| Disease ID | Disease name | Source of annotation with NOTCH2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 102500 | HAJDU-CHENEY SYNDROME | ClinVar, OMIM | link to OMIM | 1 | NOTCH2 |
| PS118450 | ALAGILLE SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | NOTCH2, JAG1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Notch signaling pathway | hsa04330 | 7.12 |
| Thyroid hormone signaling pathway | hsa04919 | 5.82 |
| Dorso-ventral axis formation | hsa04320 | 8.01 |
| MicroRNAs in cancer | hsa05206 | 5.38 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Signaling by NOTCH2 | R-HSA-1980145 | 7.98 |
| Generic Transcription Pathway | R-HSA-212436 | 3.86 |
| Gene Expression | R-HSA-74160 | 2.72 |
| Pre-NOTCH Transcription and Translation | R-HSA-1912408 | 8.12 |
| Notch-HLH transcription pathway | R-HSA-350054 | 9.28 |
| Signaling by NOTCH | R-HSA-157118 | 6.2 |
| Pre-NOTCH Processing in Golgi | R-HSA-1912420 | 8.81 |
| NOTCH2 intracellular domain regulates transcription | R-HSA-2197563 | 9.4 |
| Pre-NOTCH Processing in the Endoplasmic Reticulum | R-HSA-1912399 | 10.4 |
| Pre-NOTCH Expression and Processing | R-HSA-1912422 | 7.49 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| NOTCH2 Activation and Transmission of Signal to the Nucleus | R-HSA-2979096 | 8.59 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| signaling receptor activity | GO:0038023 | 2.49 |
| calcium ion binding | GO:0005509 | 3.17 |
| protein binding | GO:0005515 | 0.46 |
| ion binding | GO:0043167 | 1.36 |
| signal transducer activity | GO:0004871 | 2.28 |
| molecular transducer activity | GO:0060089 | 2.32 |
| transcription factor activity, RNA polymerase II transcription factor binding | GO:0001076 | 4.84 |
| binding | GO:0005488 | 0.18 |
| transcription factor activity, transcription factor binding | GO:0000989 | 3.36 |
| transcription factor activity, protein binding | GO:0000988 | 3.35 |
| transcription factor activity, ligand-activated RNA polymerase II transcription factor binding | GO:0038049 | 9.05 |
| metal ion binding | GO:0046872 | 1.41 |
| receptor activity | GO:0004872 | 2.32 |