GJA8, gap junction protein alpha 8, 2703

N. diseases: 82; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510497
Disease: Lens Opacities
Lens Opacities
0.300 Biomarker phenotype CTD_human "A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant ""zonular pulverulent"" cataract, on chromosome 1q." 9497259 1998