PAX2, paired box 2, 5076

N. diseases: 216; N. variants: 29
Disease: Coloboma of optic disc ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037756
rs886037756
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0155299
Disease:
Coloboma of optic disc 		TGTGAACC 0.700 CausalMutation CLINVAR Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. 26571382 2015