Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
0.260 Biomarker disease BEFREE In mice, missense mutations and homozygous Gja8 deletions lead to smaller lenses and microphthalmia in addition to cataract, suggesting that Gja8 may play a role in both lens development and ocular growth. 29464339 2019
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
0.260 GeneticVariation disease BEFREE These cases show that deleterious, heterozygous mutations in GJA8 can lead to a severe ocular phenotype of total sclerocornea, abnormal lenses, and/or cataracts with or without microphthalmia, broadening the phenotype associated with this gene. 28455998 2018
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
0.260 GeneticVariation disease BEFREE Variants were found in the crystallin and gap junction genes, including the first report of severe microphthalmia and sclerocornea associated with a novel GJA8 mutation. 26694549 2016
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
0.260 Biomarker disease BEFREE In agreement with other studies, our genetic and histology results showed that impaired GJA8 function caused microphthalmia, small lens size and cataracts. 26912477 2016
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
0.260 GeneticVariation disease BEFREE These findings imply that the Gja8(R205G) mutation differentially impairs the functions of Cx50 and Cx46 to cause cataracts, small lenses and microphthalmia. 23300808 2012
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
0.260 Biomarker disease RGD Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q. 18470322 2008
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
0.260 Biomarker disease BEFREE Cx50-null mice exhibited microphthalmia and nuclear cataracts. 9813099 1998