| Disease ID | Disease name | Source of annotation with LTBP2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 177650 | EXFOLIATION SYNDROME | ClinVar | link to OMIM | 2 | LOXL1, LTBP2 |
| 613086 | GLAUCOMA 3, PRIMARY CONGENITAL, D | ClinVar, OMIM | link to OMIM | 1 | LTBP2 |
| PS277600 | WEILL-MARCHESANI SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | LTBP2, ADAMTS10, FBN1, ADAMTS17 |
| 154700 | MARFAN SYNDROME | ClinVar | link to OMIM | 8 | NOTCH1, LTBP2, FBN2, FBN1, COL5A1, COL5A2, MYH11, COL3A1 |
| 251750 | MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA | ClinVar, OMIM | link to OMIM | 1 | LTBP2 |
| 137760 | GLAUCOMA, PRIMARY OPEN ANGLE | ClinVar | link to OMIM | 3 | LTBP2, OPTN, CYP1B1 |
| 129600 | ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT | ClinVar | link to OMIM | 2 | LTBP2, FBN1 |
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 |
|---|---|---|
| sulfur compound binding | GO:1901681 | 4.32 |
| cation binding | GO:0043169 | 1.4 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| growth factor binding | GO:0019838 | 4.89 |
| ion binding | GO:0043167 | 1.36 |
| glycosaminoglycan binding | GO:0005539 | 4.42 |
| calcium ion binding | GO:0005509 | 3.17 |
| protein binding | GO:0005515 | 0.46 |
| metal ion binding | GO:0046872 | 1.41 |
| heparin binding | GO:0008201 | 4.68 |
| binding | GO:0005488 | 0.18 |