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Field	Query

	Field	Term

General Information:

Id:	13,399 (click here to show other Interactions for entry)
Diseases:	Ciliopathy Renal
Organism:	Homo sapiens
Publication type:	review
Reference:	Wheway G and Mitchison HM(2019) Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project Front Genet 10: 127 [PMID: 30915099]

Interaction Information:

Comment	Renal ciliopathies are some of the most common conditions associated with cilia defects. Autosomal polycystic kidney disease (ADPKD) alone affects between 1:2,500and 1:4,000 individuals in the EU, making it one of the most common genetic diseases in humans, and the most common cause of end‚Äďstage renal failure. Renal malformations can also take the form of nephronophthisis, characterized by chronic tubulointerstitial nephritis, in isolated conditions or part of multiorgan ciliopathies including Senior-Loken syndrome.
Formal Description Interaction-ID: 126479	gene/protein PKD1 affects_activity of disease Polycystic kidney disease 1 with or without polycystic liver disease

Comment	Renal ciliopathies are some of the most common conditions associated with cilia defects. Autosomal polycystic kidney disease (ADPKD) alone affects between 1:2,500and 1:4,000 individuals in the EU, making it one of the most common genetic diseases in humans, and the most common cause of end‚Äďstage renal failure. Renal malformations can also take the form of nephronophthisis, characterized by chronic tubulointerstitial nephritis, in isolated conditions or part of multiorgan ciliopathies including Senior-Loken syndrome.
Formal Description Interaction-ID: 126480	gene/protein PKD2 affects_activity of disease Polycystic kidney disease 2 with or without polycystic liver disease

Comment	Renal ciliopathies are some of the most common conditions associated with cilia defects. Autosomal polycystic kidney disease (ADPKD) alone affects between 1:2,500and 1:4,000 individuals in the EU, making it one of the most common genetic diseases in humans, and the most common cause of end‚Äďstage renal failure. Renal malformations can also take the form of nephronophthisis, characterized by chronic tubulointerstitial nephritis, in isolated conditions or part of multiorgan ciliopathies including Senior-Loken syndrome.
Formal Description Interaction-ID: 126481	gene/protein PKHD1 affects_activity of disease Polycystic kidney disease 4 with or without polycystic liver disease

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