Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
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