Coffin-siris syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| COFFIN-LOWRY SYNDROME | RPS6KA3 | Causal | CTD, ClinGen, ClinVar, Disgenet, HPO, Orphanet | |||
| COFFIN-SIRIS SYNDROME | ARID1A | Causal | CTD, ClinGen, Disgenet, Orphanet | |||
| ARID1B | Causal | CTD, ClinGen, Disgenet, GWAS catalog, Orphanet | ||||
| SMARCB1 | Causal | CTD, ClinGen, Disgenet, GWAS catalog, Orphanet | ||||
| COFFIN-SIRIS SYNDROME 1 | ARID1A | Causal | — | Disgenet | ||
| ARID1B | Causal | ClinVar, Disgenet, GWAS catalog, HPO, ClinGen | ||||
| DPF2 | Causal | — | Disgenet | |||
| COFFIN-SIRIS SYNDROME 10 | SOX4 | Causal | — | ClinVar, Disgenet, GenCC | ||
| COFFIN-SIRIS SYNDROME 11 | SMARCD1 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| COFFIN-SIRIS SYNDROME 12 | BICRA | Causal | ClinVar, Disgenet, GenCC, HPO, ClinGen | |||
| COFFIN-SIRIS SYNDROME 5 | SMARCE1 | Causal | ClinVar, Disgenet, GWAS catalog, HPO, ClinGen | |||
| COFFIN-SIRIS SYNDROME 6 | ARID2 | Causal | CTD, ClinVar, Disgenet, HPO, ClinGen | |||
| COFFIN-SIRIS SYNDROME 7 | DPF2 | Causal | ClinVar, Disgenet, GWAS catalog, HPO, ClinGen | |||
| COFFIN-SIRIS SYNDROME 8 | SMARCC2 | Causal | — | ClinVar, Disgenet, GenCC, HPO, ClinGen |