| Disease ID | Disease name | Source of annotation with TLL1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS108800 | ATRIAL SEPTAL DEFECT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 8 | GATA4, TBX20, NKX2-5, CITED2, GATA6, ACTC1, MYH6, TLL1 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Anchoring fibril formation | R-HSA-2214320 | 9.08 |
| Crosslinking of collagen fibrils | R-HSA-2243919 | 9.52 |
| Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
| 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 |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| endopeptidase activity | GO:0004175 | 3.63 |
| metalloendopeptidase activity | GO:0004222 | 5.02 |
| calcium ion binding | GO:0005509 | 3.17 |
| transition metal ion binding | GO:0046914 | 2.48 |
| serine hydrolase activity | GO:0017171 | 4.26 |
| metal ion binding | GO:0046872 | 1.41 |
| cation binding | GO:0043169 | 1.4 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
| zinc ion binding | GO:0008270 | 2.66 |
| serine-type endopeptidase activity | GO:0004252 | 4.4 |
| peptidase activity | GO:0008233 | 3.23 |
| serine-type peptidase activity | GO:0008236 | 4.27 |
| metallopeptidase activity | GO:0008237 | 4.5 |
| binding | GO:0005488 | 0.18 |