PAX2, paired box 2, 5076

N. diseases: 216; N. variants: 29
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037754
rs886037754
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0151746
Disease:
Abnormal renal function
A 0.700 CausalMutation CLINVAR Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. 26571382 2015