GJA8, gap junction protein alpha 8, 2703

N. diseases: 82; N. variants: 21
Disease: Sclerocornea, Autosomal Dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866984
Disease: Sclerocornea, Autosomal Dominant
Sclerocornea, Autosomal Dominant 		0.300 GermlineCausalMutation disease ORPHANET New mutations in GJA8 expand the phenotype to include total sclerocornea. 28455998 2018