Rubinstein-taybi syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| RUBINSTEIN TAYBI LIKE SYNDROME | ASXL1 | Causal | — | Disgenet | |
| KMT2A | Causal | — | Disgenet | ||
| KMT2D | Causal | — | Disgenet | ||
| RUBINSTEIN-TAYBI SYNDROME | CREBBP | Causal | CTD ClinGen Disgenet GWAS catalog | ||
| EP300 | Causal | CTD ClinVar Disgenet | |||
| DLX5 | Unknown | — | Disgenet | ||
| SMOC1 | Unknown | — | Disgenet | ||
| RUBINSTEIN-TAYBI SYNDROME 1 | CREBBP | Unknown | — | Disgenet HPO | |
| EP300 | Unknown | — | Disgenet HPO | ||
| RUBINSTEIN-TAYBI SYNDROME 2 | EP300 | Unknown | — | Disgenet HPO | |
| PANK2 | Unknown | — | Disgenet | ||
| RUBINSTEIN-TAYBI SYNDROME DUE TO 16P13.3 MICRODELETION | CREBBP | Unknown | Orphanet | ||
| RUBINSTEIN-TAYBI SYNDROME DUE TO CREBBP MUTATIONS | CREBBP | Causal | ClinVar Disgenet GWAS catalog Orphanet | ||
| EP300 | Causal | — | ClinVar | ||
| RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY | EP300 | Causal | ClinGen ClinVar Disgenet Orphanet |