GJA8, gap junction protein alpha 8, 2703

N. diseases: 82; N. variants: 21
Disease: Congenital total cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		0.300 GermlineCausalMutation disease ORPHANET Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract. 17601931 2007