Disease ID | Disease name | Source of annotation with COL8A2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS122000 | CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | OVOL2, ZEB1, VSX1, COL8A2 |
PS136800 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 5 | SLC4A11, AGBL1, ZEB1, COL8A2, TCF4 |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Integrin cell surface interactions | R-HSA-216083 | 6.57 |
Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
Collagen degradation | R-HSA-1442490 | 7.03 |
Extracellular matrix organization | R-HSA-1474244 | 4.91 |
Collagen formation | R-HSA-1474290 | 6.56 |
Assembly of collagen fibrils and other multimeric structures | R-HSA-2022090 | 7.2 |
Collagen biosynthesis and modifying enzymes | R-HSA-1650814 | 6.98 |
GO term | GO ID | GO IC |
---|---|---|
protein binding, bridging | GO:0030674 | 4.68 |
extracellular matrix structural constituent | GO:0005201 | 5.37 |
structural molecule activity | GO:0005198 | 3.1 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
binding, bridging | GO:0060090 | 4.57 |