×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
CausalMutation
disease
CLINVAR
Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.
29382718
2018
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
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:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
GeneticVariation
disease
BEFREE
Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children.
26820844
2017
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
CausalMutation
disease
CLINVAR
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
28204945
2017
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
GeneticVariation
disease
CLINVAR
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.
26668027
2016
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
GeneticVariation
disease
UNIPROT
NPHS2 mutations account for only 15% of nephrotic syndrome cases.
26420286
2015
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
GeneticVariation
disease
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
CausalMutation
disease
CLINVAR
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
25349199
2015
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
GeneticVariation
disease
CLINVAR
Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation.
26413278
2015
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
Biomarker
disease
GENOMICS_ENGLAND
Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.
26138234
2015
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
GeneticVariation
disease
CLINVAR
Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children.
25599733
2015
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
GeneticVariation
disease
CLINVAR
Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.
26138234
2015
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
GeneticVariation
disease
CLINVAR
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
25349199
2015
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
GeneticVariation
disease
UNIPROT
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
24227627
2014
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
GeneticVariation
disease
CLINVAR
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.
24509478
2014
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
CausalMutation
disease
CLINVAR
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.
24742477
2014
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
CausalMutation
disease
CLINVAR
Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis.
24500309
2014
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
CausalMutation
disease
CLINVAR
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
24227627
2014
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
GeneticVariation
disease
BEFREE
Here we present an autosomal-recessive disorder, nephrotic syndrome type 2 (MIM 600995), in which the pathogenicity of an NPHS2 allele encoding p.Arg229Gln depends on the trans-associated mutation.
24509478
2014
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
GeneticVariation
disease
CLINVAR
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
24227627
2014
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
CausalMutation
disease
CLINVAR
Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family.
25852895
2014
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
CausalMutation
disease
CLINVAR
Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.
24856380
2014
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
GeneticVariation
disease
UNIPROT
Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment.
23913389
2013
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
GeneticVariation
disease
UNIPROT
NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.
24072147
2013
×
Entrez Id:
7827
Gene Symbol:
NPHS2
NPHS2
0.680
GeneticVariation
disease
UNIPROT
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
23242530
2013