DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Idiopathic Nephrotic Syndrome ×

Variant: rs748812981 ×

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:

rs748812981

NPHS2

CUI:	C3496337
Disease:	Idiopathic Nephrotic Syndrome

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs748812981

NPHS2

CUI:	C3496337
Disease:	Idiopathic Nephrotic Syndrome

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

CLINVAR

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

25349199

2015

dbSNP:

rs748812981

NPHS2

CUI:	C3496337
Disease:	Idiopathic Nephrotic Syndrome

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

CLINVAR

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

24509478

2014

dbSNP:

rs748812981

NPHS2

CUI:	C3496337
Disease:	Idiopathic Nephrotic Syndrome

Idiopathic Nephrotic Syndrome

0.800

CausalMutation

CLINVAR

NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.

24072147

2013

dbSNP:

rs748812981

NPHS2

CUI:	C3496337
Disease:	Idiopathic Nephrotic Syndrome

Idiopathic Nephrotic Syndrome

0.800

CausalMutation

CLINVAR

Genetic screening in adolescents with steroid-resistant nephrotic syndrome.

23515051

2013

dbSNP:

rs748812981

NPHS2

CUI:	C3496337
Disease:	Idiopathic Nephrotic Syndrome

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

CLINVAR

Genetic screening in adolescents with steroid-resistant nephrotic syndrome.

23515051

2013

dbSNP:

rs748812981

NPHS2

CUI:	C3496337
Disease:	Idiopathic Nephrotic Syndrome

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

CLINVAR

NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.

24072147

2013

dbSNP:

rs748812981

NPHS2

CUI:	C3496337
Disease:	Idiopathic Nephrotic Syndrome

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

CLINVAR

Anemia in congenital nephrotic syndrome: role of urinary copper and ceruloplasmin loss.

21636722

2011

dbSNP:

rs748812981

NPHS2

CUI:	C3496337
Disease:	Idiopathic Nephrotic Syndrome

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

CLINVAR

Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients.

16810518

2006

dbSNP:

rs748812981

NPHS2

CUI:	C3496337
Disease:	Idiopathic Nephrotic Syndrome

Idiopathic Nephrotic Syndrome

0.800

CausalMutation

CLINVAR

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

14675423

2004

dbSNP:

rs748812981

NPHS2

CUI:	C3496337
Disease:	Idiopathic Nephrotic Syndrome

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

CLINVAR

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

14675423

2004

dbSNP:

rs748812981

NPHS2

CUI:	C3496337
Disease:	Idiopathic Nephrotic Syndrome

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

CLINVAR

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

15253708

2004

dbSNP:

rs748812981

NPHS2

CUI:	C3496337
Disease:	Idiopathic Nephrotic Syndrome

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

UNIPROT