| Disease ID | Disease name | Source of annotation with CREBBP | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS142623 | HIRSCHSPRUNG DISEASE | ClinVar | link to OMIM | 21 | TSC2, KDR, GDNF, PTCH1, GFRA1, NTF3, IRAK3, EDN3, ZHX2, THBS4, AHNAK, POLR2F, FBN1, RET, CNTN5, DPYD, EDNRB, CREBBP, SEMA3D, FAT3, PLAU |
| PS180849 | RUBINSTEIN-TAYBI SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | EP300, CREBBP |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Renal cell carcinoma | hsa05211 | 6.6 |
| cAMP signaling pathway | hsa04024 | 5.05 |
| Prostate cancer | hsa05215 | 6.11 |
| Long-term potentiation | hsa04720 | 6.64 |
| FoxO signaling pathway | hsa04068 | 5.63 |
| HIF-1 signaling pathway | hsa04066 | 5.9 |
| Thyroid hormone signaling pathway | hsa04919 | 5.82 |
| Notch signaling pathway | hsa04330 | 7.12 |
| Herpes simplex infection | hsa05168 | 5.08 |
| Epstein-Barr virus infection | hsa05169 | 4.97 |
| Influenza A | hsa05164 | 5.21 |
| HTLV-I infection | hsa05166 | 4.59 |
| Wnt signaling pathway | hsa04310 | 5.49 |
| Hepatitis B | hsa05161 | 5.52 |
| TGF-beta signaling pathway | hsa04350 | 6.41 |
| Cell cycle | hsa04110 | 5.68 |
| MicroRNAs in cancer | hsa05206 | 5.38 |
| Pathways in cancer | hsa05200 | 3.98 |
| Viral carcinogenesis | hsa05203 | 5.08 |
| Adherens junction | hsa04520 | 6.26 |
| Melanogenesis | hsa04916 | 5.97 |
| Jak-STAT signaling pathway | hsa04630 | 5.44 |
| Tuberculosis | hsa05152 | 5.17 |
| Huntington's disease | hsa05016 | 5.17 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Signaling by NOTCH1 in Cancer | R-HSA-2644603 | 7.15 |
| Transcriptional regulation of white adipocyte differentiation | R-HSA-381340 | 6.7 |
| Immune System | R-HSA-168256 | 2.37 |
| Signaling by NOTCH | R-HSA-157118 | 6.2 |
| Mitochondrial biogenesis | R-HSA-1592230 | 7.34 |
| RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways | R-HSA-168928 | 6.7 |
| Fatty acid, triacylglycerol, and ketone body metabolism | R-HSA-535734 | 5.44 |
| Factors involved in megakaryocyte development and platelet production | R-HSA-983231 | 5.88 |
| Notch-HLH transcription pathway | R-HSA-350054 | 9.28 |
| Disease | R-HSA-1643685 | 3.33 |
| PPARA activates gene expression | R-HSA-1989781 | 6.18 |
| Cellular response to heat stress | R-HSA-3371556 | 6.59 |
| Generic Transcription Pathway | R-HSA-212436 | 3.86 |
| Gene Expression | R-HSA-74160 | 2.72 |
| Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | R-HSA-400206 | 6.14 |
| RORA activates gene expression | R-HSA-1368082 | 8.23 |
| Cellular responses to stress | R-HSA-2262752 | 4.56 |
| Activation of gene expression by SREBF (SREBP) | R-HSA-2426168 | 7.62 |
| HATs acetylate histones | R-HSA-3214847 | 6.23 |
| Attenuation phase | R-HSA-3371568 | 9.28 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Hemostasis | R-HSA-109582 | 3.98 |
| Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants | R-HSA-2894862 | 7.15 |
| C-type lectin receptors (CLRs) | R-HSA-5621481 | 6.06 |
| TRAF6 mediated IRF7 activation | R-HSA-933541 | 7.98 |
| Regulation of gene expression by Hypoxia-inducible Factor | R-HSA-1234158 | 9.81 |
| Diseases of signal transduction | R-HSA-5663202 | 4.89 |
| Signaling by NOTCH1 | R-HSA-1980143 | 6.81 |
| Innate Immune System | R-HSA-168249 | 3.17 |
| Regulation of Hypoxia-inducible Factor (HIF) by oxygen | R-HSA-1234174 | 8.4 |
| TCF dependent signaling in response to WNT | R-HSA-201681 | 5.36 |
| LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production | R-HSA-3134973 | 10.66 |
| NOTCH1 Intracellular Domain Regulates Transcription | R-HSA-2122947 | 7.43 |
| Cytosolic sensors of pathogen-associated DNA | R-HSA-1834949 | 6.94 |
| Pre-NOTCH Expression and Processing | R-HSA-1912422 | 7.49 |
| Transcriptional activation of mitochondrial biogenesis | R-HSA-2151201 | 7.62 |
| BMAL1:CLOCK,NPAS2 activates circadian gene expression | R-HSA-1368108 | 7.59 |
| Chromatin modifying enzymes | R-HSA-3247509 | 5.19 |
| Circadian Clock | R-HSA-400253 | 7.03 |
| Cellular response to hypoxia | R-HSA-2262749 | 8.4 |
| Signaling by Wnt | R-HSA-195721 | 4.79 |
| formation of the beta-catenin:TCF transactivating complex | R-HSA-201722 | 7.18 |
