PAX2, paired box 2, 5076

N. diseases: 216; N. variants: 29
Disease: Retinal defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0154823
Disease: Retinal defect
Retinal defect 		0.010 GeneticVariation phenotype BEFREE Heterozygous Pax2 mutants in mice are characterized by renal hypoplasia and retinal defects, and in humans, PAX2 mutations have been described in the renal-coloboma syndrome. 11168927 2001