Knobloch syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| KNOBLOCH SYNDROME | COL18A1 | Causal | CTD Disgenet GenCC Orphanet | ||
| PAK2 | Causal | Disgenet Orphanet | |||
| ADAMTS18 | Unknown | — | Disgenet | ||
| SLC19A1 | Unknown | — | Disgenet | ||
| KNOBLOCH SYNDROME 1 | COL18A1 | Causal | ClinGen ClinVar GWAS catalog HPO | ||
| KNOBLOCH SYNDROME 2 | PAK2 | Causal | — | ClinVar Disgenet GenCC HPO | |
| KNOBLOCH SYNDROME TYPE II | PAK2 | Unknown | — | Disgenet | |
| KNOBLOCH SYNDROME, TYPE I | COL18A1 | Unknown | — | Disgenet | |
| SLC19A1 | Unknown | — | Disgenet |