PAX2, paired box 2, 5076

N. diseases: 216; N. variants: 29
Disease: Hearing Loss, High-Frequency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018780
Disease: Hearing Loss, High-Frequency
Hearing Loss, High-Frequency 		0.010 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