PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
Disease: Bilateral microphthalmos ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131692286
rs1131692286
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C1843496
Disease:
Bilateral microphthalmos 		0.010 GeneticVariation BEFREE Seven altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. 31700164 2020