GJA8, gap junction protein alpha 8, 2703

N. diseases: 82; N. variants: 21
Disease: Cataract microcornea syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.610 GermlineCausalMutation disease ORPHANET This report is the first to relate p.R198W mutation in GJA8 with CCMC. 20806042 2010
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.610 GeneticVariation disease BEFREE This report is the first to relate p.R198W mutation in GJA8 with CCMC. 20806042 2010
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.610 Biomarker disease GENOMICS_ENGLAND Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 17724170 2007
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.610 GermlineCausalMutation disease ORPHANET Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 17724170 2007
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.610 Biomarker disease CTD_human Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. 16604058 2006
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.610 Biomarker disease GENOMICS_ENGLAND