Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 GeneticVariation group BEFREE Patients with nephrotic syndrome and WT1 or NPHS1 mutations with neonatal onset (within 30 days) were eligible. 30963316 2019
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 GeneticVariation group BEFREE The aim of the study was to evaluate NPHS1 mutations, its susceptibility to the disease, and their association in children with steroid-resistant NS; mutation frequency of 9% was observed in patients with steroid-resistant NS, of which, six mutations and two single-nucleotide polymorphisms observed in the study population were found to be novel. 30171708 2018
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 Biomarker group BEFREE Mutations in the <i>NPHS1, NPHS2, LAMB2</i>, and the <i>WT1</i> genes are responsible for causing nephrotic syndrome (NS) in two third of the early onset cases. 30013592 2018
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 GeneticVariation group BEFREE We generated two models for congenital NS, a morpholino injected model targeting nphs1 (nephrin), which is mutated in the Finnish-type congenital NS. 28759637 2017
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 GeneticVariation group BEFREE Our findings indicate that NPHS1 rs437168, but not NPHS2 rs61747728 variant, is associated with NS. 25599733 2015
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 Biomarker group BEFREE Loss of function for crb2b and nphs1 in Danio rerio were previously shown to result in loss of the slit diaphragms of the podocytes, leading to the hypothesis that nephrosis develops from an inability to develop a functional glomerular barrier. 25557780 2015
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 GeneticVariation group BEFREE To determine the frequency of inherited NS, 62 cases (representing 49 families with NS) from Saudi Arabia were screened for mutations in NPHS1, NPHS2, LAMB2, PLCE1, CD2AP, MYO1E, WT1, PTPRO and Nei endonuclease VIII-like 1 (NEIL1). 23595123 2013
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 Biomarker group BEFREE Mutation analysis was carried out by direct sequencing of the NPHS1 and NPHS2 genes in 145 nephrotic syndrome (NS) patients. 22565185 2012
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 GeneticVariation group BEFREE Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. 19406966 2009
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 CausalMutation group CLINVAR Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 18503012 2008
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 GeneticVariation group LHGDN Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 18503012 2008
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 Biomarker group BEFREE The NPHS1 kidneys do not express nephrin, and antibodies against this major glomerular filter protein have been observed in NPHS1 children with recurrent NS. 17519780 2007
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 GeneticVariation group BEFREE NPHS2 mutations were the most frequent cause of nephrotic syndrome among both families with congenital nephrotic syndrome (39.1%) and infantile nephrotic syndrome (35.3%), whereas NPHS1 mutations were solely found in patients with congenital onset. 17371932 2007
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 GeneticVariation group LHGDN A familial childhood-onset relapsing nephrotic syndrome. 17290294 2007
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 GeneticVariation group LHGDN The results demonstrate that NPHS1 and NPHS2 mutations are also present in Chinese sporadic NS patients, suggesting that genetic changes of nephrin and podocin may play pathogenetic roles in some patients with sporadic steroid resistant NS. 17211152 2007
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 Biomarker group BEFREE Mutational analyses of NPHS1 and NPHS2 were performed to verify this hypothesis in sporadic nephrotic syndrome (NS) patients. 17211152 2007
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 Biomarker group LHGDN Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome. 16968734 2006
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 GeneticVariation group BEFREE Because of its prognostic relevance, we advocate molecular genetic testing of LAMB2 in any case of prenatally detected nephrotic syndrome with negative results of NPHS1 mutational screening, especially in the presence of the typical sonomorphologic findings of the kidneys and the development of oligohydramnios. 16450351 2006
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 CausalMutation group CLINVAR Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type. 16518627 2006
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 GeneticVariation group BEFREE Nephrotic syndrome (NS) in infancy includes NS of Finnish type (mutation of the nephrin gene), diffuse mesangial sclerosis (idiopathic or linked to WT1 mutation), idiopathic NS, most often steroid resistant, and NS related to infections during pregnancy (virus, syphilis, toxoplasmosis). 15682315 2005
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 Therapeutic group RGD Glomerular abundance of nephrin and podocin in experimental nephrotic syndrome: different effects of antiproteinuric therapies. 15942045 2005
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 Biomarker group LHGDN Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach. 12495287 2003
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 Biomarker group LHGDN Expression of nephrin, podocin, alpha-actinin, and WT1 in children with nephrotic syndrome. 12961083 2003
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 GeneticVariation group LHGDN Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 11854170 2002
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
0.400 GeneticVariation group LHGDN A missense mutation in the nephrin gene impairs membrane targeting. 12324903 2002