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: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.340 Biomarker disease BEFREE PPCD is characterized by a cadherin-switch and transition to an epithelial-like transcriptomic and cellular phenotype, which we study in a cell-based model of PPCD generated using CRISPR-Cas9-mediated ZEB1 knockout in corneal endothelial cells (CEnCs). 31194824 2019
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. 18464802 2009
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy. 25007886 2014
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness 		0.100 GeneticVariation phenotype GWASCAT Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. 29760442 2018
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.150 GeneticVariation disease BEFREE Distinct Clinical Phenotype of Corneal Dystrophy Predicts the p.(Leu450Trp) Substitution in COL8A2. 26989952 2016
CUI: C1850959
Disease: Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 1 		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
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis 		0.010 Biomarker disease BEFREE Esophageal transcript profiling identified a distinct subset of genes, including COL8A2, in patients with EoE and CTDs. 23608731 2013
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.010 Biomarker group BEFREE Esophageal transcript profiling identified a distinct subset of genes, including COL8A2, in patients with EoE and CTDs. 23608731 2013
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.010 Biomarker disease BEFREE Further study of COL8A2 variants in other patient populations, especially those with thinner CCT such as African-Americans would provide further support for a role of COL8A2 in corneal thickness and in glaucoma. 21139683 2010
CUI: C0524957
Disease: Corneal Topography
Corneal Topography 		0.100 GeneticVariation phenotype GWASDB Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. 23291589 2013
CUI: C0524957
Disease: Corneal Topography
Corneal Topography 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. 23291589 2013
CUI: C0040420
Disease: Tonometry
Tonometry 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 Biomarker disease BEFREE However, linkage, association and familial segregation analyses support a role of only one gene in each corneal endothelial dystrophy: ZEB1 in PPCD3, SLC4A11 in CHED2 and COL8A2 in FECD (early onset). 23662738 2013