| Disease ID | Disease name | Source of annotation with NOTCH1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 130020 | EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE | ClinVar | link to OMIM | 3 | TNXB, NOTCH1, COL3A1 |
| 234750 | HEART, MALFORMATION OF | ClinVar | link to OMIM | 3 | MYH6, TBX5, NOTCH1 |
| PS109730 | AORTIC VALVE DISEASE | ClinVar, OMIM | link to OMIM | 4 | NOTCH1, GATA5, SMAD6, COL5A1 |
| 154700 | MARFAN SYNDROME | ClinVar | link to OMIM | 8 | NOTCH1, LTBP2, FBN2, FBN1, COL5A1, COL5A2, MYH11, COL3A1 |
| 140500 | HEART, MALFORMATION OF | ClinVar | link to OMIM | 3 | MYH6, TBX5, NOTCH1 |
| PS100300 | ADAMS-OLIVER SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 6 | NOTCH1, DLL4, EOGT, DOCK6, RBPJ, ARHGAP31 |
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 |
| Prion diseases | hsa05020 | 7.48 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells | R-HSA-210744 | 10.18 |
| Signaling by NOTCH | R-HSA-157118 | 6.2 |
| Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant | R-HSA-2660826 | 10.18 |
| Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant | R-HSA-2660825 | 10.18 |
| Pre-NOTCH Processing in the Endoplasmic Reticulum | R-HSA-1912399 | 10.4 |
| Notch-HLH transcription pathway | R-HSA-350054 | 9.28 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| Generic Transcription Pathway | R-HSA-212436 | 3.86 |
| Gene Expression | R-HSA-74160 | 2.72 |
| Disease | R-HSA-1643685 | 3.33 |
| Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants | R-HSA-2894862 | 7.15 |
| Constitutive Signaling by NOTCH1 HD Domain Mutants | R-HSA-2691232 | 9.08 |
| Signaling by NOTCH1 HD Domain Mutants in Cancer | R-HSA-2691230 | 9.08 |
| Diseases of signal transduction | R-HSA-5663202 | 4.89 |
| NOTCH1 Intracellular Domain Regulates Transcription | R-HSA-2122947 | 7.43 |
| Pre-NOTCH Processing in Golgi | R-HSA-1912420 | 8.81 |
| Pre-NOTCH Expression and Processing | R-HSA-1912422 | 7.49 |
| Activated NOTCH1 Transmits Signal to the Nucleus | R-HSA-2122948 | 8.08 |
| Signaling by NOTCH1 | R-HSA-1980143 | 6.81 |
| Regulation of beta-cell development | R-HSA-186712 | 7.98 |
| Signaling by NOTCH1 in Cancer | R-HSA-2644603 | 7.15 |
| Signaling by NOTCH1 PEST Domain Mutants in Cancer | R-HSA-2644602 | 7.15 |
| FBXW7 Mutants and NOTCH1 in Cancer | R-HSA-2644605 | 10.66 |
| Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling | R-HSA-2644607 | 10.66 |
| Constitutive Signaling by NOTCH1 PEST Domain Mutants | R-HSA-2644606 | 7.15 |
| Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer | R-HSA-2894858 | 7.15 |
| Pre-NOTCH Transcription and Translation | R-HSA-1912408 | 8.12 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| enzyme binding | GO:0019899 | 2.27 |
| molecular transducer activity | GO:0060089 | 2.32 |
| transcription factor activity, RNA polymerase II transcription factor binding | GO:0001076 | 4.84 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| DNA binding | GO:0003677 | 1.92 |
| enzyme inhibitor activity | GO:0004857 | 3.78 |
| molecular function regulator | GO:0098772 | 2.51 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| sequence-specific DNA binding | GO:0043565 | 2.79 |
| structure-specific DNA binding | GO:0043566 | 4.98 |
| transcriptional activator activity, RNA polymerase II transcription factor binding | GO:0001190 | 5.77 |
| ion binding | GO:0043167 | 1.36 |
| calcium ion binding | GO:0005509 | 3.17 |
| transcription factor activity, transcription factor binding | GO:0000989 | 3.36 |
| transcription factor activity, protein binding | GO:0000988 | 3.35 |
| metal ion binding | GO:0046872 | 1.41 |
| Notch binding | GO:0005112 | 6.85 |
| cation binding | GO:0043169 | 1.4 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| regulatory region DNA binding | GO:0000975 | 3.03 |
| regulatory region nucleic acid binding | GO:0001067 | 3.03 |
| transcriptional repressor activity, RNA polymerase II transcription factor binding | GO:0001191 | 5.28 |
| core promoter binding | GO:0001047 | 4.71 |
| protein dimerization activity | GO:0046983 | 2.72 |
| transcription regulatory region DNA binding | GO:0044212 | 3.03 |
| chromatin binding | GO:0003682 | 3.64 |
| chromatin DNA binding | GO:0031490 | 5.37 |
| transcription factor activity, sequence-specific DNA binding | GO:0003700 | 2.65 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| nucleic acid binding transcription factor activity | GO:0001071 | 2.65 |
| protein binding | GO:0005515 | 0.46 |
| transcriptional repressor activity, RNA polymerase II activating transcription factor binding | GO:0098811 | 5.77 |
| receptor binding | GO:0005102 | 2.43 |
| protein heterodimerization activity | GO:0046982 | 3.64 |
| receptor activity | GO:0004872 | 2.32 |