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 Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane. 15496146

2004
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 Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations. 14675423

2004
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 CausalMutation CLINVAR Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations. 14675423

2004
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 CausalMutation CLINVAR Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis. 18443213

2008
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 GeneticVariation CLINVAR Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. 14978175

2004
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 GeneticVariation CLINVAR NPHS2 variation in focal and segmental glomerulosclerosis. 18823551

2008
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 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 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 Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. 19145239

2009
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 GeneticVariation 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 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 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 GeneticVariation 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 GeneticVariation CLINVAR NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. 10742096

2000
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 GeneticVariation 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 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 CausalMutation CLINVAR Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. 14978175

2004
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 GeneticVariation CLINVAR NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms. 15817495

2005
Entrez Id: 126859
Gene Symbol: AXDND1
AXDND1
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.100 GeneticVariation CLINVAR NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. 12464671

2002
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