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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 Biomarker disease BEFREE In conclusion, atRA protects HCC cells against serum-starvation-induced cell death by enhancing cell adhesion, and COL8A2 plays an important role in HCC cell migration and invasion. 23298258 2013
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE In conclusion, atRA protects HCC cells against serum-starvation-induced cell death by enhancing cell adhesion, and COL8A2 plays an important role in HCC cell migration and invasion. 23298258 2013
CUI: C0342895
Disease: Fish-Eye Disease
Fish-Eye Disease 		0.010 GeneticVariation disease BEFREE In conclusion, variation in TCF4, CLU and TGFBI, but not PTPRG, ZEB1 and COL8A2 genes are associated with FED in Caucasian Australian cases. 22234156 2012
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		0.020 GeneticVariation disease BEFREE In the L450W mutant, Descemet's membrane was several times thicker than normal and traversed by refractile strands and blebs that stained intensely for COL8A2, a feature also observed in late-onset FCD. 16303941 2005
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy. 15914606 2005
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE Investigated were samples of a normal tissue and a tissue with Fuchs' endothelial dystrophy (FECD, cornea Guttata). 30481279 2018
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: 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: 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: C1857800
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2 		0.010 GeneticVariation disease BEFREE No mutations were identified in COL8A2, in neither the late-onset cohort nor the early-onset family, suggesting genetic heterogeneity in this FECD family. 25007886 2014
CUI: C1852555
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT 		0.010 GeneticVariation disease BEFREE No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy. 15851557 2005
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.340 GeneticVariation disease BEFREE No pathogenic mutations were identified in the COL8A2 gene or in several positional candidate genes in a series of patients with PPCD, indicating that other genetic factors are involved in the development of this autosomal dominant corneal dystrophy. 15851557 2005
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.150 GeneticVariation disease BEFREE No pathogenic mutations were identified in the COL8A2 gene or in several positional candidate genes in a series of patients with PPCD, indicating that other genetic factors are involved in the development of this autosomal dominant corneal dystrophy. 15851557 2005
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		0.010 Biomarker disease BEFREE No sequence variations were identified in COL8A1 and COL8A2 in the 2 patients with keratoglobus. 17721297 2007
CUI: C3887531
Disease: Keratoglobus
Keratoglobus 		0.010 Biomarker disease BEFREE No sequence variations were identified in COL8A1 and COL8A2 in the 2 patients with keratoglobus. 17721297 2007
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.010 AlteredExpression disease BEFREE No significant increase in COL8A1 and COL8A2 mRNAs expression was found in biopsies from patients with BNS and FSGS compared with normal kidneys. 17888087 2007
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 AlteredExpression disease BEFREE Our results reveal several new candidate genes not previously associated with OA to display significantly higher expression in OA cartilage than in normal donor cartilage, including genes involved in bone formation (CLEC3B, CDH11, GPNMB, CLEC3A, CHST11, MSX1, MSX2) and genes encoding collagens (COL13A1, COL14A1, COL15A1, COL8A2). 20060954 2010
CUI: C0474441
Disease: Fine corneal edema
Fine corneal edema 		0.010 GeneticVariation disease BEFREE Peripheral, anterior microcystic corneal edema represents a characteristic aspect of the phenotype associated with the p.(Leu450Trp) substitution in COL8A2, in at least 2 of 3 known affected families worldwide. 26989952 2016
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GermlineCausalMutation disease ORPHANET Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. 18464802 2009
CUI: C1850959
Disease: Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 1 		0.720 Biomarker disease GENOMICS_ENGLAND Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. 18464802 2009