Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation LHGDN We report a p.P88Q mutation in GJA8 associated with Y-sutural cataract in a family of Indian origin. 18587493

2008
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation LHGDN Mutation screening was performed in the cataract candidate genes coding for crystallins and connexin 50 by sequencing of polymerase chain reaction (PCR) products amplified from blood leukocyte DNA samples of eight family members. 18334966

2008
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation LHGDN Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 17724170

2007
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation LHGDN The cataract locus in this family constellation was mapped to 1q21.1 and 21.44 cM interval between D1S2344 and D1S2844, which were known to flank the gene coding Connexin 50 (Cx50) or gap junction protein alpha-8 (GJA8). 15696487

2005