Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.720 GeneticVariation disease BEFREE Due to abnormalities in ECM protein composition and structure in FECD, the stiffness of DM in Col8a2 knock-in mice and wildtype (WT) controls was measured using atomic force microscopy at 5 and 10 months of age, coinciding with the onset of FECD phenotypic abnormalities. 30471280 2019
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.720 GeneticVariation disease BEFREE To investigate the endothelial gene expression profile in a Col8a2 Q455K mutant knock-in mouse model of early-onset Fuchs' endothelial corneal dystrophy (FECD) and identify potential targets that can be correlated to human late-onset FECD. 23449721 2013
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.720 CausalMutation disease CLINVAR
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.720 Biomarker disease CTD_human
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.720 GeneticVariation disease UNIPROT Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 11689488 2001
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.720 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.720 Biomarker disease GENOMICS_ENGLAND Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 11689488 2001
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.720 Biomarker disease GENOMICS_ENGLAND Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. 18464802 2009