rs398122937, GJA3

N. diseases: 3
Disease: Bilateral cataracts (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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