DisGeNET - a database of gene-disease associations

Idiopathic Nephrotic Syndrome, C3496337

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:

rs61747728

NPHS2

0.810

GeneticVariation

BEFREE

Here we present an autosomal-recessive disorder, nephrotic syndrome type 2 (MIM 600995), in which the pathogenicity of an NPHS2 allele encoding p.Arg229Gln depends on the trans-associated mutation.

24509478

2014

dbSNP:

rs1128503

ABCB1

0.030

GeneticVariation

BEFREE

The role of the multidrug resistance-1 (MDR1 or ABCB1) gene polymorphisms 1236T>C, 2677T>G, and 3435T>C was studied in relation to susceptibility, demographics, and pathological characteristics, as well as their role in the therapeutic response (TR) to prednisone treatment in children with idiopathic nephrotic syndrome (INS).

25559283

2015

dbSNP:

rs1128503

ABCB1

0.030

GeneticVariation

BEFREE

Studies have investigated rs1128503, rs1045642, and rs2032582 in multidrug resistance protein 1 (MDR1) for association with susceptibility to idiopathic nephrotic syndrome (INS) and steroid resistance.

28614261

2017

dbSNP:

rs1128503

ABCB1

0.030

GeneticVariation

BEFREE

The purpose of the study was to investigate the distribution of insertion/deletion (I/D) polymorphisms of the angiotensin-converting enzyme (ACE) gene and three exonic polymorphisms of the multidrug resistance 1 (MDR1) gene (C3435T, C1236T, and G2677T) in children diagnosed with idiopathic nephrotic syndrome (INS).

26154535

2015

dbSNP:

rs2032582

ABCB1

0.030

GeneticVariation

BEFREE

25559283

2015

dbSNP:

rs2032582

ABCB1

0.030

GeneticVariation

BEFREE

28614261

2017

dbSNP:

rs2032582

ABCB1

0.030

GeneticVariation

BEFREE

26154535

2015

dbSNP:

rs1045642

ABCB1

0.020

GeneticVariation

BEFREE

28614261

2017

dbSNP:

rs1045642

ABCB1

0.020

GeneticVariation

BEFREE

25559283

2015

dbSNP:

rs1217691063

MTHFR

0.010

GeneticVariation

BEFREE

We postulate that screening for factors such as factor V Leiden and MTHFR C677T mutation may be beneficial to patients associated with thromboembolism and idiopathic nephrotic syndrome.

18030499

2008

dbSNP:

rs1801274

FCGR2A

0.010

GeneticVariation

BEFREE

The FCGR2A rs1801274 SNP in the gene encoding the activating receptor CD32A confers susceptibility to idiopathic nephrotic syndrome.

29155175

2018

dbSNP:

rs231775

CTLA4

0.010

GeneticVariation

BEFREE

To detect Cytotoxic T- Lymphocyte Antigen-4 (CTLA4) single nucleotide polymorphisms (SNPs) at +49A/G (rs231775) and -318C/T (rs5742909) positions in children with idiopathic nephrotic syndrome (INS) and also assay urinary soluble CTLA4 (sCTLA4) levels in children with minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS) and steroid sensitive nephrotic syndrome (SSNS) in remission.

29968132

2019

dbSNP:

rs3842689

NR1I2

0.010

GeneticVariation

BEFREE

SXR rs3842689: a prognostic factor for steroid sensitivity or resistance in pediatric idiopathic nephrotic syndrome.

27377607

2016

dbSNP:

rs5333

EDNRA

0.010

GeneticVariation

BEFREE

Association of endothelin receptor type A rs5333 gene polymorphism with steroid response in Egyptian children with idiopathic nephrotic syndrome.

30672385

2019

dbSNP:

rs5742909

CTLA4

0.010

GeneticVariation

BEFREE

29968132

2019

dbSNP:

rs747126003

IL6 ; IL6-AS1

0.010

GeneticVariation

BEFREE

IL-6-G174C and TNFα-G308A polymorphisms may affect susceptibility to idiopathic nephrotic syndrome and might affect steroid response in INS patients.

29190601

2017

dbSNP:

rs61747728

NPHS2

0.810

GeneticVariation

CLINVAR

Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.

26138234

2015

dbSNP:

rs61747728

NPHS2

0.810

GeneticVariation

CLINVAR

Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.

23645318

2013

dbSNP:

rs61747728

NPHS2

0.810

GeneticVariation

CLINVAR

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

12464671

2002

dbSNP:

rs61747728

NPHS2

0.810

GeneticVariation

CLINVAR

Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children.

25599733

2015

dbSNP:

rs61747728

NPHS2

0.810

GeneticVariation

CLINVAR

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

20947785

2011

dbSNP:

rs61747728

NPHS2

0.810

GeneticVariation

CLINVAR

Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.

20798252

2010

dbSNP:

rs61747728

NPHS2

0.810

GeneticVariation

CLINVAR

NPHS2 variation in focal and segmental glomerulosclerosis.

18823551

2008

dbSNP:

rs61747728

NPHS2

0.810

GeneticVariation

CLINVAR

Here we present an autosomal-recessive disorder, nephrotic syndrome type 2 (MIM 600995), in which the pathogenicity of an NPHS2 allele encoding p.Arg229Gln depends on the trans-associated mutation.

24509478

2014

dbSNP:

rs61747728

NPHS2

0.810

GeneticVariation

CLINVAR

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

19145239

2009