PAX2, paired box 2, 5076

N. diseases: 216; N. variants: 29
Disease: Alport Syndrome, X-Linked ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77453353
rs77453353
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1567742
Disease:
Alport Syndrome, X-Linked 		0.010 GeneticVariation 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