| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Kleefstra Syndrome | EHMT1 | disease | C0795833 | CausalMutation | 1 | orphanet , disgenet |
| Kleefstra Syndrome | EHMT1 | disease | C0795833 | PosttranslationalModification | 1 | orphanet , disgenet |
| Kleefstra Syndrome | EHMT1 | disease | C0795833 | GeneticVariation | 1 | orphanet , disgenet |
| Kleefstra Syndrome | EHMT1 | disease | C0795833 | Biomarker | 1 | orphanet , disgenet |
| Kleefstra Syndrome | RCBTB1 | disease | C0795833 | GeneticVariation | 0.02 | disgenet |
| Kleefstra Syndrome | RCBTB1 | disease | C0795833 | Biomarker | 0.02 | disgenet |
| Kleefstra Syndrome | GOLGA6A | disease | C0795833 | GeneticVariation | 0.02 | disgenet |
| Kleefstra Syndrome | GOLGA6A | disease | C0795833 | Biomarker | 0.02 | disgenet |
| Kleefstra Syndrome | KMT2B | disease | C0795833 | GeneticVariation | 0.01 | disgenet |
| Kleefstra Syndrome | GATAD2B | disease | C0795833 | Biomarker | 0.01 | disgenet |
| Kleefstra Syndrome | NR1I3 | disease | C0795833 | Biomarker | 0.01 | disgenet |
| Kleefstra Syndrome | MED13L | disease | C0795833 | GeneticVariation | 0.01 | disgenet |
| Kleefstra Syndrome | KMT2C | disease | C0795833 | Biomarker | 0.01 | orphanet , disgenet |
| Kleefstra Syndrome | EHMT2 | disease | C0795833 | PosttranslationalModification | 0.01 | disgenet |
| click here to return to the previous page | ||||||