| Gene | Associated with EXFOLIATION SYNDROME in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
|---|---|---|---|---|---|
| LOXL1 | OMIM | HGNC link | 15q24.1 | 1 | 177650 |
| LTBP2 | ClinVar | HGNC link | 14q24.3 | 7 | 154700, 251750, 129600, PS277600, 177650, 613086, 137760 |
Download the disease annotation in CSV format
| REACTOME term | REACTOME term ID | IC | Number of genes with the same term | Genes |
|---|---|---|---|---|
| Elastic fibre formation | R-HSA-1566948 | 7.49 | 2 | LOXL1, LTBP2 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 | 2 | LOXL1, LTBP2 |
| Term | New enriched term | IC | P value | Genes |
|---|---|---|---|---|
| Elastic fibre formation (R-HSA-1566948) | - | 7.49 | 0.0 | LOXL1, LTBP2 |
| Extracellular matrix organization (R-HSA-1474244) | - | 4.91 | 0.023 | LOXL1, LTBP2 |
| GO | IC | Number of genes with the same GO | Genes |
|---|---|---|---|
| cation binding (GO:0043169) | 1.4 | 2 | LOXL1, LTBP2 |
| metal ion binding (GO:0046872) | 1.41 | 2 | LOXL1, LTBP2 |
| binding (GO:0005488) | 0.18 | 2 | LOXL1, LTBP2 |
| ion binding (GO:0043167) | 1.36 | 2 | LOXL1, LTBP2 |
| GO | IC | Number of genes with the same GO | Genes |
|---|---|---|---|
| cellular process (GO:0009987) | 0.26 | 2 | LOXL1, LTBP2 |
| cellular component organization (GO:0016043) | 1.24 | 2 | LOXL1, LTBP2 |
| extracellular matrix organization (GO:0030198) | 4.01 | 2 | LOXL1, LTBP2 |
| single-organism cellular process (GO:0044763) | 0.65 | 2 | LOXL1, LTBP2 |
| single-organism process (GO:0044699) | 0.48 | 2 | LOXL1, LTBP2 |
| extracellular structure organization (GO:0043062) | 4.0 | 2 | LOXL1, LTBP2 |
| cellular component organization or biogenesis (GO:0071840) | 1.22 | 2 | LOXL1, LTBP2 |
| GO | IC | Number of genes with the same GO | Genes |
|---|---|---|---|
| extracellular space (GO:0005615) | 2.63 | 2 | LOXL1, LTBP2 |
| extracellular region part (GO:0044421) | 1.57 | 2 | LOXL1, LTBP2 |
| proteinaceous extracellular matrix (GO:0005578) | 4.01 | 2 | LOXL1, LTBP2 |
| cell part (GO:0044464) | 0.11 | 2 | LOXL1, LTBP2 |
| membrane-bounded vesicle (GO:0031988) | 1.71 | 2 | LOXL1, LTBP2 |
| extracellular region (GO:0005576) | 2.18 | 2 | LOXL1, LTBP2 |
| extracellular matrix (GO:0031012) | 3.81 | 2 | LOXL1, LTBP2 |
| membrane-bounded organelle (GO:0043227) | 0.47 | 2 | LOXL1, LTBP2 |
| organelle (GO:0043226) | 0.4 | 2 | LOXL1, LTBP2 |
| vesicle (GO:0031982) | 1.64 | 2 | LOXL1, LTBP2 |
| Term | New enriched term | IC | P value | Genes |
|---|---|---|---|---|
| extracellular space (GO:0005615) | - | 2.63 | 0.047 | LOXL1, LTBP2 |
| proteinaceous extracellular matrix (GO:0005578) | - | 4.01 | 0.007 | LOXL1, LTBP2 |
| extracellular matrix (GO:0031012) | - | 3.81 | 0.003 | LOXL1, LTBP2 |