| Disease ID | Disease name | Source of annotation with FBLN5 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 123700 | CUTIS LAXA, AUTOSOMAL DOMINANT 1 | ClinVar | link to OMIM | 2 | FBLN5, ELN |
| 219100 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | EFEMP2, FBLN5 |
| PS603075 | MACULAR DEGENERATION, AGE-RELATED | ClinVar, OMIM, HUMSAVAR | link to OMIM | 19 | RAX2, CFB, ERCC6, TLR4, CFHR3, CFHR1, HMCN1, CFI, CFH, C3, HTRA1, ABCA4, CX3CR1, FBLN5, C2, APOE, CST3, ARMS2, C9 |
| 614434 | CUTIS LAXA, AUTOSOMAL DOMINANT 2 | ClinVar, OMIM | link to OMIM | 1 | FBLN5 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Elastic fibre formation | R-HSA-1566948 | 7.49 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| Molecules associated with elastic fibres | R-HSA-2129379 | 7.73 |
| GO term | GO ID | GO IC |
|---|---|---|
| integrin binding | GO:0005178 | 5.07 |
| protein C-terminus binding | GO:0008022 | 4.5 |
| metal ion binding | GO:0046872 | 1.41 |
| cation binding | GO:0043169 | 1.4 |
| ion binding | GO:0043167 | 1.36 |
| cell adhesion molecule binding | GO:0050839 | 4.5 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| protein complex binding | GO:0032403 | 3.09 |
| protein dimerization activity | GO:0046983 | 2.72 |
| protein homodimerization activity | GO:0042803 | 3.16 |
| receptor binding | GO:0005102 | 2.43 |
| identical protein binding | GO:0042802 | 2.63 |
| calcium ion binding | GO:0005509 | 3.17 |