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:

rs386833864

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

dbSNP:

rs386833865

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

dbSNP:

rs386833865

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:

rs386833865

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

CausalMutation

CLINVAR

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

18503012

2008

dbSNP:

rs386833865

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

CausalMutation

CLINVAR

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.

9915943

1999

dbSNP:

rs386833865

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

CausalMutation

CLINVAR

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

11726550

2001

dbSNP:

rs386833866

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

dbSNP:

rs386833867

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

dbSNP:

rs386833868

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

dbSNP:

rs386833871

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

dbSNP:

rs386833874

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

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

25349199

2015

dbSNP:

rs386833874

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

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

20172850

2010

dbSNP:

rs386833875

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