×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
CLINVAR
Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.
22584503
2012
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
CLINVAR
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.
15338398
2004
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
UNIPROT
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.
18614772
2008
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
CLINVAR
Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome.
25729976
2015
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
UNIPROT
A familial childhood-onset relapsing nephrotic syndrome.
17290294
2007
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
UNIPROT
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
22565185
2012
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
BEFREE
Congenital nephrotic syndrome, Finnish type (CNF or NPHS1 ), is an autosomal recessive disease characterized by massive proteinuria and development of nephrotic syndrome shortly after birth.
11317351
2001
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
UNIPROT
Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.
22732337
2012
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
CLINVAR
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.
18614772
2008
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
CLINVAR
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
28204945
2017
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
CLINVAR
Defective trafficking of nephrin missense mutants rescued by a chemical chaperone.
15213260
2004
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
BEFREE
In this study, we correlated the NPHS1 gene mutations to the clinical features and renal findings in 46 Finnish NPHS1 children.
10972661
2000
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
CLINVAR
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
20507940
2010
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
CLINVAR
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
18503012
2008
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
CLINVAR
NPHS1 gene mutations in children with Nephrotic Syndrome in northwest Iran.
24498843
2013
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
CLINVAR
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
20172850
2010
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
CLINVAR
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
28117080
2017
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
UNIPROT
Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.
22009864
2011
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
CLINVAR
Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family.
15906409
2005
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
CLINVAR
Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
11726550
2001
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
UNIPROT
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
20798252
2010
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
BEFREE
Congenital nephrotic syndrome of the Finnish type (NPHS1 ) is a rare genetic disease caused by mutations in the NPHS1 gene encoding a major podocyte slit-diaphragm protein, nephrin.
16941028
2006
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
BEFREE
We confirm an overlap in the NPHS1/NPHS2 mutation spectrum with the characterization of a unique di-genic inheritance of NPHS1 and NPHS2 mutations, which results in a 'tri-allelic' hit and appears to modify the phenotype from CNF to one of congenital focal segmental glomerulosclerosis (FSGS).
11854170
2002
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
CLINVAR
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
21415313
2011
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
UNIPROT
Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
11726550
2001