| GENE NAME | EHMT1 |
| CHROMOSOME | 9 |
| ENSEMBL ID | ENSG00000181090 |
| ENTREZ ID | 79813 |
| UNIPROT ACCESSION NUMBER | Q9H9B1 |
| GO MOLECULAR FUNCTION | protein binding; methyltransferase activity; metal ion binding; transferase activity |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04211; R-HSA-2262752; R-HSA-6804760; R-HSA-2559582; R-HSA-4839726; R-HSA-8953897; R-HSA-2559583; hsa00310; R-HSA-3247509; R-HSA-73857; R-HSA-5633007; R-HSA-8853884; R-HSA-212436; R-HSA-3214841; R-HSA-3700989; R-HSA-8953750; hsa01100; R-HSA-74160 |
| 2 combinations linked to EHMT1 | OLI432; OLI433 |
| 2 variants linked to EHMT1 | EHMT1:c.989A>T, p.Lys330Met; EHMT1:c.1513G>A, p.Gly505Ser |
| 1 disease linked to EHMT1 | Rare pervasive developmental disorder |