Rubinstein-taybi syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| 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, ClinGen | |||
| EP300 | Causal | — | ClinVar | |||
| RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY | EP300 | Causal | ClinGen, ClinVar, Disgenet, Orphanet |