Otofaciocervical syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| OTOFACIOCERVICAL SYNDROME | EYA1 | Unknown | CTD, Disgenet, Orphanet | |||
| PAX1 | Unknown | CTD, Disgenet, Orphanet | — | |||
| OTOFACIOCERVICAL SYNDROME 1 | EYA1 | Causal | ClinVar, Disgenet, HPO | |||
| PAX1 | Unknown | — | Disgenet | — | ||
| OTOFACIOCERVICAL SYNDROME 2 | PAX1 | Causal | ClinGen, ClinVar, Disgenet, GWAS catalog | — | ||
| OTOFACIOCERVICAL SYNDROME 2, WITH T-CELL DEFICIENCY | PAX1 | Unknown | Disgenet, HPO | — |