DisGeNET - a database of gene-disease associations

PAX2, paired box 2, 5076

N. diseases: 216; N. variants: 29

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:

rs1131692055

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C4014925
Disease:

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1554856032

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C4014925
Disease:

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7

0.800

GeneticVariation

UNIPROT

Mutations in PAX2 associate with adult-onset FSGS.

24676634

2014

dbSNP:

rs587777708

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C4014925
Disease:

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7

0.800

GeneticVariation

UNIPROT

Mutations in PAX2 associate with adult-onset FSGS.

24676634

2014

dbSNP:

rs79555199

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C1852759
Disease:

Papillorenal syndrome

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.

21326282

2011

dbSNP:

rs104894170

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C1852759
Disease:

Papillorenal syndrome

0.700

GeneticVariation

UNIPROT

Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).

9760197

1998

dbSNP:

rs104894170

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C1852759
Disease:

Papillorenal syndrome

0.700

GeneticVariation

UNIPROT

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

22213154

2012

dbSNP:

rs104894170

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C1852759
Disease:

Papillorenal syndrome

0.700

GeneticVariation

UNIPROT

Mutations in PAX2 associate with adult-onset FSGS.

24676634

2014

dbSNP:

rs104894170

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C1852759
Disease:

Papillorenal syndrome

0.700

GeneticVariation

UNIPROT

A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation.

19954729

2009

dbSNP:

rs104894170

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C1852759
Disease:

Papillorenal syndrome

0.700

GeneticVariation

UNIPROT

PAX2 mutations in oligomeganephronia.

11168927

2001

dbSNP:

rs104894170

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C1852759
Disease:

Papillorenal syndrome

0.700

GeneticVariation

UNIPROT

Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation.

15652857

2005

dbSNP:

rs10748798

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C0007222
Disease:

Cardiovascular Diseases

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs10883543

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs1201078720

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C4014925
Disease:

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7

0.700

GeneticVariation

UNIPROT

Mutations in PAX2 associate with adult-onset FSGS.

24676634

2014

dbSNP:

rs1403345811

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C1852759
Disease:

Papillorenal syndrome

0.700

GeneticVariation

UNIPROT

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

22213154

2012

dbSNP:

rs1403345811

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C1852759
Disease:

Papillorenal syndrome

0.700

GeneticVariation

UNIPROT

Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation.

15652857

2005

dbSNP:

rs1403345811

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C1852759
Disease:

Papillorenal syndrome

0.700

GeneticVariation

UNIPROT

Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).

9760197

1998

dbSNP:

rs1403345811

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C1852759
Disease:

Papillorenal syndrome

0.700

GeneticVariation

UNIPROT

Mutations in PAX2 associate with adult-onset FSGS.

24676634

2014

dbSNP:

rs1403345811

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C1852759
Disease:

Papillorenal syndrome

0.700

GeneticVariation

UNIPROT

A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation.

19954729

2009

dbSNP:

rs1403345811

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C1852759
Disease:

Papillorenal syndrome

0.700

GeneticVariation

UNIPROT

PAX2 mutations in oligomeganephronia.

11168927

2001

dbSNP:

rs370214925

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C4014925
Disease:

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7

0.700

GeneticVariation

UNIPROT

Mutations in PAX2 associate with adult-onset FSGS.

24676634

2014

dbSNP:

rs893370744

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C1852759
Disease:

Papillorenal syndrome

0.700

GeneticVariation

UNIPROT

dbSNP:

rs104894170

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C4520679
Disease:

Abnormal macular morphology

0.010

GeneticVariation

BEFREE

A new PAX2 missense mutation, R71T, may cause macular abnormalities in addition to anomalies of the optic disk and the kidney.

15652857

2005

dbSNP:

rs1131692055

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C0017668
Disease:

Focal glomerulosclerosis

0.010

GeneticVariation

BEFREE

Generation of two isogenic iPS cell lines (IRFMNi002-A and IRFMNi002-B) from a patient affected by Focal Segmental Glomerulosclerosis carrying a heterozygous c.565G>A mutation in PAX2 gene.

30399566

2018

dbSNP:

rs1800897

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C0034152
Disease:

Henoch-Schoenlein Purpura

0.010

GeneticVariation

BEFREE

The PAX2 heterozygous genotype 798C>T did not increase susceptibility to H</span>SP, however, it may be used clinically as a screening indicator for HSP in children with a high risk of renal involvement.

25385517

2015

dbSNP:

rs1800897

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C0027697
Disease:

Nephritis

0.010

GeneticVariation

BEFREE

However, the frequency of the PAX2 heterozygous genotype 798C>T in the HSP with nephritis (HSPN) group was significantly higher than those in the controls and in the HSP without nephritis group (P<0.05).

25385517

2015