| Disease ID | Disease name | Source of annotation with KANSL1 | 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
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| HATs acetylate histones | R-HSA-3214847 | 6.23 |
| Chromatin organization | R-HSA-4839726 | 5.19 |
| Chromatin modifying enzymes | R-HSA-3247509 | 5.19 |
| GO term | GO ID | GO IC |
|---|---|---|
| N-acyltransferase activity | GO:0016410 | 5.08 |
| N-acetyltransferase activity | GO:0008080 | 5.27 |
| histone acetyltransferase activity (H4-K5 specific) | GO:0043995 | 7.54 |
| histone acetyltransferase activity | GO:0004402 | 5.7 |
| histone acetyltransferase activity (H4-K16 specific) | GO:0046972 | 7.54 |
| peptide-lysine-N-acetyltransferase activity | GO:0061733 | 5.68 |
| histone acetyltransferase activity (H4-K8 specific) | GO:0043996 | 7.54 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| peptide N-acetyltransferase activity | GO:0034212 | 5.55 |
| acetyltransferase activity | GO:0016407 | 5.1 |
| H4 histone acetyltransferase activity | GO:0010485 | 6.97 |
| transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |