Spondyloepiphyseal dysplasia congenita
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Spondyloepiphyseal dysplasia congenita | 94068 | COL2A1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Spondyloepiphyseal dysplasia, congenita | C2745959 | COL2A1 | Causal Pathogenic evidence from ClinVar | 2339128, 2543071, 7757086, 8019561, 8325895, 8423604, 10678662, 11746045, 18541977, 20513134, 21922596, 26030151, 26380986 | ClinVar |
| CHST3 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| TRAPPC2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |