| Disease ID | Disease name | Source of annotation with MEF2C | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS156200 | MENTAL RETARDATION, AUTOSOMAL DOMINANT | ClinVar, OMIM | link to OMIM | 44 | EHMT1, KANSL1, AHDC1, SOX11, CDH15, KIRREL3, EEF1A2, KAT6A, ZMYND11, ARID1A, KMT2C, PPP2R5D, DYNC1H1, GRIN1, CTCF, SETD5, AUTS2, PACS1, DPP6, MBD5, DEAF1, KIF1A, SYNGAP1, PURA, POGZ, EPB41L1, PPP2R1A, NR1I3, CTNNB1, ARID1B, MYT1L, CACNG2, COL4A3BP, SMARCB1, MEF2C, SMARCE1, SMARCA4, ZBTB18, ADNP, GATAD2B, SETBP1, GRIN2B, CHAMP1, DYRK1A |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| cGMP-PKG signaling pathway | hsa04022 | 5.32 |
| Transcriptional misregulation in cancer | hsa05202 | 5.21 |
| Oxytocin signaling pathway | hsa04921 | 5.4 |
| MAPK signaling pathway | hsa04010 | 4.63 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| TRIF-mediated TLR3/TLR4 signaling | R-HSA-937061 | 6.47 |
| ERK/MAPK targets | R-HSA-198753 | 8.59 |
| Toll Like Receptor 2 (TLR2) Cascade | R-HSA-181438 | 6.51 |
| Immune System | R-HSA-168256 | 2.37 |
| Transcriptional activation of mitochondrial biogenesis | R-HSA-2151201 | 7.62 |
| Mitochondrial biogenesis | R-HSA-1592230 | 7.34 |
| CDO in myogenesis | R-HSA-375170 | 8.12 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| MAPK targets/ Nuclear events mediated by MAP kinases | R-HSA-450282 | 8.08 |
| Toll Like Receptor 10 (TLR10) Cascade | R-HSA-168142 | 6.73 |
| Signalling by NGF | R-HSA-166520 | 4.23 |
| Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
| Toll Like Receptor 3 (TLR3) Cascade | R-HSA-168164 | 6.47 |
| Toll-Like Receptors Cascades | R-HSA-168898 | 5.91 |
| Nuclear Events (kinase and transcription factor activation) | R-HSA-198725 | 8.4 |
| MyD88-independent TLR3/TLR4 cascade | R-HSA-166166 | 6.47 |
| Myogenesis | R-HSA-525793 | 8.12 |
| Toll Like Receptor TLR6:TLR2 Cascade | R-HSA-168188 | 6.56 |
| Toll Like Receptor 4 (TLR4) Cascade | R-HSA-166016 | 6.11 |
| Toll Like Receptor 7/8 (TLR7/8) Cascade | R-HSA-168181 | 6.68 |
| Innate Immune System | R-HSA-168249 | 3.17 |
| Toll Like Receptor TLR1:TLR2 Cascade | R-HSA-168179 | 6.51 |
| NGF signalling via TRKA from the plasma membrane | R-HSA-187037 | 4.51 |
| Toll Like Receptor 5 (TLR5) Cascade | R-HSA-168176 | 6.73 |
| Circadian Clock | R-HSA-400253 | 7.03 |
| MAP kinase activation in TLR cascade | R-HSA-450294 | 7.28 |
| TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation | R-HSA-975138 | 6.72 |
| MyD88 cascade initiated on plasma membrane | R-HSA-975871 | 6.73 |
| MyD88 dependent cascade initiated on endosome | R-HSA-975155 | 6.68 |
| MyD88:Mal cascade initiated on plasma membrane | R-HSA-166058 | 6.56 |
| Activated TLR4 signalling | R-HSA-166054 | 6.27 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Toll Like Receptor 9 (TLR9) Cascade | R-HSA-168138 | 6.62 |
| GO term | GO ID | GO IC |
|---|---|---|
| enzyme binding | GO:0019899 | 2.27 |
| activating transcription factor binding | GO:0033613 | 5.68 |
| RNA polymerase II distal enhancer sequence-specific DNA binding | GO:0000980 | 5.58 |
| RNA polymerase II regulatory region DNA binding | GO:0001012 | 3.36 |
| core promoter proximal region DNA binding | GO:0001159 | 3.82 |
| enhancer sequence-specific DNA binding | GO:0001158 | 5.36 |
| transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding | GO:0001077 | 4.31 |
| 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 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| sequence-specific DNA binding | GO:0043565 | 2.79 |
| sequence-specific double-stranded DNA binding | GO:1990837 | 3.2 |
| core promoter proximal region sequence-specific DNA binding | GO:0000987 | 3.83 |
| double-stranded DNA binding | GO:0003690 | 3.09 |
| histone deacetylase binding | GO:0042826 | 5.08 |
| 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 |
| RNA polymerase II regulatory region sequence-specific DNA binding | GO:0000977 | 3.37 |
| transcription factor activity, RNA polymerase II core promoter sequence-specific | GO:0000983 | 7.1 |
| transcription factor binding | GO:0008134 | 3.46 |
| regulatory region nucleic acid binding | GO:0001067 | 3.03 |
| enhancer binding | GO:0035326 | 5.21 |
| core promoter binding | GO:0001047 | 4.71 |
| core promoter sequence-specific DNA binding | GO:0001046 | 5.12 |
| transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding | GO:0001205 | 6.48 |
| HMG box domain binding | GO:0071837 | 6.85 |
| RNA polymerase II core promoter proximal region sequence-specific DNA binding | GO:0000978 | 3.88 |
| transcription regulatory region DNA binding | GO:0044212 | 3.03 |
| chromatin binding | GO:0003682 | 3.64 |
| miRNA binding | GO:0035198 | 6.97 |
| 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 |
| transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding | GO:0003705 | 5.23 |
| transcription regulatory region sequence-specific DNA binding | GO:0000976 | 3.24 |
| RNA binding | GO:0003723 | 2.36 |
| protein binding | GO:0005515 | 0.46 |
| regulatory region DNA binding | GO:0000975 | 3.03 |
| AT DNA binding | GO:0003680 | 7.66 |
| protein dimerization activity | GO:0046983 | 2.72 |
| protein heterodimerization activity | GO:0046982 | 3.64 |
| transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding | GO:0001228 | 3.98 |
| protein domain specific binding | GO:0019904 | 3.32 |