NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE An individualized, stepwise approach with prolonged conservative management may be a reasonable alternative to early bilateral nephrectomies and dialysis in children with CNS and NPHS1 mutations. 30215773 2019
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE Mutations in the NPHS1 gene that encodes nephrin cause congenital nephrotic syndrome (CNS), which is characterized by the loss of the SD and massive proteinuria. 22747997 2012
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE The main objective of this study was to perform the analysis of the NPHS1 gene in patients with congenital nephrotic syndrome in order to determine the molecular cause of the disease. 26560236 2016
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE This study demonstrates that the majority of CNS cases (67%, 8/12 patients) are caused by genetic defects, and the NPHS1 mutation is the most common cause of CNS in Chinese patients. 30594156 2018
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE To date, however, the effect of CNS-associated NPHS1 variants on nephrin phosphorylation remains to be determined, which hampers genotype-phenotype correlations. 30212551 2018
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE Congenital nephrotic syndrome of the Finnish type (CNF) is due to NPHS1 mutation and is responsible for a variety of urinary protein losses. 19153070 2009
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 Biomarker disease BEFREE Congenital nephrotic syndrome of the Finnish type (CNF, NPHS1) is caused by mutations in the NPHS1 gene. 11884936 2002
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE Mutations in the NPHS1 gene cause congenital nephrotic syndrome of the Finnish type presenting before the first 3 months of life. 19812541 2009
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE Mutations in the nephrin gene (NPHS1) lead to congenital nephrosis, suggesting that nephrin is essential for the glomerular filtration barrier. 11158218 2001
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE Congenital nephrotic syndrome of the Finnish type, due to homozygous mutation of NPHS1, is the most common form of congenital nephrotic syndrome. 16703378 2006
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE In addition, 3D organoid glomeruli from a congenital nephrotic syndrome patient with compound heterozygous NPHS1 mutations reveal reduced protein levels of both NEPHRIN and PODOCIN. 30514835 2018
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 Biomarker disease BEFREE Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1). 16362719 2006
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal-recessive disorder, characterized by massive proteinuria in utero and nephrosis at birth. 9660941 1998
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 Biomarker disease BEFREE Congenital nephrotic syndrome of the Finnish type (NPHS1) is a genetic disease caused by mutations in a podocyte protein nephrin, which leads to constant heavy proteinuria from birth. 15954901 2005
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE Mutations in the nephrin gene (NPHS1) are responsible for congenital nephrotic syndrome of the Finnish type (NPHS1). 14764915 2004
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE Kidney Int 2005; 67: 1248-1255) that suggested that the mutation of NPHS1 was not a major cause of CNS in Japanese patients. 19321760 2009
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE We found bi-allelic mutations in 36 of the 62 families (58%) confirming in a worldwide cohort that about one-half of CNS is caused by NPHS1 mutations. 20172850 2010
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE The genetic evaluation revealed a heterozygous variant in NPHS1 (p.Arg207Trp), in NPHS2 (p.Ser95Phe) as well as in PLCE1 (p.Ala1045Ser) and did not explain CNS. 29663071 2018
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome. 22009864 2011
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE Our study provides further evidence that loss of function of the nephrin gene is the main cause of congenital nephrotic syndrome of the Finnish type in Italian patients. 12495287 2003
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE NPHS1, which encodes nephrin, recently has been identified as the gene in which mutations cause congenital nephrotic syndrome of the Finnish type (CNF). 12324903 2002
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE Genetic mutations in NPHS1 gene, which encodes nephrin, have been found to cause congenital nephrotic syndrome. 14730545 2004
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE In this study, we described a Japanese CNS family associated with a novel missense point mutation in the nephrin gene. 10652016 2000
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 GeneticVariation disease BEFREE Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. 11726550 2001
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
0.500 Biomarker disease BEFREE Congenital nephrotic syndrome of the Finnish type (NPHS1, CNF) is an autosomal recessive disease caused by mutations in a major podocyte protein, nephrin. 20020158 2010