| Disease ID | Disease name | Source of annotation with NIPBL | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS122470 | CORNELIA DE LANGE SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 7 | RAD21, TAF6, HDAC8, KMT2A, SMC1A, SMC3, NIPBL |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Cell Cycle | R-HSA-1640170 | 3.89 |
| M Phase | R-HSA-68886 | 4.87 |
| Cell Cycle, Mitotic | R-HSA-69278 | 4.16 |
| Cohesin Loading onto Chromatin | R-HSA-2470946 | 9.66 |
| Mitotic Telophase/Cytokinesis | R-HSA-68884 | 9.18 |
| GO term | GO ID | GO IC |
|---|---|---|
| protein C-terminus binding | GO:0008022 | 4.5 |
| protein N-terminus binding | GO:0047485 | 5.11 |
| mediator complex binding | GO:0036033 | 8.35 |
| enzyme binding | GO:0019899 | 2.27 |
| chromo shadow domain binding | GO:0070087 | 7.95 |
| 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 |
| chromatin binding | GO:0003682 | 3.64 |
| histone deacetylase binding | GO:0042826 | 5.08 |
| protein domain specific binding | GO:0019904 | 3.32 |