DisGeNET - a database of gene-disease associations

Idiopathic Nephrotic Syndrome, C3496337

Variant: rs1490010141 ×

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:

rs1490010141

NPHS2 ; AXDND1

0.700

GeneticVariation

CLINVAR

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

25349199

2015

dbSNP:

rs1490010141

NPHS2 ; AXDND1

0.700

GeneticVariation

CLINVAR

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.

24509478

2014

dbSNP:

rs1490010141

NPHS2 ; AXDND1

0.700

GeneticVariation

CLINVAR

Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

20947785

2011

dbSNP:

rs1490010141

NPHS2 ; AXDND1

0.700

GeneticVariation

CLINVAR

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.

19145239

2009

dbSNP:

rs1490010141

NPHS2 ; AXDND1

0.700

GeneticVariation

CLINVAR

NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.

12464671

2002