GJA3, gap junction protein alpha 3, 2700

N. diseases: 40; N. variants: 15
Disease: CATARACT, MARNER TYPE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861821
Disease: CATARACT, MARNER TYPE
CATARACT, MARNER TYPE 		0.110 GeneticVariation disease BEFREE Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract. 29934635 2018
CUI: C1861821
Disease: CATARACT, MARNER TYPE
CATARACT, MARNER TYPE 		0.110 Biomarker disease HPO