rs138656762
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
Finnish congenital nephrotic syndrome
0.800
GeneticVariation
UNIPROT
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
25804400
2015
rs138656762
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
Finnish congenital nephrotic syndrome
0.800
GeneticVariation
UNIPROT
A familial childhood-onset relapsing nephrotic syndrome.
17290294
2007
rs138656762
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
Finnish congenital nephrotic syndrome
A
0.800
GeneticVariation
CLINVAR
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
20172850
2010
rs138656762
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
Finnish congenital nephrotic syndrome
0.800
GeneticVariation
UNIPROT
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
20798252
2010
rs138656762
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
Finnish congenital nephrotic syndrome
0.800
GeneticVariation
UNIPROT
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
20172850
2010
rs138656762
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
Finnish congenital nephrotic syndrome
A
0.800
GeneticVariation
CLINVAR
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
19812541
2009
rs138656762
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
Finnish congenital nephrotic syndrome
A
0.800
GeneticVariation
CLINVAR
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
21415313
2011
rs138656762
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
Finnish congenital nephrotic syndrome
A
0.800
CausalMutation
CLINVAR
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.
24742477
2014
rs138656762
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
Finnish congenital nephrotic syndrome
0.800
GeneticVariation
UNIPROT
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
18503012
2008
rs138656762
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
Finnish congenital nephrotic syndrome
A
0.800
CausalMutation
CLINVAR
Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.
27019444
2016
rs138656762
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
Finnish congenital nephrotic syndrome
0.800
GeneticVariation
UNIPROT
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.
18614772
2008
rs138656762
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
Finnish congenital nephrotic syndrome
0.800
GeneticVariation
UNIPROT
Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
9915943
1999
rs138656762
×
Entrez Id:
4868
Gene Symbol:
NPHS1
NPHS1
Finnish congenital nephrotic syndrome
0.800
GeneticVariation
UNIPROT
Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
11317351
2001
rs139598219
NPHS1;KIRREL2
Finnish congenital nephrotic syndrome
0.800
GeneticVariation
UNIPROT
NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.
26560236
2016
rs139598219
NPHS1;KIRREL2
Finnish congenital nephrotic syndrome
0.800
GeneticVariation
UNIPROT
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
25804400
2015
rs139598219
NPHS1;KIRREL2
Finnish congenital nephrotic syndrome
0.800
GeneticVariation
UNIPROT
Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
11726550
2001
rs139598219
NPHS1;KIRREL2
Finnish congenital nephrotic syndrome
A
0.800
GeneticVariation
CLINVAR
Rituximab treatment for recurrence of nephrotic syndrome in a pediatric patient after renal transplantation for congenital nephrotic syndrome of Finnish type.
21672106
2012
rs139598219
NPHS1;KIRREL2
Finnish congenital nephrotic syndrome
0.800
GeneticVariation
UNIPROT
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
20798252
2010
rs139598219
NPHS1;KIRREL2
Finnish congenital nephrotic syndrome
0.800
GeneticVariation
UNIPROT
Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.
10652016
2000
rs139598219
NPHS1;KIRREL2
Finnish congenital nephrotic syndrome
0.800
GeneticVariation
UNIPROT
Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.
22732337
2012
rs139598219
NPHS1;KIRREL2
Finnish congenital nephrotic syndrome
0.800
GeneticVariation
UNIPROT
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
18503012
2008
rs139598219
NPHS1;KIRREL2
Finnish congenital nephrotic syndrome
0.800
GeneticVariation
UNIPROT
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
22565185
2012
rs139598219
NPHS1;KIRREL2
Finnish congenital nephrotic syndrome
0.800
GeneticVariation
UNIPROT
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.
18614772
2008
rs139598219
NPHS1;KIRREL2
Finnish congenital nephrotic syndrome
0.800
GeneticVariation
UNIPROT
A familial childhood-onset relapsing nephrotic syndrome.
17290294
2007
rs139598219
NPHS1;KIRREL2
Finnish congenital nephrotic syndrome
0.800
GeneticVariation
UNIPROT
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
20172850
2010