Knobloch syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| KNOBLOCH SYNDROME | COL18A1 | Causal | CTD, Disgenet, GenCC, Orphanet | |||
| PAK2 | Causal | Disgenet, Orphanet | ||||
| KNOBLOCH SYNDROME 1 | COL18A1 | Causal | ClinGen, ClinVar, GWAS catalog, HPO | |||
| KNOBLOCH SYNDROME 2 | PAK2 | Causal | — | ClinVar, Disgenet, GenCC, HPO |