| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.180 | GeneticVariation | disease | BEFREE | We reported a case of co-presence of LMX1B and PAX2 variants in a child with extrarenal manifestation of NPS and end-stage renal disease but congenital bilateral renal hypodysplasia and vesicoureteral reflux. | 29973660 | 2018 | ||||
|
0.180 | AlteredExpression | disease | BEFREE | The significance of Pax2 expression in the ureter epithelium of children with vesicoureteric reflux. | 25912758 | 2015 | ||||
|
0.180 | GeneticVariation | disease | 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 | ||||
|
0.180 | Biomarker | disease | BEFREE | Vesicoureteral reflux and other urinary tract malformations in mice compound heterozygous for Pax2 and Emx2. | 21731775 | 2011 | ||||
|
0.180 | AlteredExpression | disease | BEFREE | Although renal-coloboma syndrome involves both ocular and renal anomalies, some patients are affected with vesico-ureteral reflux (VUR), high frequency hearing loss, central nervous system (CNS) anomalies, and/or genital anomalies, consistent with the expression of PAX2 in these tissues during development. | 10466411 | 1999 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Absence of PAX2 gene mutations in patients with primary familial vesicoureteric reflux. | 9598733 | 1998 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | The PAX2 gene is mutated in patients with ocular colobomas, vesicoureteral reflux (VUR), and kidney anomalies (renal-coloboma syndrome, OMIM 120330). | 9783702 | 1998 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | We have conducted a mutational analysis of PAX2 in a family with optic nerve colobomas, renal hypoplasia, mild proteinuria and vesicoureteral reflux. | 7795640 | 1995 | ||||
|
0.180 | Biomarker | disease | HPO |