Bruck syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Bruck syndrome | 2771, C0432253 | FKBP10 | Causal Pathogenic evidence from ClinVar | 22085994, 22689593, 22949511 | ClinVar |
| PLOD2 | Causal Pathogenic evidence from ClinVar | 15523624, 22689593 | ClinVar | ||
| Bruck syndrome 1 | C1850168 | FKBP10 | Causal Pathogenic evidence from ClinVar | 20696291, 20839288, 22085994, 22689593, 22949511 | ClinVar |
| PLOD2 | Causal Pathogenic evidence from ClinVar | 15523624, 22689593 | ClinVar | ||
| Bruck syndrome 2 | C1836602 | FKBP10 | Causal Pathogenic evidence from ClinVar | 22085994, 22689593, 22949511 | ClinVar |
| PLOD2 | Causal Pathogenic evidence from ClinVar | 12881513, 15523624, 22689593 | ClinVar |