×
Entrez Id:
81
Gene Symbol:
ACTN4
ACTN4
0.310
GermlineCausalMutation
disease
ORPHANET
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.
10700177
2000
×
Entrez Id:
81
Gene Symbol:
ACTN4
ACTN4
0.310
GeneticVariation
disease
BEFREE
Haplotype analysis suggests that this FSGS gene is located in a 19-cM region flanked by D1S416 and D1S413, of which 6 cM overlaps with SRN1 , suggesting that these distinct clinical subsets of kidney disease may be allelic.
10966492
2000
×
Entrez Id:
51479
Gene Symbol:
ANKFY1
ANKFY1
0.300
GermlineCausalMutation
disease
ORPHANET
GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.
29959197
2018
×
Entrez Id:
54443
Gene Symbol:
ANLN
ANLN
0.300
GermlineCausalMutation
disease
ORPHANET
Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS.
24676636
2014
×
Entrez Id:
8542
Gene Symbol:
APOL1
APOL1
0.300
SusceptibilityMutation
disease
ORPHANET
A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis.
26901816
2016
×
Entrez Id:
8542
Gene Symbol:
APOL1
APOL1
0.300
SusceptibilityMutation
disease
ORPHANET
A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9.
20668430
2010
ARHGAP24
0.300
GermlineCausalMutation
disease
ORPHANET
Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis.
21911940
2011
×
Entrez Id:
396
Gene Symbol:
ARHGDIA
ARHGDIA
0.300
GermlineCausalMutation
disease
ORPHANET
ARHGDIA: a novel gene implicated in nephrotic syndrome.
23434736
2013
×
Entrez Id:
126859
Gene Symbol:
AXDND1
AXDND1
0.100
CausalMutation
disease
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
0.100
GeneticVariation
disease
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
0.100
GeneticVariation
disease
CLINVAR
NPHS2 variation in focal and segmental glomerulosclerosis.
18823551
2008
×
Entrez Id:
126859
Gene Symbol:
AXDND1
AXDND1
0.100
CausalMutation
disease
CLINVAR
Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.
22578956
2012
×
Entrez Id:
126859
Gene Symbol:
AXDND1
AXDND1
0.100
GeneticVariation
disease
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
0.100
CausalMutation
disease
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
0.100
GeneticVariation
disease
CLINVAR
Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation.
21355056
2011
×
Entrez Id:
126859
Gene Symbol:
AXDND1
AXDND1
0.100
GeneticVariation
disease
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
0.100
GeneticVariation
disease
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
0.100
GeneticVariation
disease
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
0.100
CausalMutation
disease
CLINVAR
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.
11805166
2002
×
Entrez Id:
126859
Gene Symbol:
AXDND1
AXDND1
0.100
CausalMutation
disease
CLINVAR
NPHS2 mutation associated with recurrence of proteinuria after transplantation.
15015071
2004
×
Entrez Id:
126859
Gene Symbol:
AXDND1
AXDND1
0.100
GeneticVariation
disease
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
0.100
GeneticVariation
disease
CLINVAR
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
23515051
2013
×
Entrez Id:
126859
Gene Symbol:
AXDND1
AXDND1
0.100
CausalMutation
disease
CLINVAR
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
23242530
2013
×
Entrez Id:
126859
Gene Symbol:
AXDND1
AXDND1
0.100
CausalMutation
disease
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
0.100
CausalMutation
disease
CLINVAR
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
22565185
2012