Gene: AXDND1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs967339926
rs967339926
NPHS2 ; AXDND1
T 0.700 GeneticVariation CLINVAR Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. 26668027

2016
dbSNP: rs1214047676
rs1214047676
NPHS2 ; AXDND1
0.700 GeneticVariation UNIPROT NPHS2 mutations account for only 15% of nephrotic syndrome cases. 26420286

2015
dbSNP: rs1490010141
rs1490010141
NPHS2 ; AXDND1
T 0.700 GeneticVariation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199

2015
dbSNP: rs199506378
rs199506378
NPHS2 ; AXDND1
A 0.700 GeneticVariation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199

2015
dbSNP: rs199506378
rs199506378
NPHS2 ; AXDND1
A 0.700 GeneticVariation CLINVAR Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation. 26413278

2015
dbSNP: rs776859868
rs776859868
NPHS2 ; AXDND1
0.700 GeneticVariation UNIPROT NPHS2 mutations account for only 15% of nephrotic syndrome cases. 26420286

2015
dbSNP: rs967339926
rs967339926
NPHS2 ; AXDND1
T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs1214047676
rs1214047676
NPHS2 ; AXDND1
0.700 GeneticVariation UNIPROT NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 24227627

2014
dbSNP: rs1490010141
rs1490010141
NPHS2 ; AXDND1
T 0.700 GeneticVariation CLINVAR Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. 24509478

2014
dbSNP: rs1553312833
rs1553312833
NPHS2 ; AXDND1
T 0.700 GeneticVariation CLINVAR NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 24227627

2014
dbSNP: rs199506378
rs199506378
NPHS2 ; AXDND1
A 0.700 GeneticVariation CLINVAR Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. 24509478

2014
dbSNP: rs776859868
rs776859868
NPHS2 ; AXDND1
0.700 GeneticVariation UNIPROT NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 24227627

2014
dbSNP: rs1214047676
rs1214047676
NPHS2 ; AXDND1
0.700 GeneticVariation UNIPROT NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 23242530

2013
dbSNP: rs1214047676
rs1214047676
NPHS2 ; AXDND1
0.700 GeneticVariation UNIPROT Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment. 23913389

2013
dbSNP: rs1214047676
rs1214047676
NPHS2 ; AXDND1
0.700 GeneticVariation UNIPROT NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children. 24072147

2013
dbSNP: rs1214047676
rs1214047676
NPHS2 ; AXDND1
0.700 GeneticVariation UNIPROT NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis. 23800802

2013
dbSNP: rs1553312833
rs1553312833
NPHS2 ; AXDND1
T 0.700 GeneticVariation CLINVAR Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population. 23645318

2013
dbSNP: rs199506378
rs199506378
NPHS2 ; AXDND1
A 0.700 GeneticVariation CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051

2013
dbSNP: rs775170915
rs775170915
NPHS2 ; AXDND1
C 0.700 CausalMutation CLINVAR NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 23242530

2013
dbSNP: rs776859868
rs776859868
NPHS2 ; AXDND1
0.700 GeneticVariation UNIPROT Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment. 23913389

2013
dbSNP: rs776859868
rs776859868
NPHS2 ; AXDND1
0.700 GeneticVariation UNIPROT NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis. 23800802

2013
dbSNP: rs776859868
rs776859868
NPHS2 ; AXDND1
0.700 GeneticVariation UNIPROT NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children. 24072147

2013
dbSNP: rs776859868
rs776859868
NPHS2 ; AXDND1
0.700 GeneticVariation UNIPROT NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 23242530

2013
dbSNP: rs1214047676
rs1214047676
NPHS2 ; AXDND1
0.700 GeneticVariation UNIPROT Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. 22578956

2012
dbSNP: rs1214047676
rs1214047676
NPHS2 ; AXDND1
0.700 GeneticVariation UNIPROT A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. 22565185

2012