Schwartz-jampel syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| SCHWARTZ-JAMPEL SYNDROME | HSPG2 | Causal | Disgenet, GenCC, Orphanet | |||
| LDLRAD2 | Unknown | — | Disgenet | — | ||
| SCHWARTZ-JAMPEL SYNDROME TYPE 1 | HSPG2 | Causal | ClinGen, ClinVar, HPO | |||
| SCHWARTZ-JAMPEL SYNDROME, TYPE 1 | GNA11 | Unknown | — | Disgenet | ||
| HSPG2 | Unknown | Disgenet, HPO | ||||
| LDLRAD2 | Unknown | — | Disgenet | — |