| Regulation of cholesterol biosynthesis by SREBP (SREBF) | R-HSA-1655829 | 7.23 |
| Pre-NOTCH Transcription and Translation | R-HSA-1912408 | 8.12 |
| Signaling by NOTCH1 PEST Domain Mutants in Cancer | R-HSA-2644602 | 7.15 |
| Constitutive Signaling by NOTCH1 PEST Domain Mutants | R-HSA-2644606 | 7.15 |
| CD209 (DC-SIGN) signaling | R-HSA-5621575 | 8.59 |
| TRAF3-dependent IRF activation pathway | R-HSA-918233 | 9.18 |
| Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer | R-HSA-2894858 | 7.15 |
| Chromatin organization | R-HSA-4839726 | 5.19 |
| YAP1- and WWTR1 (TAZ)-stimulated gene expression | R-HSA-2032785 | 8.12 |
| HSF1-dependent transactivation | R-HSA-3371571 | 8.59 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| nucleic acid binding | GO:0003676 | 1.44 |
| activating transcription factor binding | GO:0033613 | 5.68 |
| transcription coactivator activity | GO:0003713 | 4.04 |
| cation binding | GO:0043169 | 1.4 |
| core promoter proximal region DNA binding | GO:0001159 | 3.82 |
| 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 |
| signal transducer activity | GO:0004871 | 2.28 |
| DNA binding | GO:0003677 | 1.92 |
| bHLH transcription factor binding | GO:0043425 | 6.41 |
| transcriptional repressor activity, RNA polymerase II activating transcription factor binding | GO:0098811 | 5.77 |
| peptide N-acetyltransferase activity | GO:0034212 | 5.55 |
| MRF binding | GO:0043426 | 8.13 |
| transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding | GO:0001078 | 5.08 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| sequence-specific DNA binding | GO:0043565 | 2.79 |
| transcriptional repressor activity, RNA polymerase II transcription factor binding | GO:0001191 | 5.28 |
| transcriptional activator activity, RNA polymerase II transcription factor binding | GO:0001190 | 5.77 |
| N-acetyltransferase activity | GO:0008080 | 5.27 |
| histone acetyltransferase activity | GO:0004402 | 5.7 |
| transcription cofactor activity | GO:0003712 | 3.44 |
| ion binding | GO:0043167 | 1.36 |
| transferase activity | GO:0016740 | 1.95 |
| transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
| transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |
| N-acyltransferase activity | GO:0016410 | 5.08 |
| transcription factor activity, protein binding | GO:0000988 | 3.35 |
| core promoter proximal region sequence-specific DNA binding | GO:0000987 | 3.83 |
| double-stranded DNA binding | GO:0003690 | 3.09 |
| metal ion binding | GO:0046872 | 1.41 |
| transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding | GO:0000982 | 3.94 |
| RNA polymerase II transcription factor activity, sequence-specific DNA binding | GO:0000981 | 3.29 |
| transcription factor activity, transcription factor binding | GO:0000989 | 3.36 |
| transcription regulatory region DNA binding | GO:0044212 | 3.03 |
| transcription factor binding | GO:0008134 | 3.46 |
| regulatory region nucleic acid binding | GO:0001067 | 3.03 |
| RNA polymerase II transcription cofactor activity | GO:0001104 | 5.22 |
| RNA polymerase II transcription coactivator activity | GO:0001105 | 6.15 |
| sequence-specific double-stranded DNA binding | GO:1990837 | 3.2 |
| peptide-lysine-N-acetyltransferase activity | GO:0061733 | 5.68 |
| RNA polymerase II activating transcription factor binding | GO:0001102 | 6.13 |
| RNA polymerase II transcription factor binding | GO:0001085 | 5.08 |
| SMAD binding | GO:0046332 | 5.45 |
| transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding | GO:0001227 | 4.61 |
| transition metal ion binding | GO:0046914 | 2.48 |
| catalytic activity | GO:0003824 | 1.05 |
| 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 |
| acetyltransferase activity | GO:0016407 | 5.1 |
| transcription regulatory region sequence-specific DNA binding | GO:0000976 | 3.24 |
| protein binding | GO:0005515 | 0.46 |
| regulatory region DNA binding | GO:0000975 | 3.03 |
| peroxisome proliferator activated receptor binding | GO:0042975 | 7.03 |
| receptor binding | GO:0005102 | 2.43 |
| chromatin binding | GO:0003682 | 3.64 |
| p53 binding | GO:0002039 | 5.53 |
| damaged DNA binding | GO:0003684 | 5.58 |
| zinc ion binding | GO:0008270 | 2.66 |