| Disease ID | Disease name | Source of annotation with KMT2C | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS156200 | MENTAL RETARDATION, AUTOSOMAL DOMINANT | ClinVar | 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 |
|---|---|---|
| Lysine degradation | hsa00310 | 7.01 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Chromatin organization | R-HSA-4839726 | 5.19 |
| PKMTs methylate histone lysines | R-HSA-3214841 | 7.66 |
| Chromatin modifying enzymes | R-HSA-3247509 | 5.19 |
| GO term | GO ID | GO IC |
|---|---|---|
| histone-lysine N-methyltransferase activity | GO:0018024 | 5.93 |
| histone methyltransferase activity | GO:0042054 | 5.68 |
| lysine N-methyltransferase activity | GO:0016278 | 5.7 |
| protein-lysine N-methyltransferase activity | GO:0016279 | 5.71 |
| protein methyltransferase activity | GO:0008276 | 5.33 |
| zinc ion binding | GO:0008270 | 2.66 |
| nucleic acid binding | GO:0003676 | 1.44 |
| DNA binding | GO:0003677 | 1.92 |
| methyltransferase activity | GO:0008168 | 4.35 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| cation binding | GO:0043169 | 1.4 |
| transition metal ion binding | GO:0046914 | 2.48 |
| ion binding | GO:0043167 | 1.36 |
| transferase activity | GO:0016740 | 1.95 |
| transferase activity, transferring one-carbon groups | GO:0016741 | 4.3 |
| metal ion binding | GO:0046872 | 1.41 |
| histone methyltransferase activity (H3-K4 specific) | GO:0042800 | 6.85 |
| S-adenosylmethionine-dependent methyltransferase activity | GO:0008757 | 4.81 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| catalytic activity | GO:0003824 | 1.05 |
| N-methyltransferase activity | GO:0008170 | 5.26 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| RNA binding | GO:0003723 | 2.36 |
| protein binding | GO:0005515 | 0.46 |
| binding | GO:0005488 | 0.18 |