rs397514640, PAX6

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Aniridia
CUI: C0003076
Disease: Aniridia
0.700 CausalMutation CLINVAR
Bilateral microphthalmos
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
Neurofibromatoses
CUI: C0162678
Disease: Neurofibromatoses
0.010 GeneticVariation BEFREE A novel PAX6 missense mutation (p.R38W) was inherited from her mother whose iris phenotype had not been evident because of ocular neurofibromatosis. 17406642 2007
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.010 GeneticVariation BEFREE A novel PAX6 missense mutation (p.R38W) was inherited from her mother whose iris phenotype had not been evident because of ocular neurofibromatosis. 17406642 2007