Idiopathic Nephrotic Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane.
|
15496146 |
2004 |
Idiopathic Nephrotic Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.
|
11805166 |
2002 |
Idiopathic Nephrotic Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.
|
17899208 |
2007 |
Idiopathic Nephrotic Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.
|
24072147 |
2013 |
Idiopathic Nephrotic Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Broadening the spectrum of diseases related to podocin mutations.
|
12707396 |
2003 |
Idiopathic Nephrotic Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
|
23595123 |
2013 |
Idiopathic Nephrotic Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation.
|
15327385 |
2004 |
Idiopathic Nephrotic Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.
|
14675423 |
2004 |
Idiopathic Nephrotic Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
|
15253708 |
2004 |
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
|
0.700 |
CausalMutation
|
CLINVAR |
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
|
23595123 |
2013 |
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
|
0.700 |
CausalMutation
|
CLINVAR |
Broadening the spectrum of diseases related to podocin mutations.
|
12707396 |
2003 |
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
|
0.700 |
CausalMutation
|
CLINVAR |
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
|
15253708 |
2004 |
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
|
0.700 |
CausalMutation
|
CLINVAR |
NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.
|
24072147 |
2013 |
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
|
0.700 |
CausalMutation
|
CLINVAR |
In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation.
|
15327385 |
2004 |
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.
|
11805166 |
2002 |
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
|
0.700 |
CausalMutation
|
CLINVAR |
NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.
|
17899208 |
2007 |
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
|
0.700 |
CausalMutation
|
CLINVAR |
Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane.
|
15496146 |
2004 |
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
|
0.700 |
CausalMutation
|
CLINVAR |
Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.
|
14675423 |
2004 |
Idiopathic Nephrotic Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
|
10742096 |
2000 |
Idiopathic Nephrotic Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.
|
17899208 |
2007 |
Idiopathic Nephrotic Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
|
22565185 |
2012 |
Idiopathic Nephrotic Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
|
15253708 |
2004 |
Idiopathic Nephrotic Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
|
23242530 |
2013 |
Idiopathic Nephrotic Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
|
24227627 |
2014 |
Idiopathic Nephrotic Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.
|
20947785 |
2011 |