Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
GeneticVariation |
CLINVAR |
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
|
23242530 |
2013 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
CausalMutation |
CLINVAR |
In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation.
|
15327385 |
2004 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
GeneticVariation |
CLINVAR |
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.
|
24509478 |
2014 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
GeneticVariation |
CLINVAR |
Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation.
|
21355056 |
2011 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
GeneticVariation |
CLINVAR |
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.
|
26668027 |
2016 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
CausalMutation |
CLINVAR |
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
|
15253708 |
2004 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
CausalMutation |
CLINVAR |
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.
|
24742477 |
2014 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
CausalMutation |
CLINVAR |
Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.
|
18216321 |
2008 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
|
20507940 |
2010 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
GeneticVariation |
CLINVAR |
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
|
24227627 |
2014 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
CausalMutation |
CLINVAR |
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
|
25349199 |
2015 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
CausalMutation |
CLINVAR |
NPHS2 mutation associated with recurrence of proteinuria after transplantation.
|
15015071 |
2004 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
CausalMutation |
CLINVAR |
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.
|
11805166 |
2002 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
CausalMutation |
CLINVAR |
Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.
|
22578956 |
2012 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
GeneticVariation |
CLINVAR |
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
|
23515051 |
2013 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
GeneticVariation |
CLINVAR |
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
|
21415313 |
2011 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
CausalMutation |
CLINVAR |
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
|
23242530 |
2013 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
CausalMutation |
CLINVAR |
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
|
22565185 |
2012 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
CausalMutation |
CLINVAR |
NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.
|
17899208 |
2007 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
GeneticVariation |
CLINVAR |
Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children.
|
15769810 |
2005 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
GeneticVariation |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Entrez Id: |
126859 |
Gene Symbol: |
AXDND1 |
AXDND1
|
Idiopathic Nephrotic Syndrome
|
0.100 |
CausalMutation |
CLINVAR |
Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation.
|
21171529 |
2010 |