GJA8, gap junction protein alpha 8, 2703

N. diseases: 82; N. variants: 21
Disease: Cataract, Central Saccular, With Sutural Opacities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854021
Disease: Cataract, Central Saccular, With Sutural Opacities
Cataract, Central Saccular, With Sutural Opacities 		0.300 GermlineCausalMutation disease ORPHANET "A mutation in GJA8 (p.P88Q) is associated with ""balloon-like"" cataract with Y-sutural opacities in a family of Indian origin." 18587493 2008