DisGeNET - a database of gene-disease associations

KIRREL2, kirre like nephrin family adhesion molecule 2, 84063

N. diseases: 6; N. variants: 37

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:

rs139598219

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

26560236

2016

dbSNP:

rs386833897

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

26560236

2016

dbSNP:

rs386833929

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

26560236

2016

dbSNP:

rs386833934

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

26560236

2016

dbSNP:

rs386833945

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

26560236

2016

dbSNP:

rs386833946

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

26560236

2016

dbSNP:

rs386833949

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

26560236

2016

dbSNP:

rs139598219

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

25804400

2015

dbSNP:

rs386833897

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

25804400

2015

dbSNP:

rs386833929

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

25804400

2015

dbSNP:

rs386833934

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

25804400

2015

dbSNP:

rs386833945

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

25804400

2015

dbSNP:

rs386833946

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

25804400

2015

dbSNP:

rs386833949

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

25804400

2015

dbSNP:

rs139598219

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

CLINVAR

Rituximab treatment for recurrence of nephrotic syndrome in a pediatric patient after renal transplantation for congenital nephrotic syndrome of Finnish type.

21672106

2012

dbSNP:

rs139598219

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

22732337

2012

dbSNP:

rs139598219

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22565185

2012

dbSNP:

rs386833897

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

22732337

2012

dbSNP:

rs386833897

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22565185

2012

dbSNP:

rs386833929

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22565185

2012

dbSNP:

rs386833929

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

22732337

2012

dbSNP:

rs386833934

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22565185

2012

dbSNP:

rs386833934

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

22732337

2012

dbSNP:

rs386833945

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

22732337

2012

dbSNP:

rs386833945

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

NPHS1;KIRREL2

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.800

GeneticVariation

UNIPROT

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

22565185

2012