DisGeNET - a database of gene-disease associations

Proteinuria, C0033687

Variant: rs869025495 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs869025495

NPHS2

0.700

CausalMutation

CLINVAR

NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.

17899208

2007

dbSNP:

rs869025495

NPHS2

0.700

CausalMutation

CLINVAR

A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome.

15504144

2004

dbSNP:

rs869025495

NPHS2

0.700

CausalMutation

CLINVAR

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

14675423

2004

dbSNP:

rs869025495

NPHS2

0.700

CausalMutation

CLINVAR

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

15253708

2004

dbSNP:

rs869025495

NPHS2

0.700

CausalMutation

CLINVAR

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

14978175

2004