Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
0.490 Biomarker disease BEFREE With these reports, we identify NPHP4 as an appreciable genetic cause for adult-diagnosed nonsyndromic NPHP that should be considered by adult nephrologists. 31810733 2019
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
0.490 GeneticVariation disease BEFREE The diagnosis of nephronophthisis was made by means of mutational analysis of the NPHP4 gene after isolation of a region of homozygosity in affected individuals by using whole-genome single-nucleotide polymorphism analysis. 17954299 2007
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
0.490 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
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
0.490 GeneticVariation disease BEFREE Their interaction is disrupted by either mutations in RPGRIP1, found in patients with LCA, or by mutations in NPHP4, found in patients with nephronophthisis or SLSN. 16339905 2005
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
0.490 CausalMutation disease CLINVAR Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. 15776426 2005
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
0.490 GeneticVariation disease BEFREE Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. 15776426 2005
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
0.490 Biomarker disease BEFREE Loci associated with an infantile type of NPHP on 9q22-q31 (NPHP2), juvenile types of NPHP on chromosomes 2q12-q13 (NPHP1) and 1p36 (NPHP4) and an adolescent type of NPHP on 3q21-q22 (NPHP3) have been mapped. 12872122 2003
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
0.490 CausalMutation disease CLINVAR The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. 12244321 2002
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
0.490 GeneticVariation disease BEFREE We here report identification of the gene (NPHP4) causing NPHP type 4, by use of high-resolution haplotype analysis and by demonstration of nine likely loss-of-function mutations in six affected families. 12205563 2002
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
0.490 Biomarker disease BEFREE We thus identified a new locus, NPHP4, for nephronophthisis. 11920287 2002
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
0.490 CausalMutation disease CLINVAR A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. 12205563 2002
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
0.490 GeneticVariation disease BEFREE We identified five different mutations in one of these genes, designated NPHP4, in unrelated individuals with nephronophthisis. 12244321 2002
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
0.490 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
0.490 Biomarker disease HPO