Kabuki syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| KABUKI MAKE-UP SYNDROME | BRCA2 | Unknown | — | Disgenet | |
| DNMT3B | Unknown | — | Disgenet | ||
| HCFC1 | Unknown | — | Disgenet | ||
| KDM6A | Unknown | — | Disgenet | ||
| KIDINS220 | Unknown | — | Disgenet | ||
| KMT2A | Unknown | — | Disgenet | ||
| KMT2B | Unknown | — | Disgenet | ||
| KMT2D | Unknown | — | Disgenet | ||
| ZBTB24 | Unknown | — | Disgenet | ||
| KABUKI SYNDROME | KMT2D | Causal | CTD GWAS catalog Orphanet | ||
| KDM6A | Unknown | CTD GWAS catalog Orphanet | |||
| KABUKI SYNDROME 1 | KDM6A | Causal | — | ClinVar HPO | |
| KMT2D | Causal | — | ClinGen ClinVar GenCC HPO | ||
| KABUKI SYNDROME 2 | KDM6A | Causal | ClinGen ClinVar Disgenet HPO |