Charge syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| CHARGE SYNDROME | CHD7 | Causal | CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet | — | ||
| EP300 | Causal | — | Disgenet | |||
| KMT2D | Causal | — | Disgenet | |||
| PUF60 | Causal | — | Disgenet | |||
| RERE | Causal | — | Disgenet | — | ||
| SEMA3E | Causal | Disgenet, GenCC, Orphanet | ||||
| TNFRSF1A | Causal | — | Disgenet | |||
| KDM6A | Unknown | — | Disgenet | |||
| WDR11 | Unknown | — | Disgenet | — | ||
| FAMILIAL CHARGE SYNDROMES | CHD7 | Unknown | Disgenet, ClinGen | — |