GJA8, gap junction protein alpha 8, 2703

N. diseases: 82; N. variants: 21
Disease: Microcornea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266544
Disease: Microcornea
Microcornea 		0.150 GeneticVariation disease BEFREE This work provides molecular insights to understand the cataract and microphthalmia/microcornea phenotype caused by Gja8 mutations in mice and humans. 23300808 2012
CUI: C0266544
Disease: Microcornea
Microcornea 		0.150 GeneticVariation disease BEFREE Mutations in GJA8 and CRYAA were identified in three families with cataract and microcornea. 21686328 2011
CUI: C0266544
Disease: Microcornea
Microcornea 		0.150 GeneticVariation disease BEFREE The result expands the mutation spectrum of GJA8 in associated with congenital cataract and microcornea, and implies that this gene has direct involvement with the development of the lens as well as the other anterior segment of the eye. 20806042 2010
CUI: C0266544
Disease: Microcornea
Microcornea 		0.150 GeneticVariation disease BEFREE These findings further expand the mutation spectrum of connexin 50 (Cx50) in association with congenital cataract and microcornea. 18334946 2008
CUI: C0266544
Disease: Microcornea
Microcornea 		0.150 GeneticVariation disease BEFREE This is the first report of mutations in GJA8 to be associated with autosomal dominant cataract and microcornea. 16604058 2006
CUI: C0266544
Disease: Microcornea
Microcornea 		0.150 Biomarker disease HPO
CUI: C0266544
Disease: Microcornea
Microcornea 		0.150 CausalMutation disease CLINVAR