Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation BEFREE These results expand the phenotypic spectrum associated with PAX2 mutations, which have been shown to lead to congenital abnormalities of the kidney and urinary tract as part of papillorenal syndrome. 24676634

2014

Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation BEFREE PAX2 polymorphisms and congenital abnormalities of the kidney and urinary tract in a Brazilian pediatric population: evidence for a role in vesicoureteral reflux. 24633556

2014

Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation BEFREE The objective of this study was to screen the PAX8 gene and the PAX2 gene in a family with six cases of CH spanning three generations and presenting urogenital malformations. 23647375

2013

Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker BEFREE Therefore, we suggest PAX2 molecular analysis to be extended to all patients with congenital malformations of kidney and urinary tract (CAKUT). 21108633

2011

Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker BEFREE Vesicoureteral reflux and other urinary tract malformations in mice compound heterozygous for Pax2 and Emx2. 21731775

2011

Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker BEFREE We now show that p57 is expressed predominantly in the subcommissural organ and cerebellar interneurons in the mouse brain and that mice with brain-specific deletion of the p57 gene (Kip2) manifest prominent nonobstructive hydrocephalus as well as cerebellar malformation associated with the loss of Pax2-positive interneuron precursors and their descendants, including Golgi cells and γ-aminobutyric acid-containing neurons of the deep cerebellar nuclei. 21844226

2011

Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation BEFREE The association of optic nerve and renal malformations should lead to the suspicion of papillorenal syndrome with PAX2 mutation. 18609495

2008

Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation BEFREE PAX2 mutations cause renal-coloboma syndrome (RCS), a rare multi-system developmental abnormality involving optic nerve colobomas and renal abnormalities. 10587573

2000

Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation BEFREE No significant linkage was found to 6p, where a renal and ureteric malformation locus has been reported, or to PAX2, mutations of which cause VUR in renal-coloboma syndrome. 10739767

2000

Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 GeneticVariation BEFREE The homoguanine tract in PAX2 is a hot spot for spontaneous expansion or contraction mutations and demonstrates the importance of homonucleotide tract mutations in human malformation syndromes. 10533062

1999