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:

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:

rs437168

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0035078
Disease:

Kidney Failure

0.010

GeneticVariation

BEFREE

Two synonymous NPHS1 polymorphisms, rs2285450 (c.294C>T) and rs437168 (c.2289C>T) segregated with renal failure in this family.

26147534

2015

dbSNP:

rs437168

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0035078
Disease:

Kidney Failure

0.010

GeneticVariation

BEFREE

Two synonymous NPHS1 polymorphisms, rs2285450 (c.294C>T) and rs437168 (c.2289C>T) segregated with renal failure in this family.

26147534

2015

dbSNP:

rs2285450

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

NPHS1;KIRREL2

CUI:	C0035078
Disease:

Kidney Failure

0.010

GeneticVariation

BEFREE

Two synonymous NPHS1 polymorphisms, rs2285450 (c.294C>T) and rs437168 (c.2289C>T) segregated with renal failure in this family.

26147534

2015

dbSNP:

rs138656762

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs139598219

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs142008044

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs143092783

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs267606917

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs386833861

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs386833862

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs386833863

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs386833864

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs386833865

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs386833866

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs386833867

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs386833868

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs386833871

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs386833874

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs386833875

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs386833879

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs386833880

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs386833881

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs386833884

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011

dbSNP:

rs386833885

Entrez Id:	4868
Gene Symbol:	NPHS1

NPHS1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22009864

2011