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:

rs386833921

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

TGG

0.700

GeneticVariation

CLINVAR

dbSNP:

rs386833921

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

TGG

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057516637

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs386833937

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

TCC

0.700

GeneticVariation

CLINVAR

dbSNP:

rs34124941

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

CLINVAR

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

28117080

2017

dbSNP:

rs1131692245

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs191807913

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

dbSNP:

rs386833861

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

dbSNP:

rs386833862

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

dbSNP:

rs386833879

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.

11854170

2002

dbSNP:

rs386833879

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.

26560236

2016

dbSNP:

rs386833879

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

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

20507940

2010

dbSNP:

rs386833880

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

CausalMutation

CLINVAR

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

20507940

2010

dbSNP:

rs386833880

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

CausalMutation

CLINVAR

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

18614772

2008

dbSNP:

rs386833880

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

CausalMutation

CLINVAR

Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.

11854170

2002

dbSNP:

rs386833880

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.

21415313

2011

dbSNP:

rs386833880

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

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

20507940

2010

dbSNP:

rs386833880

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.

11854170

2002

dbSNP:

rs386833880

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.

18503012

2008

dbSNP:

rs386833880

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.

19194555

2009

dbSNP:

rs386833880

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

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

18614772

2008

dbSNP:

rs386833880

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome.

15780077

2005

dbSNP:

rs386833880

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

CausalMutation

CLINVAR

Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.

19194555

2009

dbSNP:

rs386833880

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

CausalMutation

CLINVAR

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

20172850

2010

dbSNP:

rs386833880

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

11317351

2001