|
| Entrez Id: |
126859 |
| Gene Symbol: |
AXDND1 |
AXDND1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.
|
18443213 |
2008 |
|
| Entrez Id: |
126859 |
| Gene Symbol: |
AXDND1 |
AXDND1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.
|
18216321 |
2008 |
|
| Entrez Id: |
126859 |
| Gene Symbol: |
AXDND1 |
AXDND1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.
|
17899208 |
2007 |
|
| Entrez Id: |
126859 |
| Gene Symbol: |
AXDND1 |
AXDND1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children.
|
15769810 |
2005 |
|
| Entrez Id: |
126859 |
| Gene Symbol: |
AXDND1 |
AXDND1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.
|
15817495 |
2005 |
|
| 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 |
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 |
NPHS2 mutation associated with recurrence of proteinuria after transplantation.
|
15015071 |
2004 |
|
| Entrez Id: |
126859 |
| Gene Symbol: |
AXDND1 |
AXDND1
|
0.100 |
GeneticVariation
|
disease |
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
|
0.100 |
CausalMutation
|
disease |
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
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.
|
14675423 |
2004 |
|
| Entrez Id: |
126859 |
| Gene Symbol: |
AXDND1 |
AXDND1
|
0.100 |
GeneticVariation
|
disease |
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
|
0.100 |
CausalMutation
|
disease |
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
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.
|
14675423 |
2004 |
|
| 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 |
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 |
GeneticVariation
|
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 |
GeneticVariation
|
disease |
CLINVAR |
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
|
10742096 |
2000 |
|
| Entrez Id: |
54885 |
| Gene Symbol: |
TBC1D8B |
TBC1D8B
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.
|
30661770 |
2019 |
|
| Entrez Id: |
23279 |
| Gene Symbol: |
NUP160 |
NUP160
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
|
30179222 |
2018 |
|
| 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: |
26130 |
| Gene Symbol: |
GAPVD1 |
GAPVD1
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.
|
29959197 |
2018 |
|
| Entrez Id: |
55746 |
| Gene Symbol: |
NUP133 |
NUP133
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
|
30179222 |
2018 |
|
| Entrez Id: |
79902 |
| Gene Symbol: |
NUP85 |
NUP85
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
|
30179222 |
2018 |