DisGeNET - a database of gene-disease associations

NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189

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:

rs962888148

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C3501848
Disease:

Nephrosis, congenital

0.010

GeneticVariation

BEFREE

Here, we have characterized a novel nephrin sequence variant, A419T, which is expressed along with C623F in a patient presenting with CNS.

30212551

2018

dbSNP:

rs926025297

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

UNIPROT

dbSNP:

rs786204729

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

CLINVAR

Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.

19406966

2009

dbSNP:

rs786204729

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

CLINVAR

Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy.

23949594

2013

dbSNP:

rs781584590

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

CLINVAR

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).

20172850

2010

dbSNP:

rs778552202

Entrez Id:	4868;84063
Gene Symbol:	NPHS1;KIRREL2

NPHS1;KIRREL2

CUI:	C3501848
Disease:

Nephrosis, congenital

0.010

GeneticVariation

BEFREE

The genetic evaluation revealed a heterozygous variant in NPHS1 (p.Arg207Trp), in NPHS2 (p.Ser95Phe) as well as in PLCE1 (p.Ala1045Ser) and did not explain CNS.

29663071

2018

dbSNP:

rs778217926

Entrez Id:	4868;84063
Gene Symbol:	NPHS1;KIRREL2

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

CLINVAR

Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy.

23949594

2013

dbSNP:

rs778217926

Entrez Id:	4868;84063
Gene Symbol:	NPHS1;KIRREL2

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

CLINVAR

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.

20507940

2010

dbSNP:

rs772979927

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs771953692

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs767887213

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

CLINVAR

Interaction with podocin facilitates nephrin signaling.

11562357

2001

dbSNP:

rs763972372

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

CLINVAR

Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome.

25729976

2015

dbSNP:

rs763972372

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

CLINVAR

Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome.

28392951

2017

dbSNP:

rs763972372

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

CLINVAR

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

25349199

2015

dbSNP:

rs763972372

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

CLINVAR

Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome.

25501161

2014

dbSNP:

rs763972372

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

CLINVAR

Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.

28204945

2017

dbSNP:

rs763972372

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

CLINVAR

[NPHS1 mutations in a Chinese family with congenital nephrotic syndrome].

16316524

2005

dbSNP:

rs763972372

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C3501848
Disease:

Nephrosis, congenital

0.010

GeneticVariation

BEFREE

The novel splice site mutation of IVS11+1G>A and a missense mutation at c.928G>A in NPHS1 were found to cause CNS in this Chinese child.

25729976

2015

dbSNP:

rs763162233

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

UNIPROT

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.

25804400

2015

dbSNP:

rs763162233

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

UNIPROT

A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.

22565185

2012

dbSNP:

rs763162233

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

UNIPROT

Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.

22009864

2011

dbSNP:

rs763162233

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

UNIPROT

A familial childhood-onset relapsing nephrotic syndrome.

17290294

2007

dbSNP:

rs763162233

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

UNIPROT

Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.

11726550

2001

dbSNP:

rs763162233

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

UNIPROT

Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.

10652016

2000

dbSNP:

rs763162233

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

UNIPROT

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.

18614772

2008