DisGeNET - a database of gene-disease associations

NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE, C1868672

Variant: rs12568913 ×

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:

rs12568913

NPHS2

0.700

GeneticVariation

CLINVAR

Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome.

15780077

2005

dbSNP:

rs12568913

NPHS2

0.700

GeneticVariation

CLINVAR

Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin.

11733557

2001

dbSNP:

rs12568913

NPHS2

0.700

CausalMutation

CLINVAR