NPHP4, nephrocystin 4, 261734

N. diseases: 46; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.310 Biomarker disease BEFREE In addition, we show that RPGRIP1L colocalizes at the basal body and centrosomes with the protein products of both NPHP6 and NPHP4, known genes associated with MKS, CORS and nephronophthisis (a related renal disorder and ciliopathy). 17558409 2007
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.310 Biomarker disease GENOMICS_ENGLAND