DisGeNET - a database of gene-disease associations

PAX2, paired box 2, 5076

N. diseases: 216; N. variants: 29

Disease: Steroid-resistant nephrotic syndrome ×

Variant: rs753350907 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs753350907

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C0403397
Disease:

Steroid-resistant nephrotic syndrome

0.010

GeneticVariation

BEFREE

The pathogenicity of the NPHS2 homozygous p.R229Q variant in steroid-resistant nephrotic syndrome (SRNS) is doubtful.

23800802

2013