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PAX2

paired box 2

HCNC Approved Symbol
PAX2 (HGNC:8616)
Genomic Coordinates
10:100,735,396 - 100,829,944 (10q24.31)
Synonyms
PAX-2
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

32Patients

In total, 32 patients were diagnosed with a variant in the PAX2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Proteinuria
 9 (28.1%)
End stage renal disease
 5 (15.6%)
Azotemia
 
3 (9.4%)
Morning glory anomaly
 
3 (9.4%)
Chronic kidney disease
 
3 (9.4%)
PAX2 - Gene browser | 3billion