Source: ALL

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 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 GeneticVariation CLINVAR Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation. 26413278

2015
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 GeneticVariation 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 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 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 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: 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 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 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 Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population. 23645318

2013
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 GeneticVariation CLINVAR Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population. 23645318

2013
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 CausalMutation CLINVAR A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families. 23595123

2013
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 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 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 GeneticVariation 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 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 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 GeneticVariation CLINVAR Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. 20947785

2011
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 CausalMutation CLINVAR Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. 20947785

2011
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 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 GeneticVariation CLINVAR Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 20798252

2010
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 GeneticVariation CLINVAR Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation. 21171529

2010
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