Gene: PAX2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5076
Gene Symbol: PAX2
PAX2 		0.010 GeneticVariation disease BEFREE The patient's findings of coloboma and renal dysfunction suggested that she had RCS, and genetic analysis revealed a PAX2 heterozygous mutation in exon 2 (c.76dup, p.Val26Glyfsx27) without any mutations of COL4A3, COL4A4, and COL4A5, which are responsible for autosomal and X-linked Alport syndrome. 22350371 2012