×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
CausalMutation
disease
CLINVAR
Treatment and outcome of congenital nephrotic syndrome.
29474669
2019
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
CLINVAR
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.
28780565
2017
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
CLINVAR
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome.
28392951
2017
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
CausalMutation
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
CLINVAR
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
28204945
2017
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
CausalMutation
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
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
CLINVAR
NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.
26560236
2016
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
CausalMutation
disease
CLINVAR
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.
26668027
2016
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
UNIPROT
NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.
26560236
2016
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
CausalMutation
disease
CLINVAR
Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.
27019444
2016
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
CausalMutation
disease
CLINVAR
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
25407002
2015
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
UNIPROT
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
25804400
2015
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
CausalMutation
disease
CLINVAR
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
25349199
2015
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
CausalMutation
disease
CLINVAR
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.
25720465
2015
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
BEFREE
Examination of the kidneys in one fetus showed tubular cysts at the corticomedullary junction and diffuse effacement of the epithelial foot processes and microvillous transformation of the renal podocytes, findings that were similar to those reported in congenital nephrotic syndrome, Finnish type , that is caused by mutations in nephrin (NPHS1 ).
25557780
2015
×
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
CLINVAR
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
25349199
2015
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
CausalMutation
disease
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
CLINVAR
Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome.
25501161
2014
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
CausalMutation
disease
CLINVAR
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.
24742477
2014
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
CLINVAR
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.
24902943
2014
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
CausalMutation
disease
CLINVAR
Functional analysis of NPHS1 mutations in Japanese patients.
24142548
2014
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
CausalMutation
disease
CLINVAR
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.
24902943
2014
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
0.800
GeneticVariation
disease
CLINVAR
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.
24742477
2014