COL8A2, collagen type VIII alpha 2 chain, 1296

N. diseases: 35; N. variants: 13
Disease: Corneal dystrophy, Fuchs' endothelial, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358191
rs80358191
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
CUI: C1850959
Disease:
Corneal dystrophy, Fuchs' endothelial, 1 		0.810 GeneticVariation 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
dbSNP: rs80358191
rs80358191
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
CUI: C1850959
Disease:
Corneal dystrophy, Fuchs' endothelial, 1 		0.810 GeneticVariation UNIPROT Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 11689488 2001
dbSNP: rs80358191
rs80358191
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
CUI: C1850959
Disease:
Corneal dystrophy, Fuchs' endothelial, 1 		T 0.810 CausalMutation CLINVAR
dbSNP: rs369487110
rs369487110
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
CUI: C1850959
Disease:
Corneal dystrophy, Fuchs' endothelial, 1 		0.700 GeneticVariation UNIPROT Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 11689488 2001
dbSNP: rs145553904
rs145553904
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
CUI: C1850959
Disease:
Corneal dystrophy, Fuchs' endothelial, 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs199786966
rs199786966
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
CUI: C1850959
Disease:
Corneal dystrophy, Fuchs' endothelial, 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs201235688
rs201235688
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
CUI: C1850959
Disease:
Corneal dystrophy, Fuchs' endothelial, 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs727504229
rs727504229
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
CUI: C1850959
Disease:
Corneal dystrophy, Fuchs' endothelial, 1 		AC 0.700 CausalMutation CLINVAR
dbSNP: rs80358192
rs80358192
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
CUI: C1850959
Disease:
Corneal dystrophy, Fuchs' endothelial, 1 		C 0.700 CausalMutation CLINVAR