rs398122937, GJA3

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cataract, Zonular Pulverulent 3
CUI: C1866078
Disease: Cataract, Zonular Pulverulent 3
0.700 CausalMutation CLINVAR
Cataract
CUI: C0086543
Disease: Cataract
0.030 GeneticVariation BEFREE The G143R missense substitution in connexin (Cx) 46 is associated with congenital Coppock cataracts; however, the underlying molecular mechanism is largely unknown. 29298900 2018
Cataract
CUI: C0086543
Disease: Cataract
0.030 GeneticVariation BEFREE The G143R missense mutation on connexin (Cx) 46 was recently reported to be associated with congenital Coppock cataracts. 24019978 2013
Cataract
CUI: C0086543
Disease: Cataract
0.030 GeneticVariation BEFREE Direct sequencing of the candidate gene GJA3 (gap junction protein alpha-3) revealed a c.427G>A transition in exon 2 of GJA3 that co-segregated with the cataract in the family members and was not observed in 100 control patients. 22876138 2012
Bilateral cataracts (disorder)
CUI: C0521707
Disease: Bilateral cataracts (disorder)
0.020 GeneticVariation BEFREE The G143R missense substitution in connexin (Cx) 46 is associated with congenital Coppock cataracts; however, the underlying molecular mechanism is largely unknown. 29298900 2018
Bilateral cataracts (disorder)
CUI: C0521707
Disease: Bilateral cataracts (disorder)
0.020 GeneticVariation BEFREE The G143R missense mutation on connexin (Cx) 46 was recently reported to be associated with congenital Coppock cataracts. 24019978 2013