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Field	Query

	Field	Term

General Information:

Id:	13,399
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: 126274	gene/protein ANKS6 affects_activity of disease Nephronophthisis 16

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: 126469	gene/protein CEP164 affects_activity of disease Nephronophthisis 15

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: 126470	gene/protein CEP83 affects_activity of disease Nephronophthisis 18

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: 126471	gene/protein DCDC2 affects_activity of disease Nephronophthisis 19

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: 126472	gene/protein GLIS2 affects_activity of disease Nephronophthisis 7

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: 126473	gene/protein INVS affects_activity of disease Nephronophthisis 2

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: 126474	gene/protein IQCB1 affects_activity of disease Senior-Loken syndrome 5

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: 126475	gene/protein MAPKBP1 affects_activity of disease Nephronophthisis 20

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: 126476	gene/protein NEK8 affects_activity of disease Nephronophthisis 9

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: 126477	gene/protein NPHP4 affects_activity of disease Nephronophthisis 4

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: 126478	gene/protein NPHP4 affects_activity of disease Senior-Loken syndrome 4

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

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: 126482	gene/protein SDCCAG8 affects_activity of disease Bardet-Biedl syndrome 16

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: 126483	gene/protein SDCCAG8 affects_activity of disease Senior-Loken syndrome 7

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: 126484	gene/protein TRAF3IP1 affects_activity of disease Senior-Loken syndrome 9

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: 126485	gene/protein VHL affects_activity of disease von Hippel-Lindau syndrome

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: 126486	gene/protein XPNPEP3 affects_activity of disease Nephronophthisis-like nephropathy 1

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