Associated gene: POMC

• Primary Ciliary Dyskinesia
  33 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
• Primary coenzyme Q10 deficiency
  4 associated genes

  • COQ4
  • COQ6
  • COQ2
  • COQ8B
• 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

• Properdin deficiency

  Associated gene: CFP

• Propionic acidaemia
  2 associated genes

  • PCCA
  • PCCB
• 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 kinase deficiency

  Associated gene: PKLR