COL8A2, collagen type VIII alpha 2 chain, 1296

N. diseases: 35; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850959
Disease: Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 1 		0.720 Biomarker disease CTD_human
CUI: C1850959
Disease: Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 1 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1850959
Disease: Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 1 		0.720 CausalMutation disease CLINVAR
CUI: C1852795
Disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1852795
Disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 		0.700 Biomarker disease CTD_human
CUI: C1852795
Disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 		0.700 CausalMutation disease CLINVAR
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.150 Biomarker disease HPO
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		0.100 Biomarker phenotype HPO
CUI: C0155116
Disease: Descemet's membrane fold
Descemet's membrane fold 		0.100 Biomarker disease HPO
CUI: C0155118
Disease: Corneal degeneration
Corneal degeneration 		0.100 Biomarker disease HPO
CUI: C0271288
Disease: Corneal guttata
Corneal guttata 		0.100 Biomarker disease HPO
CUI: C0474444
Disease: Corneal stromal edema
Corneal stromal edema 		0.100 Biomarker phenotype HPO
CUI: C1850959
Disease: Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 1 		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
CUI: C1850959
Disease: Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 1 		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
CUI: C1852795
Disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 		0.700 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
CUI: C1852795
Disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 		0.700 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
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.340 GermlineCausalMutation disease ORPHANET Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 11689488 2001
CUI: C0544008
Disease: Chandler syndrome
Chandler syndrome 		0.010 GeneticVariation disease BEFREE Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 11689488 2001
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		0.010 GeneticVariation disease BEFREE Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 11689488 2001
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 GeneticVariation group BEFREE We assessed the associations of the C807T and Glu505Lys variants of the glycoprotein Ia (alpha(2) integrin) subunit of the platelet/endothelial collagen receptor and risk of retinopathy in a population-based survey of 288 diabetic patients in one Swedish community. 12540964 2003
CUI: C1562689
Disease: Congenital hereditary endothelial dystrophy
Congenital hereditary endothelial dystrophy 		0.010 GeneticVariation disease BEFREE Multiple relatives were affected with PPMD with apparent autosomal dominant inheritance, but surprisingly, the PPMD, congenital hereditary endothelial dystrophy 1 (CHED1) and CHED2 loci on chromosome 20 and the collagen, type VIII, alpha-2 (COL8A2) gene were excluded by linkage and haplotype analyses. 12654361 2003
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE The R155Q and T502M mutations of COL8A2 may not be the causative defect in the Japanese FECD and PPMD patients examined in this study. 15175909 2004
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.150 GeneticVariation disease BEFREE To determine whether Japanese patients with Fuchs' endothelial corneal dystrophy (FECD) and posterior polymorphous dystrophy (PPMD) carry mutations in the COL8A2 gene, and to investigate the possible pathogenicity of the COL8A2 gene in these corneal dystrophies. 15175909 2004
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.340 GeneticVariation disease BEFREE We mapped a new locus responsible for PPCD in a family in which we excluded the previously reported PPCD locus on 20q11, and the region containing COL8A2 on chromosome 1. 15384081 2004
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.340 GeneticVariation disease BEFREE The initial 3 genes chosen, ID1, BCL2L1, and VSX1, lie within the region on chromosome 20 to which the PPCD gene has been linked, and mutations in VSX1 have previously been identified in patients with PPCD. 15725882 2005