GJA3, gap junction protein alpha 3, 2700

N. diseases: 40; N. variants: 15
Disease: Congenital lamellar cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266537
Disease: Congenital lamellar cataract
Congenital lamellar cataract 		0.110 GeneticVariation disease BEFREE We have identified a recurrent mutation in GJA3 in a large British pedigree causing the novel phenotype of autosomal-dominant congenital lamellar cataract. 29934635 2018
CUI: C0266537
Disease: Congenital lamellar cataract
Congenital lamellar cataract 		0.110 Biomarker disease HPO